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
API5	8539	broad.mit.edu	37	11	43348116	43348116	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:43348116C>T	uc010rfh.1	+	6	983	c.810C>T	c.(808-810)ctC>ctT	p.L270L	API5_uc001mxf.2_Silent_p.L270L|API5_uc010rfg.1_Silent_p.L259L|API5_uc010rfi.1_Silent_p.L216L|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Silent_p.L144L	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	270					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCCCTAACCTCGGTACCTTGA	0.368000														158			55		0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760567	176760567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:176760567C>T	uc001gkz.3	+	18	6133	c.4969C>T	c.(4969-4971)Ccc>Tcc	p.P1657S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1657	Poly-Pro.|Sushi 5.		P -> R (in dbSNP:rs34602579).		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						CCCACCACCCCCCTCAGAGCT	0.428000														68			22		0	0	0.003330	0	0
BAAT	570	broad.mit.edu	37	9	104133228	104133228	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:104133228G>A	uc010mtd.3	-	1	568	c.459C>T	c.(457-459)ctC>ctT	p.L153L	BAAT_uc004bbd.4_Silent_p.L153L	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	153					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CACCTGGAGGGAGAAAGAGAG	0.438000														36			31		0	0	0.003271	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764926	109764926	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:109764926C>T	uc004eos.1	+	0		c.1387C>T								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TACTATTAATCGACATTGACC	0.408000														4			19		0	0	0.010504	0	0
LRGUK	136332	broad.mit.edu	37	7	133812131	133812132	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:133812131_133812132CC>TT	uc003vrm.1	+	0	27_28	c.11_12CC>TT	c.(10-12)tcc>tTT	p.S4F		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	4							ATP binding|kinase activity	p.S4S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATGGCGACCTCCGAGAGGGCTC	0.614000														78			26		0	0	0.004672	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444253	5444253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5444253C>T	uc010qzd.2	+	0	913	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACTGGTCCATGTTATCAT	0.473000														54			29		0	0	0.005443	0	0
CA10	56934	broad.mit.edu	37	17	49731087	49731087	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:49731087A>C	uc002itv.4	-	5	1230	c.494T>G	c.(493-495)aTc>aGc	p.I165S	CA10_uc002itw.4_Missense_Mutation_p.I159S|CA10_uc002itx.4_Missense_Mutation_p.I159S|CA10_uc002ity.4_Missense_Mutation_p.I159S|CA10_uc002itz.2_Missense_Mutation_p.I159S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	159					brain development			p.L165Q(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTTATAGTGGATGAGCTGCAC	0.408000														33			11		0	0	0.010729	0	0
TRAT1	50852	broad.mit.edu	37	3	108572544	108572544	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:108572544G>A	uc003dxi.1	+	5	525	c.381G>A	c.(379-381)caG>caA	p.Q127Q	TRAT1_uc010hpx.1_Silent_p.Q90Q	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	127					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCAGGAAACAGAATACTCATT	0.443000														18			14		0	0	0.001855	0	0
BAAT	570	broad.mit.edu	37	9	104125033	104125033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:104125033G>A	uc010mtd.3	-	3	1043	c.934C>T	c.(934-936)Cct>Tct	p.P312S	BAAT_uc004bbd.4_Missense_Mutation_p.P312S	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	312					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTTCAATAGGAAACAAATAT	0.453000														39			40		0	0	0.010771	0	0
NR2F1	7025	broad.mit.edu	37	5	92923686	92923686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:92923686G>A	uc003kkj.3	+	1	2214	c.527G>A	c.(526-528)gGg>gAg	p.G176E	NR2F1_uc021ybj.1_Missense_Mutation_p.G125E|NR2F1_uc021ybk.1_Missense_Mutation_p.G151E	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTCACCAACGGGGACCCCCTC	0.607000														28			44		0	0	0.014410	0	0
DCBLD1	285761	broad.mit.edu	37	6	117853555	117853555	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117853555G>A	uc003pxs.3	+	6	844	c.719_splice	c.e6+1	p.D240_splice	ROS1_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Splice_Site_p.D240_splice	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 1 (DCBLD1), mRNA.	240	LCCL.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCTTTCGAGGGAGTAAGTATT	0.423000														14			9		0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	216052194	216052194	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216052194C>A	uc001hku.1	-	41	8857	c.8470G>T	c.(8470-8472)Gtt>Ttt	p.V2824F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2824	Fibronectin type-III 15.				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)		AATGGGCCAACATTCTGAGGT	0.468000										HNSCC(13;0.011)				79			17		1.99824e-07	2.09498e-07	0.004990	1	0
KLHL8	57563	broad.mit.edu	37	4	88116516	88116516	+	Missense_Mutation	SNP	C	T	T	rs144616595		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:88116516C>T	uc011cdb.1	-	1	561	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	KLHL8_uc003hql.1_Missense_Mutation_p.R59Q|KLHL8_uc003hqm.1_Missense_Mutation_p.R59Q|KLHL8_uc003hqn.1_Missense_Mutation_p.R59Q|KLHL8_uc010ikj.1_5'UTR	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	59								p.L58L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTCATAAAATCGAAGAAGAGA	0.368000														44			15		0	0	0.004007	0	0
OR4A5	81318	broad.mit.edu	37	11	51411660	51411660	+	Missense_Mutation	SNP	G	A	A	rs146541729		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:51411660G>A	uc001nhi.2	-	0	789	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAAAAAAGAGGACAACAACG	0.403000														28			11		0	0	0.008291	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718189	46718189	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:46718189G>A	uc003cqa.2	-	17	2164	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	ALS2CL_uc003cpx.2_Silent_p.I4I|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.I172I|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.I657I	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	657					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCTCCTCCAGGATGTCTTCCA	0.652000														46			23		0	0	0.003954	0	0
SCN5A	6331	broad.mit.edu	37	3	38592926	38592926	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38592926A>C	uc021wvo.1	-	26	4989	c.4937T>G	c.(4936-4938)cTg>cGg	p.L1646R	SCN5A_uc021wvk.1_Missense_Mutation_p.L1613R|SCN5A_uc021wvl.1_Missense_Mutation_p.L1592R|SCN5A_uc021wvm.1_Missense_Mutation_p.L1628R|SCN5A_uc021wvn.1_Missense_Mutation_p.L1645R|SCN5A_uc021wvp.1_Missense_Mutation_p.L1646R|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.L1458R|SCN5A_uc021wvi.1_Missense_Mutation_p.L1512R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1646					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)	GGCAAAGAGCAGCGTGCGGAT	0.582000														86			31		0	0	0.013726	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928780	35928780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:35928780G>A	uc003olm.3	-	12	1669	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.R102C|SLC26A8_uc003oll.3_Missense_Mutation_p.R415C|SLC26A8_uc003oln.3_Missense_Mutation_p.R520C	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	520					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V519I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGTGTGAACGAACAGTGGTG	0.413000														39			16		0	0	0.004007	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822051	24822051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:24822051C>T	uc001iru.4	+	15	3702	c.3299C>T	c.(3298-3300)cCa>cTa	p.P1100L	KIAA1217_uc001irs.3_Missense_Mutation_p.P1020L|KIAA1217_uc001irt.4_Missense_Mutation_p.P1065L|KIAA1217_uc010qcy.2_Missense_Mutation_p.P1064L|KIAA1217_uc010qcz.2_Missense_Mutation_p.P1065L|KIAA1217_uc001irw.3_Missense_Mutation_p.P783L|KIAA1217_uc001irz.3_Missense_Mutation_p.P783L|KIAA1217_uc001irx.3_Missense_Mutation_p.P783L|KIAA1217_uc001iry.3_Missense_Mutation_p.P783L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1100					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACAAAATATCCAGCAGAGGAG	0.512000														16			26		0	0	0.003330	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058565	79058565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:79058565G>A	uc002bej.4	-	18	3899	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1230					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						GGCAGGTGGGGTGCTCCTCGG	0.647000														35			16		0	0	0.007413	0	0
KDR	3791	broad.mit.edu	37	4	55955585	55955585	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:55955585T>C	uc003has.3	-	24	3662	c.3360A>G	c.(3358-3360)aaA>aaG	p.K1120K	KDR_uc003hat.1_Silent_p.K1120K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1120	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTCCTTCTTTCAATCGCC	0.383000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				31			20		0	0	0.002780	0	0
DSC1	1823	broad.mit.edu	37	18	28720107	28720107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28720107G>A	uc002kwn.3	-	9	1680	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	DSC1_uc002kwm.3_Missense_Mutation_p.P473L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	473	Cadherin 4.				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)			TTTCACTGGAGGGTGGCATTC	0.473000														68			23		0	0	0.003954	0	0
PAK7	57144	broad.mit.edu	37	20	9538374	9538374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9538374C>T	uc002wnl.2	-	7	2169	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	PAK7_uc002wnk.2_Missense_Mutation_p.E542K|PAK7_uc002wnj.2_Missense_Mutation_p.E542K|PAK7_uc010gby.1_Missense_Mutation_p.E542K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	542	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTTCTTCATTCATTCTG	0.413000														38			18		0	0	0.007413	0	0
ICA1L	130026	broad.mit.edu	37	2	203693702	203693702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:203693702C>T	uc002uzh.1	-	2	195	c.31G>A	c.(31-33)Gat>Aat	p.D11N	ICA1L_uc002uzi.1_Missense_Mutation_p.D11N|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.D11N|ICA1L_uc002uzk.1_Missense_Mutation_p.D11N	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	11										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACTGATTATCTTCTGGTCTG	0.383000														145			278		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140739823	140739823	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140739823C>T	uc003ljs.2	+	0	121	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Silent_p.L41L	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	39	Cadherin 1.				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)			TCCAGAGGAGCTGGCCAAAAA	0.607000											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			16		0	0	0.004990	0	0
BVES	11149	broad.mit.edu	37	6	105577305	105577305	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:105577305G>A	uc003pqw.3	-	2	457	c.300C>T	c.(298-300)ttC>ttT	p.F100F	BVES_uc003pqx.3_Silent_p.F100F|BVES_uc003pqy.3_Silent_p.F100F	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	100					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)				TGACACCCAAGAACACAGAGT	0.358000														74			46		0	0	0.013114	0	0
NCOR2	9612	broad.mit.edu	37	12	124979719	124979720	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:124979719_124979720GG>TA	uc021rga.1	-	0	195_196	c.78_79CC>TA	c.(76-81)taccca>taTAca	p.P27T	NCOR2_uc021rgb.1_Missense_Mutation_p.P27T|NCOR2_uc010tbb.2_Missense_Mutation_p.P27T|NCOR2_uc010tbc.2_Missense_Mutation_p.P27T|NCOR2_uc021rgc.1_Missense_Mutation_p.P27T|NCOR2_uc010tba.2_Missense_Mutation_p.P27T|NCOR2_uc001ugj.1_Missense_Mutation_p.P27T|NCOR2_uc001ugk.1_Missense_Mutation_p.P27T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	27					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATCTGCACTGGGTAGGAAAGGC	0.649000														28			17		0	0	0.004672	0	0
CDK13	8621	broad.mit.edu	37	7	40041576	40041576	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:40041576A>T	uc003thh.4	+	4	2581	c.2299A>T	c.(2299-2301)Atg>Ttg	p.M767L	CDK13_uc003thi.4_Missense_Mutation_p.M767L|CDK13_uc011kbf.2_Missense_Mutation_p.M153L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	767	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATTATCAATATGAAGGAAAT	0.323000														97			19		0	0	0.007413	0	0
ENPP4	22875	broad.mit.edu	37	6	46107699	46107699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:46107699G>A	uc003oxy.3	+	1	638	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	127						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TCAGCTTCAGGAAAACAGATC	0.418000														81			43		0	0	0.008740	0	0
OR13C9	286362	broad.mit.edu	37	9	107379931	107379931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:107379931C>T	uc011lvr.2	-	0	555	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGGCCAACTTCATGACAGCTA	0.408000														21			21		0	0	0.010504	0	0
NOS1	4842	broad.mit.edu	37	12	117768797	117768797	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:117768797C>T	uc001twn.2	-	1	789	c.78G>A	c.(76-78)ggG>ggA	p.G26G	NOS1_uc001twm.2_Silent_p.G26G	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	26	Interaction with NOSIP (By similarity).|PDZ.				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)	ATCCCAGGCCCCCAACTTTGC	0.567000														59			21		0	0	0.012319	0	0
TNN	63923	broad.mit.edu	37	1	175113555	175113555	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175113555T>C	uc001gkl.1	+	17	3741	c.3628T>C	c.(3628-3630)Ttt>Ctt	p.F1210L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1210	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGATGGAAGTTTACAACTTT	0.507000														167			42		0	0	0.009718	0	0
TEX33	339669	broad.mit.edu	37	22	37395952	37395952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:37395952G>A	uc003aqf.3	-	3	709	c.563C>T	c.(562-564)cCt>cTt	p.P188L	TEX33_uc003aqe.3_Missense_Mutation_p.P103L	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	188																	GATTTCCACAGGATTCTGGGT	0.542000														51			32		0	0	0.003271	0	0
DCHS2	54798	broad.mit.edu	37	4	155155886	155155886	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:155155886C>T	uc003inw.2	-	24	8553	c.8553G>A	c.(8551-8553)ccG>ccA	p.P2851P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2851					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P2851L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGGTGTTTCGGAGGCACCT	0.527000														94			45		0	0	0.010771	0	0
UNC13A	23025	broad.mit.edu	37	19	17728550	17728550	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:17728550G>A	uc021uqk.1	-	39	4558	c.4516C>T	c.(4516-4518)Ctg>Ttg	p.L1506L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1507	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTGATTAGCAGGTCGGTGGCC	0.637000														107			34		0	0	0.004289	0	0
ZNF91	7644	broad.mit.edu	37	19	23542382	23542382	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:23542382G>A	uc002nre.3	-	3	3512	c.3399C>T	c.(3397-3399)ccC>ccT	p.P1133P	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Silent_p.P1101P	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CACATTTGTAGGGTTTCTCTC	0.393000														36			15		0	0	0.003163	0	0
FAM135B	51059	broad.mit.edu	37	8	139164922	139164922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:139164922C>T	uc003yuy.3	-	12	1967	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	FAM135B_uc003yux.3_Missense_Mutation_p.G500E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G161E|FAM135B_uc003yvb.3_Missense_Mutation_p.G161E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	599										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)			TTGGTGGCTTCCACCTACTAC	0.468000										HNSCC(54;0.14)				114			30		0	0	0.004289	0	0
LRFN2	57497	broad.mit.edu	37	6	40400562	40400562	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:40400562C>T	uc003oph.1	-	1	756	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	97						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)					TCTCGAGGTCCAGAAAGGAAA	0.607000														52			23		0	0	0.003330	0	0
ARID3A	1820	broad.mit.edu	37	19	964880	964880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:964880G>A	uc002lql.3	+	5	1288	c.998G>A	c.(997-999)aGt>aAt	p.S333N		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	333						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)		CGGGGCCTCAGTAACCCCAAT	0.632000														32			24		0	0	0.005443	0	0
FANCI	55215	broad.mit.edu	37	15	89848902	89848902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:89848902G>A	uc010bnp.1	+	30	3412	c.3322G>A	c.(3322-3324)Gga>Aga	p.G1108R	FANCI_uc002bnm.1_Missense_Mutation_p.G1048R|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.G869R|FANCI_uc002bnq.1_Missense_Mutation_p.G521R	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1108					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGCTTAAGGGACAAGTGAG	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					56			29		0	0	0.007291	0	0
C2orf16	84226	broad.mit.edu	37	2	27801308	27801308	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:27801308A>C	uc002rkz.4	+	0	1920	c.1869A>C	c.(1867-1869)gaA>gaC	p.E623D		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	623										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)					TAGCCCTAGAATCAGGAATTG	0.423000														21			34		0	0	0.003271	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:188924639C>T	uc003izh.1	+	3	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000														58			35		0	0	0.004878	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117243	117243	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrGL000205.1:117243C>T	uc002kgk.4	+	0		c.621C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGAGGAATTCGCCCCCAGAT	0.522000														64			8		0	0	0.003080	0	0
KRT76	51350	broad.mit.edu	37	12	53165697	53165697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53165697C>T	uc001sax.3	-	5	1275	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	407	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCTGGATCATCCTGTTGA	0.557000														74			33		0	0	0.003271	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324641	61324641	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:61324641T>A	uc002lji.3	-	5	619	c.475A>T	c.(475-477)Att>Ttt	p.I159F	SERPINB3_uc002ljg.3_Missense_Mutation_p.I159F|SERPINB3_uc010dqa.3_Missense_Mutation_p.I159F	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	159					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGGTTTTTAATTTTTTCTGCA	0.348000														55			29		0	0	0.009535	0	0
KIF4B	285643	broad.mit.edu	37	5	154394968	154394968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:154394968C>T	uc010jih.1	+	0	1709	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	517					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)			TCAGCATGCTCTCCATCAAGC	0.493000														27			21		0	0	0.008871	0	0
WDR16	146845	broad.mit.edu	37	17	9532059	9532059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:9532059G>A	uc010coc.3	+	9	1355	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	WDR16_uc002gly.3_Missense_Mutation_p.E366K|WDR16_uc002glz.3_Missense_Mutation_p.E298K			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	366						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCCAACAGGGAGCTGCTGCG	0.527000														13			14		0	0	0.003163	0	0
GEMIN4	50628	broad.mit.edu	37	17	650010	650010	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:650010A>T	uc002frs.1	-	1	1392	c.1273T>A	c.(1273-1275)Ttt>Att	p.F425I	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	425					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGAGGCAAAAATGTAGCAC	0.562000														27			11		0	0	0.008291	0	0
AKNA	80709	broad.mit.edu	37	9	117109058	117109058	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:117109058G>A	uc004biq.3	-	15	3540	c.3405C>T	c.(3403-3405)tcC>tcT	p.S1135S	AKNA_uc004bin.3_Silent_p.S382S|AKNA_uc004bio.3_Silent_p.S595S|AKNA_uc004bip.3_Silent_p.S1054S|AKNA_uc004bir.3_Silent_p.S1135S|AKNA_uc004bis.3_Silent_p.S1135S|AKNA_uc010mve.2_Silent_p.S1016S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ATCTCTCTGTGGATTTACTAG	0.493000														12			17		0	0	0.006122	0	0
RGPD4	285190	broad.mit.edu	37	2	108489210	108489210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:108489210G>A	uc010ywk.2	+	19	4832	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K	RGPD4_uc002tdu.3_Missense_Mutation_p.E771K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1584					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAACAACAGTGAAACTAGTTC	0.368000														141			219		0	0	0.014410	0	0
GRAMD4	23151	broad.mit.edu	37	22	47058961	47058961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:47058961C>T	uc003bhx.3	+	4	540	c.491C>T	c.(490-492)tCg>tTg	p.S164L	GRAMD4_uc010had.3_Missense_Mutation_p.S103L	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	164					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGGCTGTCCTCGCGCCTGCAG	0.672000														43			25		0	0	0.005443	0	0
COL7A1	1294	broad.mit.edu	37	3	48626092	48626092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:48626092G>A	uc003ctz.2	-	18	2571	c.2570C>T	c.(2569-2571)tCc>tTc	p.S857F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	857	Fibronectin type-III 7.|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)		GACAACAATGGAGACAGGTGT	0.582000														29			15		0	0	0.003163	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340393	29340393	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:29340393G>A	uc002kxa.2	-	0	451	c.232C>T	c.(232-234)Cga>Tga	p.R78*		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	78					transport	integral to membrane|mitochondrial inner membrane											TACAAATTTCGAAATCCATCC	0.463000														75			33		0	0	0.013726	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757235	56757235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:56757235C>T	uc010rjp.2	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CACAGTTATTCCCATGTTAAA	0.318000														33			18		0	0	0.008871	0	0
TRIM58	25893	broad.mit.edu	37	1	248031151	248031151	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248031151T>G	uc001ido.3	+	3	800	c.752T>G	c.(751-753)gTg>gGg	p.V251G	OR2W3_uc001idp.1_5'Flank	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	251						intracellular	zinc ion binding	p.G250C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCAGGGTGTGAGAGGAGTC	0.468000														54			32		0	0	0.003271	0	0
OR5L2	26338	broad.mit.edu	37	11	55595297	55595297	+	Silent	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:55595297G>T	uc001nhy.1	+	0	603	c.603G>T	c.(601-603)ctG>ctT	p.L201L		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCTGTTCCTGGTGGCCACTT	0.458000										HNSCC(27;0.073)				96			49		3.05275e-18	3.21853e-18	0.013114	1	0
CETN1	1068	broad.mit.edu	37	18	580612	580612	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:580612G>A	uc002kko.1	+	0	244	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	68	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAAGGAAGAGATGAAGAAAA	0.552000														22			13		0	0	0.013537	0	0
FBN1	2200	broad.mit.edu	37	15	48719795	48719795	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:48719795G>A	uc001zwx.2	-	57	7568	c.7173C>T	c.(7171-7173)ccC>ccT	p.P2391P	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2391					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTCGGCCATGGGGACAGAGTT	0.473000														51			29		0	0	0.003271	0	0
XKR6	286046	broad.mit.edu	37	8	10782166	10782166	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10782166C>T	uc003wtk.1	-	1	966	c.939G>A	c.(937-939)aaG>aaA	p.K313K		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	313						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGGCGCTGTTCTTCTGGAGCA	0.657000														61			34		0	0	0.003755	0	0
SGCZ	137868	broad.mit.edu	37	8	13965682	13965683	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:13965682_13965683GG>AA	uc003wwq.3	-	5	1269_1270	c.609_610CC>TT	c.(607-612)tcccaa>tcTTaa	p.Q204*	SGCZ_uc010lss.3_Nonsense_Mutation_p.Q157*	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	191					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.Q204K(2)		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)		CTGAGATCTTGGGATGGCTCTG	0.436000														46			25		0	0	0.004672	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315548	30315548	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:30315548C>G	uc009xle.2	-	2	3666	c.3529G>C	c.(3529-3531)Gat>Cat	p.D1177H	KIAA1462_uc001iux.3_Missense_Mutation_p.D1177H|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.D1039H	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1177										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						CCGTCCACATCTGAGTGCTCA	0.572000														62			60		0	0	0.014410	0	0
CGREF1	10669	broad.mit.edu	37	2	27324160	27324160	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:27324160C>T	uc010eyr.2	-	5	1259	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Silent_p.V313V|CGREF1_uc021vfa.1_Silent_p.V313V|CGREF1_uc010eys.2_Silent_p.V296V|CGREF1_uc002rir.2_Silent_p.V296V	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	296					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCATTCTCCACTTGAACAA	0.502000														68			121		0	0	0.014410	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:43922587G>A	uc010wka.2	+	0	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000														37			25		0	0	0.005443	0	0
CD163L1	283316	broad.mit.edu	37	12	7520754	7520754	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7520754A>C	uc010sge.2	-	16	4168	c.4142T>G	c.(4141-4143)cTt>cGt	p.L1381R	CD163L1_uc001qsy.3_Missense_Mutation_p.L1371R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1371						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						AACCAGGAGAAGGAGCCCAAA	0.373000														40			16		0	0	0.004990	0	0
ASB2	51676	broad.mit.edu	37	14	94413746	94413746	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94413746T>C	uc001ycd.3	-	6	1371	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	ASB2_uc001ycc.2_Missense_Mutation_p.N286S|ASB2_uc001yce.1_Missense_Mutation_p.N232S	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	286					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCGTCCTTGTTGGTCTTGTT	0.632000														28			21		0	0	0.002780	0	0
OR5M11	219487	broad.mit.edu	37	11	56310405	56310405	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:56310405T>G	uc010rjl.2	-	0	329	c.329A>C	c.(328-330)gAg>gCg	p.E110A	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CATGTAAAACTCAGTGAGTAG	0.473000														28			10		0	0	0.008291	0	0
HYDIN	54768	broad.mit.edu	37	16	71163659	71163659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:71163659C>T	uc002ezr.3	-	8	1262	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	HYDIN_uc010cfz.2_Missense_Mutation_p.D116N|HYDIN_uc021tkq.1_Missense_Mutation_p.D371N|HYDIN_uc010vmc.2_Missense_Mutation_p.D388N|HYDIN_uc010vmd.2_Missense_Mutation_p.D398N|HYDIN_uc002ezw.4_Missense_Mutation_p.D388N	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	371										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)				AGTAAAGGATCAGTAATGCAC	0.443000														15			7		0	0	0.001855	0	0
DPT	1805	broad.mit.edu	37	1	168698368	168698368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:168698368C>T	uc001gfp.3	-	0	75	c.45G>A	c.(43-45)atG>atA	p.M15I		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	15					cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCCCCAGGCCATGGTGACTA	0.512000														37			9		0	0	0.004482	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499311	150499311	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150499311G>A	uc003whx.1	+	2	261	c.183G>A	c.(181-183)caG>caA	p.Q61Q	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	61						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGATGCAGATCGTGCTGG	0.557000														61			21		0	0	0.010504	0	0
PLCB4	5332	broad.mit.edu	37	20	9440329	9440329	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9440329C>T	uc021wam.1	+	30	3099	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	PLCB4_uc010gbx.3_Silent_p.I1040I|PLCB4_uc021wal.1_Silent_p.I1028I|PLCB4_uc002wnh.3_Silent_p.I875I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1028					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGAAATGATCAATACCCACA	0.483000														27			7		0	0	0.003080	0	0
LRP4	4038	broad.mit.edu	37	11	46917529	46917529	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46917529A>C	uc001ndn.4	-	9	1332	c.1089T>G	c.(1087-1089)ggT>ggG	p.G363G		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	363	EGF-like 1; calcium-binding (Potential).				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGCACAGCCACCGTTGTTAA	0.622000														66			16		0	0	0.006122	0	0
LGSN	51557	broad.mit.edu	37	6	63990434	63990434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:63990434C>T	uc003peh.3	-	3	1056	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	LGSN_uc003pei.3_Missense_Mutation_p.G201R	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	341					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CCATTTTTTCCCAGTGATCGT	0.483000														75			22		0	0	0.012319	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474341	145474341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:145474341C>T	uc021ouy.1	+	0	1013	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.P338L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	338	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCATGGAGCCAGTGGAGCTG	0.652000														44			8		0	0	0.003080	0	0
CCDC81	60494	broad.mit.edu	37	11	86086284	86086284	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:86086284G>A	uc001pbx.2	+	1	507	c.79_splice	c.e1+1	p.E27_splice	CCDC81_uc001pbw.2_Splice_Site_p.E27_splice	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	27										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GAGCCAGGAGGGTAAGCGTGT	0.637000														115			53		0	0	0.014410	0	0
OR2M2	391194	broad.mit.edu	37	1	248344172	248344172	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248344172G>A	uc010pzf.2	+	0	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			TCCGCAACAAGGAGGTGACTA	0.453000														171			121		0	0	0.014410	0	0
SLC13A2	9058	broad.mit.edu	37	17	26800787	26800787	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:26800787C>T	uc010wan.2	+	0	124	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC13A2_uc010wal.1_Silent_p.F19F|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.F19F|SLC13A2_uc010wao.2_Silent_p.F19F|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	19						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCGTGTTCTTCGTGCCCATTC	0.607000														21			10		0	0	0.013537	0	0
ABCC12	94160	broad.mit.edu	37	16	48173146	48173146	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:48173146C>T	uc002efc.1	-	4	1105	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.A253A|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	253	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAAAGGCGTACGCCGCACAAA	0.473000														48			33		0	0	0.010818	0	0
OR4K14	122740	broad.mit.edu	37	14	20482649	20482649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20482649G>A	uc010tky.2	-	0	704	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAGTGCTTTGGATGTGCTACC	0.507000														15			13		0	0	0.013537	0	0
OR51B2	79345	broad.mit.edu	37	11	5344769	5344769	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5344769C>T	uc001mao.1	-	0	814	c.759G>A	c.(757-759)gtG>gtA	p.V253V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAACCCATCACTGTAACAT	0.398000														30			13		0	0	0.002450	0	0
OR4K13	390433	broad.mit.edu	37	14	20502084	20502084	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20502084G>A	uc010tkz.2	-	0	834	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	278					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)		AGAGAGGTGTGAAAATTGTGT	0.333000														27			8		0	0	0.004482	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301965	110301965	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110301965A>C	uc001dyr.2	-	4	525	c.300T>G	c.(298-300)aaT>aaG	p.N100K	EPS8L3_uc001dys.2_Missense_Mutation_p.N100K|EPS8L3_uc001dyq.2_Missense_Mutation_p.N100K|EPS8L3_uc009wfm.2_Missense_Mutation_p.N66K|EPS8L3_uc009wfn.2_Missense_Mutation_p.N66K|EPS8L3_uc009wfo.2_Missense_Mutation_p.N47K	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	100						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGAGCGCCACATTCATGGCCT	0.597000														125			161		0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	215847887	215847887	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:215847887C>A	uc001hku.1	-	62	13753	c.13366G>T	c.(13366-13368)Ggc>Tgc	p.G4456C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4456	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T4455A(1)		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)		GATTCTGAGCCTGTGACTTGC	0.473000										HNSCC(13;0.011)				129			81		6.86016e-32	7.23723e-32	0.014410	1	0
ZDBF2	57683	broad.mit.edu	37	2	207172424	207172424	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:207172424C>G	uc002vbp.2	+	4	3422	c.3172C>G	c.(3172-3174)Cta>Gta	p.L1058V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1058							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						CCAACCTCAACTAGCTTTTTT	0.333000														28			50		0	0	0.014410	0	0
KCNA1	3736	broad.mit.edu	37	12	5021486	5021486	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:5021486C>T	uc001qnh.3	+	1	2047	c.942C>T	c.(940-942)atC>atT	p.I314I	KCNA1_uc021qts.1_Silent_p.I314I	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	314					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTCCAGATCCTGGGCCAGA	0.547000														40			20		0	0	0.005443	0	0
KCNH4	23415	broad.mit.edu	37	17	40315269	40315269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:40315269G>A	uc002hzb.2	-	13	2894	c.2561C>T	c.(2560-2562)cCc>cTc	p.P854L		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	854					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGGGAGCGGGGCCTTGGCAG	0.597000														42			22		0	0	0.003330	0	0
NFKB1	4790	broad.mit.edu	37	4	103504093	103504093	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:103504093C>T	uc011ceq.2	+	9	1370	c.903C>T	c.(901-903)tcC>tcT	p.S301S	NFKB1_uc011cep.2_Silent_p.S302S|NFKB1_uc011cer.2_Silent_p.S121S	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	301	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GAGATTTTTCCCCCACAGATG	0.373000														26			15		0	0	0.003163	0	0
DMBT1	1755	broad.mit.edu	37	10	124390686	124390686	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124390686C>T	uc001lgk.1	+	45	5954	c.5848C>T	c.(5848-5850)Ctg>Ttg	p.L1950L	DMBT1_uc001lgl.1_Silent_p.L1940L|DMBT1_uc001lgm.1_Silent_p.L1322L|DMBT1_uc021qaf.1_Silent_p.L1950L|DMBT1_uc021qag.1_Silent_p.L1940L|DMBT1_uc021qah.1_Silent_p.L1322L|DMBT1_uc009xzz.1_Silent_p.L1950L|DMBT1_uc010qtx.1_Silent_p.L670L|DMBT1_uc009yab.1_Silent_p.L653L|DMBT1_uc009yac.1_Silent_p.L244L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1950	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.L1950L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCATCACCCTGGACGATGT	0.552000														28			38		0	0	0.006230	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:32631037G>A	uc003ami.3	-	7	710	c.708C>T	c.(706-708)taC>taT	p.Y236Y		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000														97			53		0	0	0.014410	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501933	140501933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140501933G>A	uc003lip.1	+	0	353	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	118	Cadherin 1.				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)			TTTTTTCAAGGAGAATTATTG	0.433000														23			23		0	0	0.012319	0	0
PKN1	5585	broad.mit.edu	37	19	14580207	14580207	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:14580207C>T	uc002myp.3	+	15	2199	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	PKN1_uc002myq.3_Silent_p.F683F	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	677	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACACCCCTTCCTGGTGAACC	0.612000														93			34		0	0	0.013726	0	0
MYO18B	84700	broad.mit.edu	37	22	26299723	26299723	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:26299723G>A	uc003abz.1	+	30	5323	c.5073G>A	c.(5071-5073)tgG>tgA	p.W1691*	MYO18B_uc003aca.1_Nonsense_Mutation_p.W1572*|MYO18B_uc010guy.1_Nonsense_Mutation_p.W1573*|MYO18B_uc010guz.1_Nonsense_Mutation_p.W1571*|MYO18B_uc011aka.1_Nonsense_Mutation_p.W845*|MYO18B_uc011akb.1_Nonsense_Mutation_p.W1204*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1691	Gln-rich.|Tail.					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						AGAGGCTCTGGAAGTTGGAAT	0.552000														13			5		0	0	0.000602	0	0
TCRA	0	broad.mit.edu	37	14	22994658	22994658	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22994658A>C	uc001wbw.2	+	2	388	c.379A>C	c.(379-381)Aga>Cga	p.R127R	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_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Intron|TCRA_uc010ajz.1_Intron|TCRA_uc001wfs.2_Intron|TCRA_uc001wft.2_Intron|TCRA_uc001wfu.3_Intron|TCRA_uc001wfv.2_Intron|TCRA_uc001wfw.1_5'UTR|TCRA_uc021rqm.1_5'Flank|TCRA_uc001wfx.3_5'Flank|TCRA_uc001wfy.2_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																		ATACTTTGGAAGAGGAACTCA	0.488000														78			24		0	0	0.005443	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:10934997C>T	uc002yip.1	-	15	1164	c.796_splice	c.e15-1	p.E266_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E248_splice|TPTE_uc002yir.1_Splice_Site_p.E228_splice|TPTE_uc010gkv.1_Splice_Site_p.E128_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333000														113			11		0	0	0.010729	0	0
KDM2B	84678	broad.mit.edu	37	12	121878938	121878938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:121878938G>A	uc001uat.3	-	19	3487	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F	KDM2B_uc010szy.2_Missense_Mutation_p.S568F|KDM2B_uc001uaq.3_Missense_Mutation_p.S568F|KDM2B_uc001uar.3_Missense_Mutation_p.S719F|KDM2B_uc001uas.3_Missense_Mutation_p.S1059F|KDM2B_uc021rfd.1_Missense_Mutation_p.S1059F|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.S1128F|KDM2B_uc001uao.3_Missense_Mutation_p.S376F|KDM2B_uc010szx.2_Missense_Mutation_p.S376F|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1128					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						GAGGTCGAGGGAGACGGGCTG	0.607000														23			15		0	0	0.004007	0	0
EPHA7	2045	broad.mit.edu	37	6	93956522	93956522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93956522C>T	uc003poe.3	-	14	2955	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E	EPHA7_uc003pof.3_Missense_Mutation_p.G900E|EPHA7_uc011eac.2_Missense_Mutation_p.G901E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	905						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTACAAGTTCCCAGGGGAGT	0.403000														62			23		0	0	0.006320	0	0
LRFN3	79414	broad.mit.edu	37	19	36435786	36435786	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:36435786C>T	uc002oco.3	+	2	2204	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	584					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)			GCGTTTGCTCCCAGACCAAcg	0.711000														13			10		0	0	0.008291	0	0
CNTN5	53942	broad.mit.edu	37	11	100170010	100170010	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:100170010C>T	uc001pga.3	+	19	3006	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	CNTN5_uc001pfz.3_Silent_p.F834F|CNTN5_uc021qpb.1_Silent_p.F834F|CNTN5_uc021qpc.1_Silent_p.F760F|CNTN5_uc010ruk.2_Silent_p.F105F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	834	Fibronectin type-III 2.				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)		CTTCCAAATTCATTTATCGAG	0.428000														50			17		0	0	0.007413	0	0
G2E3	55632	broad.mit.edu	37	14	31085542	31085542	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:31085542C>T	uc001wqk.2	+	14	2077	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	G2E3_uc010tpf.1_Silent_p.S595S|G2E3_uc001wql.1_Silent_p.S153S	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	641	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGCAGTTCCATTCCTCCAG	0.348000														41			7		0	0	0.001984	0	0
MTMR3	8897	broad.mit.edu	37	22	30394825	30394825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:30394825C>T	uc003agv.4	+	7	864	c.536C>T	c.(535-537)tCc>tTc	p.S179F	MTMR3_uc003agu.4_Missense_Mutation_p.S179F|MTMR3_uc003agw.4_Missense_Mutation_p.S179F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	179	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGAGGATTTCCAACATCAAT	0.448000														13			12		0	0	0.010729	0	0
ZNF215	7762	broad.mit.edu	37	11	6977185	6977185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6977185C>T	uc001mey.3	+	6	1565	c.977C>T	c.(976-978)cCt>cTt	p.P326L	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.P88L|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	326					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTGGGAATTCCTTCAAGAAAG	0.308000														56			25		0	0	0.005443	0	0
GPR12	2835	broad.mit.edu	37	13	27333041	27333041	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:27333041G>A	uc021rhk.1	-	0	924	c.924C>T	c.(922-924)atC>atT	p.I308I	GPR12_uc010aal.3_Silent_p.I308I|GPR12_uc010tdl.2_Silent_p.I149I	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	308						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GCGCTTTCTGGATCTCTTGGT	0.557000														21			37		0	0	0.005524	0	0
OR56A4	120793	broad.mit.edu	37	11	6023368	6023368	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6023368G>A	uc010qzv.2	-	0	1011	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGGAATGAGGTGGTGCA	0.488000														38			6		0	0	0.001168	0	0
OR51B2	79345	broad.mit.edu	37	11	5344688	5344688	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5344688G>A	uc001mao.1	-	0	895	c.840C>T	c.(838-840)ctC>ctT	p.L280L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L280I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGAGGAAAGAGGAAGTAGA	0.358000														47			22		0	0	0.012319	0	0
HSF5	124535	broad.mit.edu	37	17	56557419	56557419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:56557419G>A	uc002iwi.1	-	1	884	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	254						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGGAAACGGAACCCCTTTA	0.473000														116			52		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9064386	9064386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9064386G>A	uc002mkp.3	-	2	23264	c.23060C>T	c.(23059-23061)cCa>cTa	p.P7687L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7689	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						CGGGGAGGATGGAGGGCTGGT	0.552000														40			18		0	0	0.006122	0	0
KRT5	3852	broad.mit.edu	37	12	52910428	52910428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:52910428C>T	uc001san.3	-	6	1595	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	KRT5_uc009zmh.3_Missense_Mutation_p.E478K	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	478	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCTGCATTCCTCGCCCTCC	0.557000														39			20		0	0	0.012319	0	0
RGAG1	57529	broad.mit.edu	37	X	109694786	109694786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:109694786C>T	uc004eor.2	+	2	1187	c.941C>T	c.(940-942)tCt>tTt	p.S314F	RGAG1_uc011msr.1_Missense_Mutation_p.S314F	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	314										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTAATGTCATCTCCAGGCTCT	0.493000														47			102		0	0	0.014410	0	0
PRMT8	56341	broad.mit.edu	37	12	3678727	3678727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:3678727C>T	uc001qmf.3	+	5	1076	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	PRMT8_uc009zed.3_Missense_Mutation_p.H228Y|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.3_Missense_Mutation_p.H51Y	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	237					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.H237H(1)|p.I236T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTTCAAAATCCACTGTAAGTC	0.522000														59			31		0	0	0.009535	0	0
MXRA5	25878	broad.mit.edu	37	X	3239636	3239636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:3239636C>T	uc004crg.4	-	4	4247	c.4090G>A	c.(4090-4092)Gaa>Aaa	p.E1364K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1364						extracellular region		p.E1364*(3)		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)				TCCTTAAATTCTCCCATAGTG	0.468000														5			13		0	0	0.002450	0	0
OR10A3	26496	broad.mit.edu	37	11	7960951	7960951	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:7960951C>T	uc010rbi.2	-	0	117	c.117G>A	c.(115-117)ctG>ctA	p.L39L		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATTTCCCATCAGGGTCACCA	0.473000														36			30		0	0	0.008361	0	0
MUTYH	4595	broad.mit.edu	37	1	45798075	45798075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:45798075G>A	uc001cnm.3	-	8	983	c.767C>T	c.(766-768)tCc>tTc	p.S256F	MUTYH_uc001cnf.3_Missense_Mutation_p.S231F|MUTYH_uc009vxo.3_Missense_Mutation_p.S231F|MUTYH_uc001cng.3_Missense_Mutation_p.S242F|MUTYH_uc001cnj.3_Missense_Mutation_p.S139F|MUTYH_uc001cni.3_Missense_Mutation_p.S231F|MUTYH_uc001cnh.3_Missense_Mutation_p.S232F|MUTYH_uc001cnl.3_Missense_Mutation_p.S245F|MUTYH_uc009vxp.3_Missense_Mutation_p.S259F|MUTYH_uc001cnn.3_Missense_Mutation_p.S246F|MUTYH_uc001cno.3_Missense_Mutation_p.S139F|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	256					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAGCTGCTGGGAAACAAGGGT	0.587000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					30			14		0	0	0.004007	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134660	13134660	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:13134660A>G	uc002wod.1	+	9	1579	c.1290A>G	c.(1288-1290)agA>agG	p.R430R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	430					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.R430T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGCTGCAGAGAGTACAGCAAC	0.433000														63			26		0	0	0.009535	0	0
MSR1	4481	broad.mit.edu	37	8	16012593	16012593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:16012593C>T	uc010lsu.3	-	5	996	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	MSR1_uc003wwz.3_Missense_Mutation_p.R293Q|MSR1_uc003wxa.3_Missense_Mutation_p.R293Q|MSR1_uc003wxb.3_Missense_Mutation_p.R293Q|MSR1_uc011kxz.2_Missense_Mutation_p.R67Q	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	293	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGGAAATCCTCGTGGACCACT	0.418000														43			9		0	0	0.006214	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475699	44475699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44475699G>A	uc001cll.3	-	3	668	c.476C>T	c.(475-477)tCc>tTc	p.S159F	SLC6A9_uc009vxe.2_Missense_Mutation_p.S15F|SLC6A9_uc010okm.1_Missense_Mutation_p.S86F|SLC6A9_uc001clm.3_Missense_Mutation_p.S105F|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.S90F|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Missense_Mutation_p.S86F|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	159						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTGGCCGAAGGAGAGCTCCAT	0.597000														73			36		0	0	0.013726	0	0
TLN2	83660	broad.mit.edu	37	15	63000709	63000709	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:63000709C>T	uc002alb.4	+	17	2181	c.2181C>T	c.(2179-2181)agC>agT	p.S727S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	727					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGTTGTGAGCCCCACTATTA	0.597000														63			25		0	0	0.005443	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361321	70361321	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70361321C>A	uc003hek.4	-	0	306	c.259G>T	c.(259-261)Gag>Tag	p.E87*	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Nonsense_Mutation_p.E87*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	87					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAATATCCTCAAACTCAGTT	0.358000														25			14		4.3838e-07	4.5932e-07	0.001855	1	0
PSG3	5671	broad.mit.edu	37	19	43236937	43236937	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:43236937G>A	uc002oue.3	-	3	841	c.709_splice	c.e3+1	p.P237_splice	PSG3_uc002ouf.3_Splice_Site|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	237					defense response|female pregnancy	extracellular region				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)				GATACTCACGGAGGAGATTCA	0.537000														202			106		0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	216052207	216052207	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216052207G>A	uc001hku.1	-	41	8844	c.8457C>T	c.(8455-8457)acC>acT	p.T2819T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2819					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)		TCTGAGGTACGGTGGGGTGAG	0.453000										HNSCC(13;0.011)				63			37		0	0	0.004289	0	0
DAB1	1600	broad.mit.edu	37	1	57536707	57536707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:57536707G>A	uc009vzx.1	-	6	906	c.586C>T	c.(586-588)Cct>Tct	p.P196S	DAB1_uc001cyt.1_Missense_Mutation_p.P196S|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.P196S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	196					cell differentiation|nervous system development			p.P196S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGTACACAGGATCTTCAACA	0.433000														93			42		0	0	0.011902	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460333	107460333	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:107460333T>C	uc002tdq.3	-	1	220	c.101A>G	c.(100-102)aAc>aGc	p.N34S	ST6GAL2_uc002tdr.3_Missense_Mutation_p.N34S|ST6GAL2_uc002tds.3_Missense_Mutation_p.N34S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	34					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCAGCGGGGTTGCTGTCGGT	0.562000														17			32		0	0	0.010818	0	0
FMO3	2328	broad.mit.edu	37	1	171080037	171080037	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:171080037C>T	uc001ghi.3	+	5	837	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FMO3_uc001ghh.3_Silent_p.F242F|FMO3_uc010pmb.2_Silent_p.F222F|FMO3_uc010pmc.2_Silent_p.F179F	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	242					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)					TTGGAACCTTCCTCAAGAACA	0.473000														176			27		0	0	0.004656	0	0
C12orf63	374467	broad.mit.edu	37	12	97051735	97051735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:97051735C>T	uc021rcc.1	+	3	529	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	151										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGGTTCTAGTCTTACCTTTGA	0.353000														103			36		0	0	0.004289	0	0
SCN7A	6332	broad.mit.edu	37	2	167262489	167262489	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:167262489G>A	uc002udu.2	-	24	4780	c.4650C>T	c.(4648-4650)ttC>ttT	p.F1550F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1550					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTTTGCCATGAAAAGAGGAG	0.438000														30			65		0	0	0.014410	0	0
AMPD3	272	broad.mit.edu	37	11	10506423	10506423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:10506423C>T	uc001min.1	+	4	1018	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	AMPD3_uc010rbz.1_Missense_Mutation_p.P57S|AMPD3_uc009yfw.1_Intron|AMPD3_uc009yfx.1_Missense_Mutation_p.P216S|AMPD3_uc001mio.1_Missense_Mutation_p.P216S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P223S|AMPD3_uc009yfy.2_Missense_Mutation_p.P216S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	216					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGATGCACCCCCCAACCTGGA	0.567000														60			40		0	0	0.013114	0	0
KCNH8	131096	broad.mit.edu	37	3	19295239	19295239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:19295239G>A	uc003cbk.1	+	1	365	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	KCNH8_uc011awe.1_Missense_Mutation_p.R57Q|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	57	PAS.					integral to membrane	two-component sensor activity	p.R57Q(2)|p.R57*(1)|p.R57R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGATTTGCCCGAACTGAAGTC	0.458000														133			81		0	0	0.014410	0	0
ZNF556	80032	broad.mit.edu	37	19	2878238	2878238	+	Missense_Mutation	SNP	G	A	A	rs35494032	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:2878238G>A	uc002lwp.1	+	3	1369	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	ZNF556_uc002lwq.3_Missense_Mutation_p.E427K	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	428			E -> K (in dbSNP:rs35494032).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGTAAATGCGAAAAATGTGG	0.448000														120			42		0	0	0.013114	0	0
SIX4	51804	broad.mit.edu	37	14	61190726	61190726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:61190726C>T	uc001xfc.3	-	0	127	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	SIX4_uc010app.1_Missense_Mutation_p.E15K	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	23			E -> Q (in a breast cancer sample; somatic mutation).			nucleus		p.E23Q(2)		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)		GAGGCGCTTTCCATCCCATTC	0.642000														103			56		0	0	0.014410	0	0
MSRB3	253827	broad.mit.edu	37	12	65847548	65847548	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:65847548C>T	uc001ssn.3	+	4	480	c.354C>T	c.(352-354)atC>atT	p.I118I	MSRB3_uc009zqp.3_Silent_p.I111I|MSRB3_uc001ssm.3_Silent_p.I111I|MSRB3_uc021qzy.1_Silent_p.I111I	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	118					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTGAGGCAATCACATTCACAG	0.468000														75			28		0	0	0.012213	0	0
TTC22	55001	broad.mit.edu	37	1	55266437	55266437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:55266437C>T	uc009vzt.1	-	0	505	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TTC22_uc001cxz.4_Missense_Mutation_p.E134K	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	134							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGGGCTCCTCTGCCAGGCCC	0.731000														6			3		0	0	0.004672	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454897	187454897	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187454897C>T	uc003izd.1	-	1	1017	c.999G>A	c.(997-999)tgG>tgA	p.W333*		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	333					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)	GAGACGGTTTCCATTTAACCC	0.478000														87			51		0	0	0.014410	0	0
MUC7	4589	broad.mit.edu	37	4	71347045	71347045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:71347045C>T	uc011cat.2	+	3	872	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MUC7_uc011cau.2_Missense_Mutation_p.P195L|MUC7_uc003hfj.3_Missense_Mutation_p.P195L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	195	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCCACACCTTCTGCAACT	0.592000														73			31		0	0	0.010818	0	0
COL19A1	1310	broad.mit.edu	37	6	70916851	70916851	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:70916851C>T	uc003pfc.1	+	51	3419	c.3302_splice	c.e51-1	p.A1101_splice		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1101	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGTCGTTAGCTCTGGGTTTG	0.512000														146			55		0	0	0.014410	0	0
NR1I2	8856	broad.mit.edu	37	3	119536041	119536041	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:119536041C>T	uc003edj.3	+	8	3126	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NR1I2_uc003edi.3_Silent_p.F392F|NR1I2_uc003edk.3_Silent_p.F468F|NR1I2_uc003edl.3_Silent_p.F317F	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	429	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGGAGTTGTTCGGCATCACAG	0.637000														28			38		0	0	0.006999	0	0
MYO15A	51168	broad.mit.edu	37	17	18023245	18023245	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:18023245C>T	uc021trm.1	+	0	1350	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	MYO15A_uc021trl.1_Silent_p.T377T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	377	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			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)					TCCACTACACCGTCCCCTATG	0.597000														36			30		0	0	0.013726	0	0
TG	7038	broad.mit.edu	37	8	133882003	133882003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:133882003C>T	uc003ytw.3	+	2	247	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	69	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R68G(1)		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)		GACGGCCGCTCCTGCTGGTGT	0.662000														65			19		0	0	0.008871	0	0
SEPT9	10801	broad.mit.edu	37	17	75398431	75398432	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:75398431_75398432GG>TA	uc002jts.4	+	2	493_494	c.367_368GG>TA	c.(367-369)ggg>TAg	p.G123*	SEPT9_uc010wtk.2_Nonsense_Mutation_p.G104*|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Nonsense_Mutation_p.G105*|SEPT9_uc002jtv.3_Nonsense_Mutation_p.G116*|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	123					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGAGAACGCCGGGGCCATCGGC	0.683000														26			9		0	0	0.004672	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467032	21467032	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:21467032G>A	uc003cce.3	-	5	1212	c.804C>T	c.(802-804)caC>caT	p.H268H		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	268						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGATTTCACAGTGAAATGTTT	0.428000														69			32		0	0	0.012213	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871470	20871471	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:20871470_20871471GG>AA	uc002dhz.3	-	2	793_794	c.652_653CC>TT	c.(652-654)cct>TTt	p.P218F	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	218	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CAATACCGGAGGATTGTTCTGG	0.500000														112			59		0	0	0.004672	0	0
PPEF2	5470	broad.mit.edu	37	4	76794405	76794405	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:76794405G>A	uc003hix.3	-	11	1738	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Nonsense_Mutation_p.R461*	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	461	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCCTCCTCGAATAGTGTTG	0.453000														65			30		0	0	0.010818	0	0
DPH3P1	100132911	broad.mit.edu	37	20	61477088	61477088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:61477088C>T	uc011aan.1	+	0	613	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	TCFL5_uc002ydo.3_Intron|TCFL5_uc002ydp.3_Intron	NM_080750	NP_542788	Q9H4G8	DPH3B_HUMAN	Homo sapiens DPH3, KTI11 homolog (S. cerevisiae) pseudogene 1 (DPH3P1), mRNA.	25							metal ion binding										ATATTTCTGTCCCTGCCCATG	0.507000														27			8		0	0	0.004482	0	0
FCGR2B	2213	broad.mit.edu	37	1	161642805	161642805	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:161642805G>A	uc001gaz.2	+	3	559	c.432G>A	c.(430-432)gaG>gaA	p.E144E	FCGR2B_uc009wum.2_Silent_p.E144E|FCGR2B_uc001gay.2_Silent_p.E143E|FCGR2B_uc001gba.2_Silent_p.E143E|FCGR2B_uc009wun.2_Silent_p.E137E|FCGR2B_uc001gbb.2_Silent_p.E144E	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	144	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					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)	AGTTCCAGGAGGGAGAAACCA	0.547000			T	?	ALL									19			8		0	0	0.001855	0	0
XIRP1	165904	broad.mit.edu	37	3	39229895	39229895	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:39229895G>A	uc003cjk.2	-	1	1271	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	XIRP1_uc003cji.3_Silent_p.L348L|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.L348L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	348							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCTCAAACAGATGCTGCTGC	0.602000														66			39		0	0	0.005524	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32632738	32632738	+	Silent	SNP	G	A	A	rs41556424		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:32632738G>A	uc021yvz.1	-	1	298	c.216C>T	c.(214-216)ttC>ttT	p.F72F	HLA-DQB1_uc010juc.2_Silent_p.F27F|HLA-DQB1_uc003obw.3_Silent_p.F72F|HLA-DQB1_uc011dqd.2_Silent_p.F72F|HLA-DQB1_uc011dqe.2_Silent_p.F72F	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	72	Beta-1.				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 membrane|lysosomal membrane	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGTCGCTGTCGAAGCGCGCGT	0.627000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					68			44		0	0	0.011902	0	0
CCDC132	55610	broad.mit.edu	37	7	92932784	92932784	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:92932784T>A	uc003umo.3	+	16	1502	c.1374T>A	c.(1372-1374)gaT>gaA	p.D458E	CCDC132_uc003ump.3_Missense_Mutation_p.D428E|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.D178E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	458										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CACGGCTCGATGAACTGAGAA	0.338000														84			39		0	0	0.007835	0	0
OR4E2	26686	broad.mit.edu	37	14	22133482	22133482	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22133482C>T	uc010tmd.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGTATTTCTTCCTGAGCAATC	0.423000														223			92		0	0	0.014410	0	0
KIF21B	23046	broad.mit.edu	37	1	200960078	200960078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:200960078G>A	uc001gvs.2	-	17	2971	c.2654C>T	c.(2653-2655)cCt>cTt	p.P885L	KIF21B_uc009wzl.2_Missense_Mutation_p.P885L|KIF21B_uc001gvr.2_Missense_Mutation_p.P885L|KIF21B_uc010ppn.2_Missense_Mutation_p.P885L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	885					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTGGGCGCAGGATGGTCCCC	0.637000														91			64		0	0	0.014410	0	0
OR51G1	79324	broad.mit.edu	37	11	4945490	4945490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4945490C>T	uc010qyr.2	-	0	80	c.80G>A	c.(79-81)gGc>gAc	p.G27D		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGATCCAGCCATGGAGACC	0.473000														22			11		0	0	0.008291	0	0
PLCL2	23228	broad.mit.edu	37	3	17052619	17052619	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:17052619A>C	uc011awc.2	+	2	1853	c.1757A>C	c.(1756-1758)cAg>cCg	p.Q586P	PLCL2_uc011awd.2_Missense_Mutation_p.Q468P	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	594					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAAATGTCTCAGAGGATGGGA	0.423000														22			11		0	0	0.008291	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														20			7		0	0	0.003080	0	0
TIMD4	91937	broad.mit.edu	37	5	156378700	156378700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:156378700G>A	uc003lwh.2	-	2	559	c.502C>T	c.(502-504)Cca>Tca	p.P168S	TIMD4_uc010jii.2_Missense_Mutation_p.P168S	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	168	Thr-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)			ACTGTTGTTGGAAGTGCAGCT	0.527000														565			17		0	0	0.007413	0	0
TSIX	9383	broad.mit.edu	37	X	73040479	73040479	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:73040479C>T	uc004ebn.2	+	0		c.28440C>T								Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		ATTGTCACATCAAAATACAAA	0.269000														2			7		0	0	0.003080	0	0
GJB6	10804	broad.mit.edu	37	13	20797125	20797125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:20797125C>T	uc001und.4	-	2	882	c.495G>A	c.(493-495)tgG>tgA	p.W165*	GJB6_uc001umz.4_Nonsense_Mutation_p.W165*|GJB6_uc001unb.4_Nonsense_Mutation_p.W165*|GJB6_uc001unc.4_Nonsense_Mutation_p.W165*|GJB6_uc001una.4_Nonsense_Mutation_p.W165*|GJB6_uc021rhb.1_Nonsense_Mutation_p.W165*	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	165					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		ATTTCAACACCCAGGGCAGGT	0.448000														16			12		0	0	0.001855	0	0
ABCA13	154664	broad.mit.edu	37	7	48349586	48349586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:48349586G>A	uc003toq.2	+	23	9388	c.9364G>A	c.(9364-9366)Gat>Aat	p.D3122N	ABCA13_uc010kys.1_Missense_Mutation_p.D196N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3122					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAAAGTGTGATCAGGAAAT	0.478000														154			25		0	0	0.004656	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898837	130898837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:130898837C>T	uc001uil.2	-	13	2701	c.2485G>A	c.(2485-2487)Gac>Aac	p.D829N		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	829						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAAAGGCGGTCTCGCCCGTAA	0.567000														72			36		0	0	0.014410	0	0
PEX6	5190	broad.mit.edu	37	6	42942632	42942632	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:42942632G>C	uc003otf.3	-	1	1120	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	343					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TGAAAGTGCCGGTAAAGAACA	0.463000														120			37		0	0	0.009718	0	0
C4BPB	725	broad.mit.edu	37	1	207269908	207269908	+	Missense_Mutation	SNP	G	A	A	rs75563598		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207269908G>A	uc009xcd.3	+	4	924	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	C4BPB_uc001hfi.3_Missense_Mutation_p.E150K|C4BPB_uc001hfj.3_Missense_Mutation_p.E151K|C4BPB_uc001hfl.3_Missense_Mutation_p.E151K|C4BPB_uc001hfk.3_Missense_Mutation_p.E150K|C4BPB_uc001hfm.3_Missense_Mutation_p.E151K	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	151					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TGGCTATTTTGAAGGAAATAA	0.468000														80			23		0	0	0.002780	0	0
HSP90B1	7184	broad.mit.edu	37	12	104332163	104332163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:104332163G>A	uc001tkb.1	+	6	1006	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	HSP90B1_uc010swg.1_5'UTR|HSP90B1_uc009zui.1_Missense_Mutation_p.E301K	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	301					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	agcagccaaagaagagaaaga	0.363000														13			4		0	0	0.009096	0	0
PRKCE	5581	broad.mit.edu	37	2	46237593	46237593	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:46237593G>A	uc002rut.3	+	9	1571	c.1374G>A	c.(1372-1374)agG>agA	p.R458R		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	458	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGAGAAGAGGATTTTGGCTC	0.493000														25			60		0	0	0.014410	0	0
OR51T1	401665	broad.mit.edu	37	11	4903722	4903722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4903722G>A	uc010qyp.2	+	0	674	c.674G>A	c.(673-675)aGt>aAt	p.S225N		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGATCAGCAGTTTTTGGGGA	0.438000														85			40		0	0	0.009718	0	0
THBS4	7060	broad.mit.edu	37	5	79372803	79372803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:79372803C>T	uc021yaw.1	+	15	2209	c.2018C>T	c.(2017-2019)cCa>cTa	p.P673L	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	673					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGGTATCCCAGACCTGGTG	0.567000														85			56		0	0	0.014410	0	0
UBE3B	89910	broad.mit.edu	37	12	109928861	109928861	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:109928861C>T	uc001top.3	+	8	1245	c.642C>T	c.(640-642)acC>acT	p.T214T	UBE3B_uc001toq.3_Silent_p.T214T|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.T214T	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	214					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						TATTGTTAACCCGTGGCCTGG	0.393000														24			20		0	0	0.012319	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469223	21469223	+	Missense_Mutation	SNP	G	A	A	rs144375696	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21469223G>A	uc001vyr.3	+	3	607	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLC39A2_uc001vys.3_Missense_Mutation_p.E40K	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	139						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGCAGGACGAAGAATGGGG	0.547000														108			42		0	0	0.009718	0	0
ROBO2	6092	broad.mit.edu	37	3	77542460	77542460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:77542460C>T	uc011bgk.2	+	4	1376	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ROBO2_uc021xat.1_Missense_Mutation_p.R261C|ROBO2_uc003dpy.4_Missense_Mutation_p.R245C|ROBO2_uc003dpz.3_Missense_Mutation_p.R245C|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	245	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R245C(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTAGAATTTCGTTGTCAAGT	0.418000														42			22		0	0	0.012319	0	0
TAAR5	9038	broad.mit.edu	37	6	132910798	132910798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132910798C>T	uc003qdk.2	-	0	80	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	10					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGGTGCTCTTCAGCACCTTGG	0.493000														47			17		0	0	0.008871	0	0
CARD11	84433	broad.mit.edu	37	7	2946451	2946451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:2946451C>T	uc003smv.3	-	24	3620	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1096	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.C1096F(1)|p.C1096C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AACTCCTCCTCCGTCTCAGGT	0.677000			Mis		DLBCL									29			30		0	0	0.010818	0	0
TCHH	7062	broad.mit.edu	37	1	152086520	152086520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152086520C>T	uc009wne.1	-	1	309	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	TCHH_uc001ezp.2_Missense_Mutation_p.E13K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	13	S-100-like.				keratinization	cytoskeleton	calcium ion binding			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)			TTGAAAATTTCAGTGATGTCA	0.363000														65			15		0	0	0.002450	0	0
PTPRD	5789	broad.mit.edu	37	9	8636727	8636727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:8636727C>T	uc003zkk.3	-	12	925	c.182G>A	c.(181-183)gGa>gAa	p.G61E	PTPRD_uc003zkp.3_Missense_Mutation_p.G61E|PTPRD_uc003zkq.3_Missense_Mutation_p.G61E|PTPRD_uc003zkr.3_Missense_Mutation_p.G61E|PTPRD_uc003zks.3_Missense_Mutation_p.G61E|PTPRD_uc022bdj.1_Missense_Mutation_p.G61E|PTPRD_uc003zkt.1_Missense_Mutation_p.G61E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	61	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G61E(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACTTTCTTTCCTTTTTTGTT	0.458000										TSP Lung(15;0.13)				57			25		0	0	0.004656	0	0
GPR148	344561	broad.mit.edu	37	2	131486883	131486883	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131486883C>T	uc002trv.2	+	0	241	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	53				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACTGGCTTTTCCTTCCCTCAA	0.632000														18			32		0	0	0.010818	0	0
GJA5	2702	broad.mit.edu	37	1	147231250	147231251	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:147231250_147231251GG>AA	uc021ovl.1	-	0	96_97	c.96_97CC>TT	c.(94-99)ttccgt>ttTTgt	p.R33C	GJA5_uc001eps.1_Missense_Mutation_p.R33C|GJA5_uc001ept.1_Missense_Mutation_p.R33C	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	33					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R33C(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACGAGCATACGGAATATGAAGA	0.550000														63			39		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13776579	13776579	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:13776579G>A	uc003jfd.2	-	54	9384	c.9342C>T	c.(9340-9342)ttC>ttT	p.F3114F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3114	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)					GCCATCGGCTGAACCAGTCAA	0.448000									Kartagener syndrome					42			104		0	0	0.014410	0	0
PIGR	5284	broad.mit.edu	37	1	207110943	207110943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207110943C>T	uc001hez.3	-	3	726	c.542G>A	c.(541-543)gGt>gAt	p.G181D	PIGR_uc009xbz.3_Missense_Mutation_p.G181D	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	181	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATTTACATAACCACTGGAGTC	0.473000														44			11		0	0	0.008291	0	0
OR2A5	393046	broad.mit.edu	37	7	143747612	143747613	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143747612_143747613GG>AA	uc011ktw.2	+	0	118_119	c.118_119GG>AA	c.(118-120)gga>AAa	p.G40K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CACCCTGCTGGGAAATGGGGCC	0.510000														62			31		0	0	0.004672	0	0
DMXL2	23312	broad.mit.edu	37	15	51773612	51773612	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:51773612G>A	uc010ufy.2	-	23	5916	c.5691C>T	c.(5689-5691)tgC>tgT	p.C1897C	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Silent_p.C1897C|DMXL2_uc010bfa.3_Silent_p.C1261C	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1897						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTAAAACAGGGCATCCAACTT	0.358000														95			42		0	0	0.010771	0	0
SPTA1	6708	broad.mit.edu	37	1	158627344	158627344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158627344C>T	uc001fst.1	-	18	2927	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	910					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)					GTTTCTGCTTCATGCAGGTCA	0.473000														158			106		0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32046847	32046847	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:32046847C>T	uc003nzl.2	-	10	4540	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1533					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						CCACGCGCTGCCCCTCGTGGA	0.687000														190			44		0	0	0.010771	0	0
ZNF287	57336	broad.mit.edu	37	17	16455518	16455518	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:16455518T>G	uc021trd.1	-	5	2556	c.1938A>C	c.(1936-1938)aaA>aaC	p.K646N	ZNF287_uc002gqi.2_Missense_Mutation_p.K646N	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	639					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTAAAGGGTTTTTCTCCAT	0.388000														14			14		0	0	0.001855	0	0
NCR1	9437	broad.mit.edu	37	19	55424075	55424075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55424075C>T	uc002qib.2	+	6	789	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	NCR1_uc002qic.2_Missense_Mutation_p.H250Y|NCR1_uc002qie.2_Missense_Mutation_p.H234Y|NCR1_uc002qid.2_Missense_Mutation_p.H156Y|NCR1_uc002qif.2_Missense_Mutation_p.H139Y|NCR1_uc010esj.2_Missense_Mutation_p.H144Y	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	251					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)		CCTCTGGGATCACACTGCCCA	0.478000														50			15		0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38793989	38793989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38793989G>A	uc021yzh.1	+	28	4014	c.3905G>A	c.(3904-3906)cGa>cAa	p.R1302Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R1085Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R1085Q(2)		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						TTACTCTGTCGATATCTGAAT	0.328000														41			26		0	0	0.006320	0	0
SHISA3	152573	broad.mit.edu	37	4	42403192	42403192	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:42403192C>T	uc003gwp.3	+	1	659	c.441C>T	c.(439-441)ccC>ccT	p.P147P		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	147					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						AGACCCTGCCCATGATCCTGA	0.607000														207			72		0	0	0.014410	0	0
RASAL3	64926	broad.mit.edu	37	19	15566920	15566920	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:15566920G>A	uc002nbe.2	-	10	1802	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S	RASAL3_uc002nbd.3_5'Flank	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	572	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTCACTCGTAGGAATGGATAA	0.567000														50			19		0	0	0.012319	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069442	6069442	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:6069442G>A	uc010ndi.3	-	1	530	c.66C>T	c.(64-66)aaC>aaT	p.N22N	NLGN4X_uc004crp.3_Silent_p.N22N|NLGN4X_uc010ndh.3_Silent_p.N22N|NLGN4X_uc004crq.3_Silent_p.N22N|NLGN4X_uc004crr.3_Silent_p.N22N|NLGN4X_uc010ndj.3_Silent_p.N22N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	22					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGACATTGGAGTTTAACATGA	0.493000														21			18		0	0	0.007413	0	0
PDP1	54704	broad.mit.edu	37	8	94935031	94935031	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:94935031C>T	uc011lgn.2	+	1	970	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PDP1_uc003ygf.3_Silent_p.S273S|PDP1_uc003yge.3_Silent_p.S248S|PDP1_uc010max.3_Silent_p.S273S|PDP1_uc011lgm.2_Silent_p.S248S|PDP1_uc022ayg.1_Silent_p.S248S	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	248					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ATGACATCTCCTTGGAGGCGC	0.468000														81			32		0	0	0.003755	0	0
ATP13A5	344905	broad.mit.edu	37	3	193051659	193051659	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:193051659G>A	uc011bsq.2	-	10	1152	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	384					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)		GGGGGTACAGGATGGATCTCA	0.453000														14			25		0	0	0.004656	0	0
RYR1	6261	broad.mit.edu	37	19	38976621	38976621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38976621C>T	uc002oit.3	+	33	5456	c.5326C>T	c.(5326-5328)Cat>Tat	p.H1776Y	RYR1_uc002oiu.3_Missense_Mutation_p.H1776Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1776	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCCCGCATCATTTCTCGCC	0.687000														29			15		0	0	0.003163	0	0
GPR31	2853	broad.mit.edu	37	6	167571113	167571113	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:167571113G>A	uc011egq.2	-	0	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	69						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGGCCAGGAAAGGCAGGC	0.657000														22			9		0	0	0.006214	0	0
PSAT1	29968	broad.mit.edu	37	9	80923395	80923395	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:80923395C>T	uc004ala.3	+	5	704	c.636C>T	c.(634-636)gtC>gtT	p.V212V	PSAT1_uc004alb.3_Silent_p.V212V	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	212					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGGTGATTGTCCGTGATGACC	0.517000														24			26		0	0	0.009535	0	0
UNC5D	137970	broad.mit.edu	37	8	35647877	35647877	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:35647877G>A	uc003xjr.2	+	17	2986	c.2658_splice	c.e17-1	p.R886_splice	UNC5D_uc003xjs.2_Splice_Site_p.R881_splice|UNC5D_uc003xju.2_Splice_Site_p.R462_splice|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	886	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCCATCTAGGAATTTATCTT	0.363000														53			27		0	0	0.004656	0	0
GSDMA	284110	broad.mit.edu	37	17	38122529	38122529	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38122529G>A	uc002htl.1	+	2	349	c.231G>A	c.(229-231)ggG>ggA	p.G77G	GSDMA_uc002htm.1_Silent_p.G77G	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	77					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGACACTGGGAATTTTGGCT	0.537000														42			26		0	0	0.005443	0	0
ASXL3	80816	broad.mit.edu	37	18	31320358	31320358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:31320358C>T	uc010dmg.1	+	10	3045	c.2990C>T	c.(2989-2991)cCt>cTt	p.P997L	ASXL3_uc002kxq.2_Missense_Mutation_p.P704L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	997					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						AGCAGCCCACCTGAGAAAGAA	0.438000														13			9		0	0	0.006214	0	0
LCE3D	84648	broad.mit.edu	37	1	152552221	152552221	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152552221C>T	uc021oza.1	-	0	192	c.192G>A	c.(190-192)cgG>cgA	p.R64R	LCE3D_uc001fab.3_Silent_p.R64R	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	64					keratinization			p.R64W(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCTCTGGCGCCGGCATCGGT	0.682000														94			79		0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38976836	38976836	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38976836C>T	uc002oit.3	+	33	5671	c.5541C>T	c.(5539-5541)acC>acT	p.T1847T	RYR1_uc002oiu.3_Silent_p.T1847T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1847	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T1847A(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGTGTCCACCCTGCTGGTAA	0.582000														190			69		0	0	0.014410	0	0
HECTD1	25831	broad.mit.edu	37	14	31637529	31637529	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:31637529G>A	uc001wrc.1	-	9	2086	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	HECTD1_uc001wrd.1_Nonsense_Mutation_p.Q48*	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	533					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATAGTTTGCTGAAATGTTTGT	0.348000														147			63		0	0	0.014410	0	0
KPNA1	3836	broad.mit.edu	37	3	122182787	122182787	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:122182787A>C	uc003efe.2	-	4	525	c.337_splice	c.e4+1	p.E113_splice	KPNA1_uc011bjr.1_Splice_Site|KPNA1_uc010hrh.2_Splice_Site	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	113					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCATAGCTCACCTTTTGAAA	0.353000														22			19		0	0	0.008871	0	0
PITPNM2	57605	broad.mit.edu	37	12	123519106	123519106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:123519106G>A	uc001uej.1	-	1	231	c.32C>T	c.(31-33)cCa>cTa	p.P11L	PITPNM2_uc001uek.1_Missense_Mutation_p.P11L|PITPNM2_uc009zxu.1_Missense_Mutation_p.P11L	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	11					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CACGGTCATTGGCAGAGGAAT	0.552000														76			34		0	0	0.005524	0	0
ZNF556	80032	broad.mit.edu	37	19	2877909	2877909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:2877909G>A	uc002lwp.1	+	3	1040	c.953G>A	c.(952-954)gGa>gAa	p.G318E	ZNF556_uc002lwq.3_Missense_Mutation_p.G317E	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TATAAGTGTGGAAAATGCGGG	0.507000														41			27		0	0	0.007291	0	0
DDX58	23586	broad.mit.edu	37	9	32500845	32500845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:32500845C>T	uc003zra.3	-	1	357	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.3_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	67	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon 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 transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AACCAGCCTTCCTCCTGGAGC	0.448000														49			35		0	0	0.003271	0	0
GNAS	2778	broad.mit.edu	37	20	57429123	57429123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:57429123C>T	uc002xzw.3	+	0	1088	c.803C>T	c.(802-804)cCc>cTc	p.P268L	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGCCTCACTCCCGCCGCGAAC	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				22			4		0	0	0.009096	0	0
TPK1	27010	broad.mit.edu	37	7	144320338	144320338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:144320338G>A	uc003weq.3	-	5	378	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TPK1_uc003weo.3_Missense_Mutation_p.S87L|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Missense_Mutation_p.S92L|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	92					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCAGGAGTTGAAATGAGCTC	0.308000														213			98		0	0	0.014410	0	0
FAM47A	158724	broad.mit.edu	37	X	34148365	34148365	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:34148365C>T	uc004ddg.3	-	0	2083	c.2031G>A	c.(2029-2031)agG>agA	p.R677R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	677										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTGGAATTTCCTGCCCCAGT	0.433000														18			27		0	0	0.005443	0	0
TLR8	51311	broad.mit.edu	37	X	12939092	12939092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:12939092G>A	uc004cvd.3	+	2	2157	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.D645N	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	645					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACACGTCTGGATTTATCCCT	0.368000														14			24		0	0	0.003954	0	0
TXNIP	10628	broad.mit.edu	37	1	145438945	145438945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:145438945C>T	uc001enn.4	+	0	484	c.143C>T	c.(142-144)gCt>gTt	p.A48V	TXNIP_uc010oys.2_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	48					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGATCCTGGCTTGCGGAGTG	0.547000														66			38		0	0	0.007835	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121698913	121698913	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:121698913C>T	uc003vjy.3	+	27	6983	c.6588C>T	c.(6586-6588)agC>agT	p.S2196S	PTPRZ1_uc011knt.2_Silent_p.S1336S|PTPRZ1_uc003vjz.3_Silent_p.S1329S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2196	Tyrosine-protein phosphatase 2.				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						ATCCAGATAGCCCCATTAGTA	0.358000														48			12		0	0	0.001855	0	0
TIMM44	10469	broad.mit.edu	37	19	8006055	8006055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8006055G>A	uc002miz.3	-	1	245	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	25					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGCTGGAAAGAAATTGGATT	0.547000														72			31		0	0	0.010818	0	0
CORIN	10699	broad.mit.edu	37	4	47644036	47644036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:47644036G>A	uc003gxm.3	-	15	2192	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	CORIN_uc011bzf.2_Missense_Mutation_p.S561F|CORIN_uc011bzg.2_Missense_Mutation_p.S633F	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	700	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATCAGAAAGGAAGAGGAGTT	0.448000														42			27		0	0	0.006320	0	0
SEZ6	124925	broad.mit.edu	37	17	27296881	27296881	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:27296881G>A	uc002hdp.2	-	3	1142	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.F316F|SEZ6_uc002hdq.1_Silent_p.F191F|SEZ6_uc010crz.1_Silent_p.F316F	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCCGCAGCAGGAAAGACTGGT	0.647000														24			9		0	0	0.004482	0	0
FAM5C	339479	broad.mit.edu	37	1	190130018	190130018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:190130018C>T	uc001gse.1	-	6	1196	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	FAM5C_uc010pot.1_Missense_Mutation_p.E220K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	322						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACTTGAATTCATCTGAAAAA	0.274000														72			59		0	0	0.014410	0	0
NLRP7	199713	broad.mit.edu	37	19	55451188	55451188	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55451188G>A	uc002qih.4	-	3	1075	c.999C>T	c.(997-999)ttC>ttT	p.F333F	NLRP7_uc010esk.3_Silent_p.F333F|NLRP7_uc002qig.4_Silent_p.F333F|NLRP7_uc002qii.4_Silent_p.F333F|NLRP7_uc010esl.3_Silent_p.F361F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	333	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)		AGTGTCTCAGGAAATAGGCCC	0.647000														31			20		0	0	0.002780	0	0
IGF2R	3482	broad.mit.edu	37	6	160494795	160494795	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:160494795T>G	uc003qta.3	+	34	5102	c.4954T>G	c.(4954-4956)Tgt>Ggt	p.C1652G		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1652					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACAGACCGAATGTTCCGTGAG	0.403000														35			12		0	0	0.002450	0	0
PRSS1	5644	broad.mit.edu	37	7	142459673	142459673	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142459673G>A	uc003wak.2	+	2	266	c.249G>A	c.(247-249)ggG>ggA	p.G83G	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_3'UTR|PRSS1_uc003wam.2_Silent_p.G23G	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	83	Peptidase S1.				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)			TCCTGGAGGGGAATGAGCAGT	0.547000														127			56		0	0	0.014410	0	0
C1orf43	25912	broad.mit.edu	37	1	154180059	154180059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:154180059G>A	uc001fei.2	-	6	1022	c.632C>T	c.(631-633)tCc>tTc	p.S211F	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001feg.2_Missense_Mutation_p.S177F|C1orf43_uc001feh.2_Missense_Mutation_p.S159F|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	211						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GACCTCAGGGGACTGAGTTAG	0.502000														207			34		0	0	0.004289	0	0
COL4A1	1282	broad.mit.edu	37	13	110845251	110845251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:110845251C>T	uc001vqw.4	-	22	1513	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	464	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCAACTCTCTCCTTTTTGACC	0.498000														25			22		0	0	0.003330	0	0
CHRM3	1131	broad.mit.edu	37	1	240072236	240072236	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240072236G>A	uc021plc.1	+	0	1485	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	CHRM3_uc001hyp.3_Silent_p.A495A	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	495					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)	CCCTCAGTGCGATCTTGCTTG	0.498000														91			72		0	0	0.014410	0	0
GABRA3	2556	broad.mit.edu	37	X	151358362	151358362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:151358362G>A	uc010ntk.1	-	8	1223	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	328					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|protein binding	p.S328F(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTAGGTAAGGAATTTCTGGC	0.458000														13			24		0	0	0.006320	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84882995	84882995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84882995C>T	uc010voh.1	+	3	591	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Missense_Mutation_p.R122C|CRISPLD2_uc002fin.4_Missense_Mutation_p.R122C	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	122						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTGCAGGTATCGCTCTCCGGG	0.642000														41			26		0	0	0.007291	0	0
STH	246744	broad.mit.edu	37	17	44076813	44076813	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:44076813C>T	uc002ijy.2	+	0	198	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAPT_uc010dau.3_Intron|MAPT_uc002ijr.4_Intron|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	Homo sapiens saitohin (STH), mRNA.	56						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGTAGCTTCCCTGTTGACCC	0.522000														40			15		0	0	0.002450	0	0
HNF4G	3174	broad.mit.edu	37	8	76471192	76471192	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:76471192A>T	uc003yaq.3	+	8	1172	c.902A>T	c.(901-903)cAa>cTa	p.Q301L	HNF4G_uc003yar.3_Missense_Mutation_p.Q338L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	301					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATCACGTGGCAAATGATTGAG	0.428000														81			30		0	0	0.008361	0	0
TNR	7143	broad.mit.edu	37	1	175375428	175375428	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175375428G>A	uc001gkp.1	-	0	504	c.423C>T	c.(421-423)atC>atT	p.I141I	TNR_uc009wwu.1_Silent_p.I141I|TNR_uc010pmz.1_Silent_p.I141I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	141					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I141I(2)		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)					CCAGCATCTCGATCCGGCTCA	0.597000														86			26		0	0	0.003954	0	0
CCDC68	80323	broad.mit.edu	37	18	52604176	52604176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:52604176C>T	uc002lfs.3	-	5	531	c.359G>A	c.(358-360)aGa>aAa	p.R120K	CCDC68_uc002lft.3_Missense_Mutation_p.R120K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	120										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCCTGCTTCTCTGGAGGCTTG	0.423000														46			27		0	0	0.013726	0	0
HDAC11	79885	broad.mit.edu	37	3	13543387	13543387	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:13543387T>G	uc003bxy.3	+	6	639	c.506T>G	c.(505-507)gTg>gGg	p.V169G	HDAC11_uc010heb.3_Missense_Mutation_p.W127G|HDAC11_uc011aux.2_5'UTR|HDAC11_uc011auy.2_Missense_Mutation_p.V118G	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	169	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	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)|transcription factor binding	p.R168H(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTTGAGCGTGTGGAGGGCATC	0.612000														85			33		0	0	0.006999	0	0
PSG3	5671	broad.mit.edu	37	19	43243169	43243169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:43243169G>A	uc002oue.3	-	1	269	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	46	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.V45V(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)				CTTCCCCTTGGAAACTTTGGT	0.463000														147			55		0	0	0.014410	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416259	57416260	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:57416259_57416260CC>TT	uc002eli.3	+	2	576_577	c.509_510CC>TT	c.(508-510)ccc>cTT	p.P170L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	170	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACCAGGCTCCCCCCGACGCCAA	0.678000														39			29		0	0	0.004672	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515377	26515377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:26515377G>A	uc001bln.4	+	19	1884	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	CNKSR1_uc001blm.4_Missense_Mutation_p.R602Q|CNKSR1_uc009vsd.3_Missense_Mutation_p.R344Q|CNKSR1_uc009vse.3_Missense_Mutation_p.R344Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	609					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCATGCGGCGCAACCGA	0.652000														77			44		0	0	0.013114	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72500919	72500919	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:72500919G>A	uc001jrg.3	+	12	1933	c.1933_splice	c.e12+1	p.D645_splice	ADAMTS14_uc001jrh.3_Splice_Site_p.D642_splice|ADAMTS14_uc001jri.1_Splice_Site_p.D165_splice	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	642	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGACGATGGTGAGTGGGCC	0.627000														12			8		0	0	0.006214	0	0
KRT78	196374	broad.mit.edu	37	12	53238393	53238393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53238393C>T	uc001sbc.1	-	4	935	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	291	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity	p.E291*(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGCGATCTCCTCGTACCGG	0.622000														49			10		0	0	0.006214	0	0
MC3R	4159	broad.mit.edu	37	20	54824259	54824259	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:54824259C>T	uc002xxb.2	+	0	472	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ACAACATCTTCGACTCCATGA	0.552000														82			20		0	0	0.012319	0	0
CELSR1	9620	broad.mit.edu	37	22	46930693	46930693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:46930693G>A	uc003bhw.1	-	0	2375	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	792	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTGTAATGGGAGCTCTGAAA	0.582000														22			21		0	0	0.010504	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745814	23745814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23745814G>A	uc001wja.2	-	1	771	c.623C>T	c.(622-624)cCt>cTt	p.P208L	HOMEZ_uc001wjb.2_Missense_Mutation_p.P210L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	208						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCACTGCCAGGTGTCATCAG	0.532000														80			31		0	0	0.008361	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314616	67314616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:67314616C>T	uc010cef.3	+	2	801	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PLEKHG4_uc002eso.4_Missense_Mutation_p.P168S|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Missense_Mutation_p.P168S|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Missense_Mutation_p.P168S|PLEKHG4_uc010ceg.3_Intron	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	168					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TTCCCAAGCCCCCAGTGGATC	0.612000														63			23		0	0	0.003954	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272197	43272198	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:43272197_43272198GG>AT	uc010gzg.3	-	9	1515_1516	c.1293_1294CC>AT	c.(1291-1296)gtccgg>gtATgg	p.R432W	PACSIN2_uc003bdg.4_Missense_Mutation_p.R432W|PACSIN2_uc003bdf.4_Missense_Mutation_p.R391W	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	432	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TACAGGGCCCGGACTCGCACTT	0.609000														43			15		0	0	0.004672	0	0
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:125316096C>T	uc011lyx.2	+	0	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGCTGATGATCATCACCATGG	0.502000														54			39		0	0	0.008740	0	0
GNA15	2769	broad.mit.edu	37	19	3151735	3151735	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:3151735G>A	uc002lxf.2	+	3	774	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	172					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCATCACCGAGGAGGGCTACG	0.627000														97			34		0	0	0.005524	0	0
CLCN1	1180	broad.mit.edu	37	7	143049035	143049035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143049035G>A	uc003wcr.1	+	22	3031	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	CLCN1_uc011ktc.1_Missense_Mutation_p.D594N	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	982					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)					AGACGAGGAGGATGAGGATGA	0.627000														64			47		0	0	0.014410	0	0
DDX60	55601	broad.mit.edu	37	4	169227682	169227682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169227682C>T	uc003irp.3	-	4	746	c.454G>A	c.(454-456)Gat>Aat	p.D152N		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	152							ATP binding|ATP-dependent helicase activity|RNA binding	p.D152N(3)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTGTAGATCGTTCAGGCCT	0.408000														53			27		0	0	0.004656	0	0
TDRD5	163589	broad.mit.edu	37	1	179562664	179562664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:179562664G>A	uc010pnp.2	+	2	820	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	TDRD5_uc021pfm.1_Missense_Mutation_p.R101Q|TDRD5_uc001gnf.2_Missense_Mutation_p.R101Q|TDRD5_uc021pfn.1_Missense_Mutation_p.R101Q	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	101					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						CATAAGCTTCGAAACTCAATG	0.433000														57			8		0	0	0.004482	0	0
OR2T1	26696	broad.mit.edu	37	1	248569979	248569979	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248569979C>T	uc010pzm.2	+	0	684	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCACTTCTTCTGTGAGGCAC	0.512000														108			24		0	0	0.003954	0	0
STAB2	55576	broad.mit.edu	37	12	104060106	104060106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:104060106G>A	uc001tjw.3	+	18	2246	c.2060G>A	c.(2059-2061)aGa>aAa	p.R687K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	687					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						TACTGGAGCAGATGTCCTGCT	0.552000														61			25		0	0	0.008361	0	0
HEATR1	55127	broad.mit.edu	37	1	236735812	236735812	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:236735812A>G	uc001hyd.2	-	25	3758	c.3606T>C	c.(3604-3606)tcT>tcC	p.S1202S	HEATR1_uc009xgh.2_Silent_p.S364S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1202					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTGCCAGTAAGAACCTCCAA	0.383000														63			31		0	0	0.012213	0	0
NR2F1	7025	broad.mit.edu	37	5	92929449	92929450	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:92929449_92929450CC>TT	uc003kkj.3	+	2	2860_2861	c.1173_1174CC>TT	c.(1171-1176)gtccgt>gtTTgt	p.R392C	NR2F1_uc021ybj.1_Missense_Mutation_p.R341C|NR2F1_uc021ybk.1_Missense_Mutation_p.R367C	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	392					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TCTTCTTCGTCCGTTTGGTAGG	0.569000														42			64		0	0	0.004672	0	0
LGALS14	56891	broad.mit.edu	37	19	40197274	40197274	+	Missense_Mutation	SNP	C	T	T	rs150238702		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:40197274C>T	uc002omf.3	+	2	581	c.140C>T	c.(139-141)tCg>tTg	p.S47L	LGALS14_uc002omg.3_Missense_Mutation_p.S18L	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	18	Galectin.					nucleus	sugar binding	p.S47L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCTGTTGGTTCGTGCGTGATA	0.507000														121			75		0	0	0.014410	0	0
BMP3	651	broad.mit.edu	37	4	81966934	81966934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:81966934C>T	uc003hmg.4	+	1	679	c.359C>T	c.(358-360)tCg>tTg	p.S120L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	120					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AATCTGACATCGCTAACCAAG	0.398000														55			31		0	0	0.004289	0	0
OR8B4	283162	broad.mit.edu	37	11	124294506	124294506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124294506C>T	uc010sak.2	-	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATGATACTTTCTGAAACAAAG	0.388000														18			21		0	0	0.012319	0	0
USH2A	7399	broad.mit.edu	37	1	216424272	216424272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216424272G>A	uc001hku.1	-	11	2527	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*	USH2A_uc001hkv.3_Nonsense_Mutation_p.Q714*	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	714	Laminin EGF-like 4.				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)		CACTTGCACTGGCCTGAATTT	0.408000										HNSCC(13;0.011)				48			12		0	0	0.001855	0	0
GBX1	2636	broad.mit.edu	37	7	150864110	150864110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150864110G>A	uc011kvg.2	-	0	758	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	176	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGACTTGGAAAAGTCTCT	0.652000														76			28		0	0	0.009535	0	0
OR4X2	119764	broad.mit.edu	37	11	48266970	48266970	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48266970C>T	uc001ngs.1	+	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I104F(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGAGATTTTCCTGCTCACTG	0.498000														61			30		0	0	0.009535	0	0
ZNF883	169834	broad.mit.edu	37	9	115760332	115760332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:115760332C>T	uc011lwy.2	-	4	1447	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCATTACATTCATAAGGTTTC	0.358000														13			13		0	0	0.013537	0	0
BNC1	646	broad.mit.edu	37	15	83932172	83932172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:83932172G>A	uc002bjt.1	-	3	1919	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	BNC1_uc010uos.1_Missense_Mutation_p.R599C	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	611					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R611C(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGATTCACGATGGCAGGGC	0.547000														61			29		0	0	0.013726	0	0
OR2J3	442186	broad.mit.edu	37	6	29080253	29080253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29080253C>T	uc011dll.2	+	0	586	c.586C>T	c.(586-588)Cat>Tat	p.H196Y		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTTGATACCCATGTCAATGA	0.463000														77			23		0	0	0.014323	0	0
ZNF322	79692	broad.mit.edu	37	6	26638664	26638664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:26638664C>T	uc021ynx.1	-	4	839	c.118G>A	c.(118-120)Ggt>Agt	p.G40S	ZNF322_uc003nij.3_5'Flank|ZNF322_uc003nil.4_Missense_Mutation_p.G40S|ZNF322_uc021yny.1_Missense_Mutation_p.G40S|ZNF322_uc021ynz.1_Missense_Mutation_p.G40S|ZNF322_uc021yoa.1_Missense_Mutation_p.G40S	NM_001242797	NP_001229726	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 1, mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										TATATATGACCATCTATCTGA	0.338000														316			66		0	0	0.014410	0	0
OR2B3	442184	broad.mit.edu	37	6	29054298	29054298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29054298G>A	uc003nlx.3	-	0	793	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.G242E(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AATCATGTGGGACCCACATGT	0.453000														22			23		0	0	0.012319	0	0
KCNA1	3736	broad.mit.edu	37	12	5021334	5021335	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:5021334_5021335CC>TT	uc001qnh.3	+	1	1895_1896	c.790_791CC>TT	c.(790-792)cct>TTt	p.P264F	KCNA1_uc021qts.1_Missense_Mutation_p.P264F	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	264					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCATCATTCCTTATTTCATC	0.545000														46			38		0	0	0.004672	0	0
OR51L1	119682	broad.mit.edu	37	11	5021040	5021040	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5021040C>T	uc010qyu.2	+	0	828	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGTCCACATCCTCATGGCAG	0.458000														38			18		0	0	0.007413	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490542	102490542	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:102490542A>C	uc002tbc.3	+	25	3257	c.2879_splice	c.e25-2	p.V960_splice	MAP4K4_uc002tbf.3_Splice_Site_p.V913_splice|MAP4K4_uc002tbd.3_Splice_Site_p.V852_splice|MAP4K4_uc010yvy.2_Splice_Site_p.V875_splice|MAP4K4_uc002tbh.3_Splice_Site_p.V797_splice|MAP4K4_uc002tbg.3_Splice_Site_p.V879_splice|MAP4K4_uc002tbi.3_Splice_Site_p.V682_splice|MAP4K4_uc010yvz.2_Splice_Site_p.V919_splice|MAP4K4_uc002tbk.3_Splice_Site_p.V334_splice|MAP4K4_uc021vlq.1_Splice_Site_p.V65_splice|MAP4K4_uc002tbl.3_Splice_Site_p.V65_splice	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	879	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTGTGTTTCAGTGGGATTTT	0.428000														11			21		0	0	0.002780	0	0
FBXO40	51725	broad.mit.edu	37	3	121340695	121340695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:121340695C>T	uc003eeg.2	+	2	629	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	140					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.R139R(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTTCAGATCCTTGAAAATG	0.493000														16			15		0	0	0.004990	0	0
TRAP1	10131	broad.mit.edu	37	16	3727657	3727657	+	Silent	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:3727657G>T	uc002cvt.4	-	5	635	c.546C>A	c.(544-546)gcC>gcA	p.A182A	TRAP1_uc002cvs.3_5'UTR|TRAP1_uc010uxf.2_Silent_p.A129A	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	182					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CATCCAGGAAGGCCTGTGGGG	0.592000														35			18		6.49762e-13	6.83768e-13	0.006122	1	0
CAPN12	147968	broad.mit.edu	37	19	39228929	39228929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:39228929C>T	uc002ojd.1	-	7	1258	c.949G>A	c.(949-951)Gag>Aag	p.E317K	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	317	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCGCCATCCTCCTTTTTCACC	0.652000														22			12		0	0	0.002450	0	0
USP7	7874	broad.mit.edu	37	16	8996003	8996003	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:8996003G>A	uc002czl.2	-	17	2182	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	USP7_uc010uyk.1_Silent_p.F562F|USP7_uc010uyj.1_Silent_p.F562F|USP7_uc002czk.2_Silent_p.F645F|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	661	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTGTTTCCAGGAATATTGTCC	0.463000														75			21		0	0	0.003330	0	0
POTED	317754	broad.mit.edu	37	21	14982936	14982936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:14982936G>A	uc002yjb.1	+	0	439	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	129						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCGCCTTCATGGAGCCGAGGT	0.602000														11			33		0	0	0.009535	0	0
LCT	3938	broad.mit.edu	37	2	136575460	136575460	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:136575460G>A	uc002tuu.1	-	5	1169	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	386	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.F386F(2)|p.G385C(1)		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)		CACCCCAGAGGAAGCCTTCAG	0.597000														32			81		0	0	0.014410	0	0
DENND3	22898	broad.mit.edu	37	8	142202548	142202548	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:142202548G>A	uc003yvy.3	+	21	3536	c.3258_splice	c.e21+1	p.E1086_splice	DENND3_uc010mep.3_Splice_Site_p.E1047_splice|DENND3_uc003ywa.1_Splice_Site_p.E136_splice|DENND3_uc003ywb.3_Splice_Site_p.E136_splice	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1086										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTTCCTGAGGTATCCCAGC	0.582000														38			14		0	0	0.003163	0	0
ZNF184	7738	broad.mit.edu	37	6	27419353	27419353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:27419353C>T	uc003njj.3	-	4	2796	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	ZNF184_uc010jqv.3_Missense_Mutation_p.R662Q|ZNF184_uc003nji.3_Missense_Mutation_p.R662Q	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGTGAATTCGTTGATGCTG	0.428000														116			25		0	0	0.005443	0	0
OR4C46	119749	broad.mit.edu	37	11	51515538	51515538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:51515538G>A	uc010ric.2	+	0	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCACTCTATGGAAAGAAGGCC	0.478000														101			43		0	0	0.008740	0	0
PTPRD	5789	broad.mit.edu	37	9	8504401	8504401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:8504401C>T	uc003zkk.3	-	22	2425	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PTPRD_uc003zkp.3_Missense_Mutation_p.R561Q|PTPRD_uc003zkq.3_Missense_Mutation_p.R561Q|PTPRD_uc003zkr.3_Missense_Mutation_p.R555Q|PTPRD_uc003zks.3_Missense_Mutation_p.R551Q|PTPRD_uc022bdj.1_Missense_Mutation_p.R558Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTAATTCGTTGCTGGAA	0.433000										TSP Lung(15;0.13)				89			35		0	0	0.005524	0	0
MACC1	346389	broad.mit.edu	37	7	20197851	20197851	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:20197851C>T	uc003sus.4	-	4	2442	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	MACC1_uc010kug.3_Silent_p.R711R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	711					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGAAACTTCCTTGTATTTC	0.318000														54			71		0	0	0.014410	0	0
CFHR5	81494	broad.mit.edu	37	1	196952101	196952101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196952101G>A	uc001gts.4	+	1	273	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	49	Sushi 1.				complement activation, alternative pathway	extracellular region		p.E49K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCCTACAGGGGAAGTTTTCTA	0.373000														80			48		0	0	0.014410	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779702	31779702	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31779702G>A	uc003nxh.3	-	1	231	c.48C>T	c.(46-48)acC>acT	p.T16T	HSPA1L_uc010jte.3_Silent_p.T16T|HSPA1L_uc021yuz.1_Silent_p.T16T	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	16					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CACAGGAGTAGGTGGTGCCCA	0.572000														360			88		0	0	0.014410	0	0
KCNV2	169522	broad.mit.edu	37	9	2718438	2718438	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:2718438C>T	uc003zho.2	+	0	913	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGAACTCTTCCGCGACATGC	0.682000														11			8		0	0	0.008291	0	0
ZNF827	152485	broad.mit.edu	37	4	146770626	146770626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:146770626G>A	uc003ikn.3	-	5	2117	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	ZNF827_uc003ikm.3_Missense_Mutation_p.P690L|ZNF827_uc010iox.3_Missense_Mutation_p.P340L	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTCCGGCTGGGTGATATCGA	0.507000														79			38		0	0	0.008740	0	0
GPR98	84059	broad.mit.edu	37	5	89989777	89989777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:89989777G>A	uc003kju.3	+	32	7300	c.7204G>A	c.(7204-7206)Gag>Aag	p.E2402K	GPR98_uc003kjt.3_Missense_Mutation_p.E108K|GPR98_uc003kjv.3_Missense_Mutation_p.E2K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2402					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGCAATGGAGGAAGGTCA	0.483000														9			17		0	0	0.004990	0	0
FER1L6	654463	broad.mit.edu	37	8	125074120	125074120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:125074120C>T	uc003yqw.3	+	24	3381	c.3175C>T	c.(3175-3177)Ccg>Tcg	p.P1059S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1059	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTTCTGCACCCGCCACTGAG	0.547000														77			48		0	0	0.014410	0	0
TRHDE	29953	broad.mit.edu	37	12	72969148	72969148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:72969148C>T	uc001sxa.3	+	10	2140	c.2110C>T	c.(2110-2112)Caa>Taa	p.Q704*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	704					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTAATTGATCAATTAATCCG	0.343000														40			20		0	0	0.012319	0	0
MYH4	4622	broad.mit.edu	37	17	10362699	10362699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10362699C>T	uc002gmn.3	-	14	1567	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	486	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCAGTTTCTCGTTGGTGAAG	0.433000														37			37		0	0	0.006230	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:10951345G>A	uc002yip.1	-	9	735	c.367C>T	c.(367-369)Cct>Tct	p.P123S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105S|TPTE_uc002yir.1_Missense_Mutation_p.P85S|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCCAAAGGAATATAAAGT	0.323000														103			24		0	0	0.006320	0	0
STH	246744	broad.mit.edu	37	17	44076811	44076811	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:44076811T>G	uc002ijy.2	+	0	196	c.166T>G	c.(166-168)Tcc>Gcc	p.S56A	MAPT_uc010dau.3_Intron|MAPT_uc002ijr.4_Intron|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	Homo sapiens saitohin (STH), mRNA.	56						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAAGTAGCTTCCCTGTTGAC	0.522000														40			15		0	0	0.002450	0	0
SEPT12	124404	broad.mit.edu	37	16	4833547	4833547	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:4833547G>A	uc002cxq.3	-	6	906	c.642C>T	c.(640-642)aaC>aaT	p.N214N	SEPT12_uc002cxr.3_Silent_p.N168N|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	214					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GGGTCCTCAGGTTCTGCTGGA	0.607000														70			36		0	0	0.009718	0	0
OR52I1	390037	broad.mit.edu	37	11	4616183	4616183	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4616183G>A	uc010qyi.2	+	0	915	c.915G>A	c.(913-915)ctG>ctA	p.L305L		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACAATTGCTGGAGGGAATAT	0.468000														91			32		0	0	0.013726	0	0
NOS3	4846	broad.mit.edu	37	7	150696302	150696302	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150696302C>T	uc003wif.3	+	8	1277	c.981C>T	c.(979-981)ggC>ggT	p.G327G	NOS3_uc011kuy.2_Silent_p.G121G|NOS3_uc011kva.2_Silent_p.G327G|NOS3_uc011kuz.2_Silent_p.G327G|NOS3_uc011kvb.2_Silent_p.G327G	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	327	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGCCCTGGGCCTGCGCTGGT	0.652000														71			40		0	0	0.006999	0	0
SLFN13	146857	broad.mit.edu	37	17	33767881	33767881	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33767881A>C	uc002hjk.1	-	3	2757	c.2427T>G	c.(2425-2427)gtT>gtG	p.V809V	SLFN13_uc010wch.1_Silent_p.V809V|SLFN13_uc002hjl.2_Silent_p.V809V|SLFN13_uc002hjm.2_Silent_p.V478V|SLFN13_uc010ctt.2_Silent_p.V491V	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	809						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAAGCACAGCAACATCCTTTG	0.443000														50			34		0	0	0.005524	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:87738864G>A	uc003ydx.3	-	2	281	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(2)		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						ATCTCCAGAGGAATTTTTCTT	0.428000														203			86		0	0	0.014410	0	0
TLR7	51284	broad.mit.edu	37	X	12903932	12903932	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:12903932C>G	uc004cvc.3	+	2	444	c.305C>G	c.(304-306)cCt>cGt	p.P102R		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	102					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACTGTGTACCTATTCCACTG	0.448000														77			6		0	0	0.001168	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005789	74005789	+	Silent	SNP	G	A	A	rs143690709		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:74005789G>A	uc003hgp.3	-	14	2661	c.2544C>T	c.(2542-2544)atC>atT	p.I848I	ANKRD17_uc003hgo.3_Silent_p.I735I|ANKRD17_uc003hgq.3_Intron|ANKRD17_uc003hgr.3_Silent_p.I848I|ANKRD17_uc011cbd.1_Silent_p.I413I	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	848					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGCTCCTCGATCTTCTCCT	0.418000														139			66		0	0	0.014410	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128850516	128850516	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:128850516G>A	uc009zcp.3	-	16	1866	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	ARHGAP32_uc009zcq.2_Silent_p.I582I|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Silent_p.I273I	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	622					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCTACTTCGATATATTTAT	0.418000														29			41		0	0	0.009718	0	0
SERPINC1	462	broad.mit.edu	37	1	173873052	173873052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:173873052C>T	uc001gjt.3	-	6	1489	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	457			R -> T (in AT3D; type-II).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTTGGCTACTCTGCCCATGAA	0.398000														72			14		0	0	0.001855	0	0
UBL7	84993	broad.mit.edu	37	15	74742300	74742300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:74742300G>A	uc002axw.1	-	6	803	c.641C>T	c.(640-642)tCc>tTc	p.S214F	UBL7_uc002axx.1_Missense_Mutation_p.S254F|UBL7_uc002axy.1_Missense_Mutation_p.S214F|UBL7_uc002axz.1_Missense_Mutation_p.S214F	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	214							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTATGAGCTGGAGGGCATGCT	0.592000														23			11		0	0	0.001855	0	0
IFNB1	3456	broad.mit.edu	37	9	21077397	21077397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:21077397C>T	uc003zok.3	-	0	547	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	158					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)	TGACTGTACTCCTTGGCCTTC	0.433000														113			48		0	0	0.014410	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566434	45566434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:45566434G>A	uc010dnv.3	-	2	1547	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	ZBTB7C_uc002ldb.3_Missense_Mutation_p.P349S|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P358S|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P349S|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P349S|ZBTB7C_uc010dny.1_Missense_Mutation_p.P349S|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P371S|ZBTB7C_uc010doi.1_Missense_Mutation_p.P349S|ZBTB7C_uc010doj.1_Missense_Mutation_p.P358S|ZBTB7C_uc010dok.1_Missense_Mutation_p.P398S|ZBTB7C_uc010dol.1_Missense_Mutation_p.P358S|ZBTB7C_uc010doa.1_Missense_Mutation_p.P371S|ZBTB7C_uc010dob.1_Missense_Mutation_p.P349S|ZBTB7C_uc010doc.1_Missense_Mutation_p.P358S|ZBTB7C_uc010dod.1_Missense_Mutation_p.P371S|ZBTB7C_uc010doe.1_Missense_Mutation_p.P349S|ZBTB7C_uc010dof.1_Missense_Mutation_p.P349S|ZBTB7C_uc010dog.1_Missense_Mutation_p.P349S|ZBTB7C_uc010doh.1_Missense_Mutation_p.P358S|ZBTB7C_uc010dom.1_Missense_Mutation_p.P358S|ZBTB7C_uc010don.1_Missense_Mutation_p.P357S|ZBTB7C_uc010dop.1_Missense_Mutation_p.P349S|ZBTB7C_uc010doq.1_Missense_Mutation_p.P358S|ZBTB7C_uc010dor.1_Missense_Mutation_p.P371S|ZBTB7C_uc010dos.1_Missense_Mutation_p.P349S|ZBTB7C_uc010dot.1_Missense_Mutation_p.P349S|ZBTB7C_uc010doo.1_Missense_Mutation_p.P349S|ZBTB7C_uc010dou.1_Missense_Mutation_p.P358S	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	349						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						AGGGGCCAGGGTGGGAAGAGG	0.647000														85			32		0	0	0.003271	0	0
TBX20	57057	broad.mit.edu	37	7	35242171	35242171	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:35242171G>A	uc011kas.2	-	7	1695	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	405						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCCCTTGCATGGAGCTGGCAA	0.552000														45			11		0	0	0.008291	0	0
NOC4L	79050	broad.mit.edu	37	12	132636693	132636693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:132636693C>T	uc001ujz.1	+	13	1423	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	461					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CAGGCCCTGTCCATGCCTGAG	0.682000														18			11		0	0	0.002450	0	0
SLIT1	6585	broad.mit.edu	37	10	98802661	98802662	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:98802661_98802662CC>TT	uc001kmw.2	-	19	2412_2413	c.2160_2161GG>AA	c.(2158-2163)gaggaa>gaAAaa	p.E721K	SLIT1_uc009xvh.1_Missense_Mutation_p.E731K	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	721	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GAGTTACCTTCCTCACACCTGA	0.644000														20			21		0	0	0.004672	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886084	70886084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:70886084C>T	uc003tvy.3	+	4	955	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	WBSCR17_uc003tvz.3_Missense_Mutation_p.P18S	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	319	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L318L(1)		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)				CCCTTCTCTCCCCATCAGGTC	0.612000														20			15		0	0	0.004007	0	0
COL11A1	1301	broad.mit.edu	37	1	103471818	103471818	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:103471818C>T	uc001dum.3	-	16	2091	c.1773_splice	c.e16+1	p.R591_splice	COL11A1_uc001duk.3_Splice_Site|COL11A1_uc001dul.3_Splice_Site_p.R579_splice|COL11A1_uc001dun.3_Splice_Site_p.R540_splice|COL11A1_uc009weh.3_Splice_Site_p.R463_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	579	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAAGCCATACCCTTTTTCCAG	0.353000														67			25		0	0	0.010818	0	0
C12orf71	728858	broad.mit.edu	37	12	27235198	27235198	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:27235198T>G	uc001rhq.3	-	0	258	c.219A>C	c.(217-219)caA>caC	p.Q73H		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	73										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAATTTGGTCTTGTCTCTTCA	0.517000														24			16		0	0	0.004007	0	0
ZMYM4	9202	broad.mit.edu	37	1	35851684	35851684	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:35851684T>C	uc001byt.3	+	10	1810	c.1730T>C	c.(1729-1731)gTt>gCt	p.V577A	ZMYM4_uc009vuu.3_Missense_Mutation_p.V545A|ZMYM4_uc001byu.3_Missense_Mutation_p.V253A|ZMYM4_uc009vuv.3_Missense_Mutation_p.V316A	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	577					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTGTACAAGTTCAGTGTAAC	0.338000														65			38		0	0	0.006230	0	0
KLK6	5653	broad.mit.edu	37	19	51465128	51465128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51465128G>A	uc002puh.3	-	3	546	c.481C>T	c.(481-483)Cct>Tct	p.P161S	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.P152S|KLK6_uc002puj.3_Missense_Mutation_p.P45S|KLK6_uc010ycn.2_Missense_Mutation_p.P45S|KLK6_uc002pul.3_Missense_Mutation_p.P152S|KLK6_uc002pum.3_Missense_Mutation_p.P45S	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	152	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)		ATGGTGTCAGGGAAATCACCT	0.587000														43			20		0	0	0.014323	0	0
SPG11	80208	broad.mit.edu	37	15	44898230	44898230	+	Silent	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:44898230A>T	uc001ztx.3	-	19	3544	c.3513T>A	c.(3511-3513)gcT>gcA	p.A1171A	SPG11_uc010ueh.2_Silent_p.A1171A|SPG11_uc010uei.2_Silent_p.A1171A	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1171					cell death	cytosol|integral to membrane|nucleus	protein binding			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)		TACCTCCTATAGCTAGTGTGT	0.373000														31			13		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9065317	9065317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9065317C>T	uc002mkp.3	-	2	22333	c.22129G>A	c.(22129-22131)Gat>Aat	p.D7377N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7379	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						CGTGGCACATCCCCAGCACCT	0.507000														23			10		0	0	0.008291	0	0
ZNF648	127665	broad.mit.edu	37	1	182026903	182026903	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:182026903G>A	uc001goz.3	-	1	451	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ZNF648_uc021pfu.1_Silent_p.F81F	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGAGTCAGAGAATTTCTCTT	0.567000														93			22		0	0	0.010504	0	0
SEMA3E	9723	broad.mit.edu	37	7	83021940	83021940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:83021940C>T	uc003uhy.2	-	13	2219	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q	SEMA3E_uc022agy.1_Missense_Mutation_p.R473Q	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	533					axon guidance	extracellular space|membrane	receptor activity	p.R533Q(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTAAGGGTCTCGAGCCAGGCA	0.498000														47			22		0	0	0.012319	0	0
WRNIP1	56897	broad.mit.edu	37	6	2770558	2770558	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:2770558A>G	uc003mtz.3	+	2	1410	c.1219A>G	c.(1219-1221)Act>Gct	p.T407A	WRNIP1_uc003mua.3_Missense_Mutation_p.T382A	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	407					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TAGCCGTCCCACTGACCCTCT	0.552000														55			33		0	0	0.013726	0	0
PLG	5340	broad.mit.edu	37	6	161137681	161137681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:161137681C>T	uc003qtm.4	+	6	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	225	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTCAGATTTCCAAACAAGAA	0.443000														22			11		0	0	0.013537	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649204	75649205	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:75649204_75649205CC>TG	uc004ecm.2	+	0	1159_1160	c.881_882CC>TG	c.(880-882)acc>aTG	p.T294M		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	294	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGATCAAGCACCTCCGTGCCCC	0.708000														6			6		0	0	0.004672	0	0
RBM14	10432	broad.mit.edu	37	11	66393997	66393997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:66393997C>T	uc001oit.3	+	2	2007	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	RBM14_uc009yri.3_3'UTR|RBM14_uc009yrh.3_3'UTR|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_3'UTR	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	623					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TCGCAGCTTTCGTTCCGCCGC	0.547000														61			36		0	0	0.004878	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011572	46011573	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46011572_46011573GG>AA	uc002zfm.3	-	0	814_815	c.793_794CC>TT	c.(793-795)ccc>TTc	p.P265F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	265	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GTGCTGGCAGGGGGAGGAGGTG	0.649000														77			35		0	0	0.004672	0	0
OR10K2	391107	broad.mit.edu	37	1	158389833	158389833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158389833G>A	uc010pii.2	-	0	824	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	275					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)					GTAGGATACTGATATTAGAGC	0.383000														97			60		0	0	0.014410	0	0
NLRP3	114548	broad.mit.edu	37	1	247587615	247587615	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247587615C>T	uc001icr.3	+	4	1008	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_uc001ics.3_Silent_p.I290I|NLRP3_uc001icu.3_Silent_p.I290I|NLRP3_uc001icw.3_Silent_p.I290I|NLRP3_uc001icv.3_Silent_p.I290I|NLRP3_uc010pyw.2_Silent_p.I288I|NLRP3_uc001ict.1_Silent_p.I288I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	290	NACHT.				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)			TCCACAAGATCGTGAGAAAAC	0.562000														93			32		0	0	0.008361	0	0
MYB	4602	broad.mit.edu	37	6	135521527	135521527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:135521527C>T	uc003qfh.3	+	12	2123	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P521S|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Missense_Mutation_p.P147S|MYB_uc003qfw.3_Missense_Mutation_p.P333S|MYB_uc010kgi.3_Missense_Mutation_p.P521S|MYB_uc003qfq.3_Missense_Mutation_p.P639S|MYB_uc010kgj.3_Missense_Mutation_p.P486S|MYB_uc003qfo.3_Missense_Mutation_p.P436S|MYB_uc003qfu.3_Missense_Mutation_p.P518S|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P626S|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P521S	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAATGGACCACCCTTACTGAA	0.443000			T	NFIB	adenoid cystic carcinoma									22			7		0	0	0.003080	0	0
RASSF5	83593	broad.mit.edu	37	1	206711522	206711522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:206711522C>T	uc001hed.3	+	1	536	c.479C>T	c.(478-480)cCa>cTa	p.P160L	RASSF5_uc001hec.1_Missense_Mutation_p.P160L|RASSF5_uc001hee.3_Missense_Mutation_p.P160L	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	160					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTGTCACCCAGAATGCCGC	0.532000														173			30		0	0	0.009535	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950843	14950843	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:14950843C>G	uc001inn.3	-	13	1728	c.1643G>C	c.(1642-1644)aGt>aCt	p.S548T	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.S201T|DCLRE1C_uc001inl.3_Missense_Mutation_p.S428T|DCLRE1C_uc001inr.3_Missense_Mutation_p.S433T|DCLRE1C_uc009xji.3_Missense_Mutation_p.S433T|DCLRE1C_uc001inm.3_Missense_Mutation_p.S428T|DCLRE1C_uc001ino.3_Missense_Mutation_p.S433T|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.S428T|DCLRE1C_uc001inq.3_Missense_Mutation_p.S428T|DCLRE1C_uc021pni.1_Missense_Mutation_p.S433T	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	548					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCAGCCTTGACTTCCTTGTTC	0.443000								Non-homologous end-joining						30			27		0	0	0.007291	0	0
TNIK	23043	broad.mit.edu	37	3	170884950	170884950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:170884950C>T	uc003fhh.2	-	9	1228	c.883G>A	c.(883-885)Gag>Aag	p.E295K	TNIK_uc003fhi.2_Missense_Mutation_p.E295K|TNIK_uc003fhj.2_Missense_Mutation_p.E295K|TNIK_uc003fhk.2_Missense_Mutation_p.E295K|TNIK_uc003fhl.2_Missense_Mutation_p.E295K|TNIK_uc003fhm.2_Missense_Mutation_p.E295K|TNIK_uc003fhn.2_Missense_Mutation_p.E295K|TNIK_uc003fho.2_Missense_Mutation_p.E295K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	295	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACCTGTCGCTCATTAGGTTGG	0.423000														15			10		0	0	0.008291	0	0
FAM47B	170062	broad.mit.edu	37	X	34961419	34961419	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:34961419G>A	uc004ddi.2	+	0	507	c.471G>A	c.(469-471)agG>agA	p.R157R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	157										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						ATCCCGAGAGGAAGCTGGAGG	0.572000														10			18		0	0	0.006122	0	0
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:79399128G>A	uc003hlb.2	+	54	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2666	Calx-beta 2.				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						CAACGATACCGAGGATGAACC	0.458000														19			7		0	0	0.001984	0	0
CC2D2A	57545	broad.mit.edu	37	4	15558949	15558949	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:15558949A>G	uc010idv.2	+	21	2893	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C	CC2D2A_uc003gnx.3_Missense_Mutation_p.Y834C|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	883					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGTGAATCCTATGTCCCTGAT	0.393000														46			15		0	0	0.004990	0	0
DNAH8	1769	broad.mit.edu	37	6	38919199	38919200	+	Nonsense_Mutation	DNP	GG	AA	AA	rs140519170		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38919199_38919200GG>AA	uc021yzh.1	+	81	12463_12464	c.12354_12355GG>AA	c.(12352-12357)tgggaa>tgAAaa	p.4118_4119WE>*K	DNAH8_uc003ooe.2_Nonsense_Mutation_p.3901_3902WE>*K|DNAH8_uc003oog.1_Nonsense_Mutation_p.350_351WE>*K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						AGAAAACTTGGGAAGAAAGTGA	0.436000														180			146		0	0	0.004672	0	0
BTN1A1	696	broad.mit.edu	37	6	26509046	26509046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:26509046C>T	uc003nif.4	+	6	1282	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	409	B30.2/SPRY.					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						CCTCACTCCTCTCCGGACCCC	0.517000														91			16		0	0	0.004990	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651197	84651197	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:84651197C>T	uc002bjz.4	+	20	3041	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	ADAMTSL3_uc010bmt.1_Silent_p.F939F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	939	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCGACGATTCCAGAAATCTC	0.498000														70			42		0	0	0.010771	0	0
NCAM1	4684	broad.mit.edu	37	11	113102975	113102975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:113102975C>T	uc021qqp.1	+	11	1768	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	NCAM1_uc001pnp.3_Missense_Mutation_p.P430S|NCAM1_uc021qqo.1_Missense_Mutation_p.P430S|NCAM1_uc001pnq.3_Missense_Mutation_p.P440S|NCAM1_uc001pnr.3_Missense_Mutation_p.P430S	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	442	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTTGCCTATCCCAGTGCCAC	0.517000														15			17		0	0	0.004007	0	0
SYVN1	84447	broad.mit.edu	37	11	64897317	64897317	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:64897317C>T	uc001odb.3	-	13	1573	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	SYVN1_uc001odc.3_Silent_p.E492E|SYVN1_uc009yqc.3_Silent_p.E441E	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	493					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCTCATGGCCCTCCAGAGCTC	0.657000														32			15		0	0	0.004990	0	0
MUSK	4593	broad.mit.edu	37	9	113444971	113444971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:113444971C>T	uc022blv.1	+	1	231	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MUSK_uc022blt.1_Missense_Mutation_p.P33S|MUSK_uc004bez.2_Missense_Mutation_p.P33S|MUSK_uc022blu.1_Missense_Mutation_p.P33S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	33	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CATCACCACTCCTCTTGAAAC	0.413000														60			47		0	0	0.014410	0	0
SP140L	93349	broad.mit.edu	37	2	231256831	231256831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:231256831G>A	uc010fxm.1	+	11	1085	c.994G>A	c.(994-996)Gat>Aat	p.D332N	SP140L_uc010fxo.1_Missense_Mutation_p.D104N	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	332	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACAGACTGAGGATGGAAAATG	0.527000														24			69		0	0	0.014410	0	0
DDX60	55601	broad.mit.edu	37	4	169189063	169189063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169189063C>T	uc003irp.3	-	20	3150	c.2858G>A	c.(2857-2859)aGa>aAa	p.R953K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	953							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCACATGTCTTTTAGAAGC	0.323000														47			22		0	0	0.010504	0	0
KIAA0240	23506	broad.mit.edu	37	6	42833145	42833145	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:42833145C>T	uc003osn.1	+	12	3352	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S	KIAA0240_uc011duw.1_Silent_p.S1067S|KIAA0240_uc003osp.1_Silent_p.S1067S	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	1067										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)			AAACTGACTCCATTTTAGAAG	0.512000														133			37		0	0	0.011902	0	0
MUC16	94025	broad.mit.edu	37	19	9085985	9085985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9085985C>T	uc002mkp.3	-	0	6034	c.5830G>A	c.(5830-5832)Gaa>Aaa	p.E1944K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1944	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						ATGACTTCTTCCACTGGAATG	0.493000														44			23		0	0	0.002780	0	0
SPEF2	79925	broad.mit.edu	37	5	35793314	35793314	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:35793314G>A	uc003jjo.3	+	31	4719	c.4608G>A	c.(4606-4608)cgG>cgA	p.R1536R	SPEF2_uc003jjp.1_Silent_p.R1022R|SPEF2_uc003jjr.3_Silent_p.R591R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1536					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGACTGGCGGAAGTTCCTGT	0.438000														49			18		0	0	0.007413	0	0
OR2A12	346525	broad.mit.edu	37	7	143793082	143793082	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143793082A>C	uc011kty.2	+	0	882	c.882A>C	c.(880-882)gcA>gcC	p.A294A		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTAGGAATGCAGAGGTGAAAG	0.458000														164			86		0	0	0.014410	0	0
TSPAN10	83882	broad.mit.edu	37	17	79609470	79609470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:79609470C>T	uc010die.3	+	0	138	c.32C>T	c.(31-33)tCc>tTc	p.S11F	TSPAN10_uc021ufc.1_Missense_Mutation_p.S49F|TSPAN10_uc002kaw.2_Missense_Mutation_p.S11F|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	11						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCTTACTGTCCCAGGTGAGC	0.642000														80			33		0	0	0.007835	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814973	54814973	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:54814973C>T	uc002lgm.3	+	0	681	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		TCATGAATTCCTGGTGGCCCA	0.507000														17			9		0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534882	96534882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:96534882G>A	uc010qnz.2	+	1	236	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G57E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	79					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	p.G79E(2)|p.G79*(1)		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)	GTGCTGCATGGATATGAAGTG	0.458000														34			27		0	0	0.004656	0	0
NUPL2	11097	broad.mit.edu	37	7	23240047	23240047	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:23240047C>G	uc003svu.3	+	6	1214	c.955C>G	c.(955-957)Ctt>Gtt	p.L319V	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_Missense_Mutation_p.L91V	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	319	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTTCAGGACTTCCAGCTTC	0.522000														87			25		0	0	0.009535	0	0
PAK7	57144	broad.mit.edu	37	20	9560815	9560815	+	Missense_Mutation	SNP	C	T	T	rs143654195		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9560815C>T	uc002wnl.2	-	4	1512	c.967G>A	c.(967-969)Gag>Aag	p.E323K	PAK7_uc002wnk.2_Missense_Mutation_p.E323K|PAK7_uc002wnj.2_Missense_Mutation_p.E323K|PAK7_uc010gby.1_Missense_Mutation_p.E323K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	323	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATTGTGGGCTCGGACAAGCGA	0.522000														181			72		0	0	0.014410	0	0
UTP20	27340	broad.mit.edu	37	12	101699781	101699781	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:101699781C>T	uc001tia.1	+	15	2026	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	624					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCCACTTTCCCAGGAGGCTTT	0.448000														80			39		0	0	0.006230	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885453	180885453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:180885453G>A	uc001gok.2	+	1	281	c.214G>A	c.(214-216)Gta>Ata	p.V72I		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	72										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCTCCCAGGGTATGGGGAGT	0.602000														43			13		0	0	0.013537	0	0
FBXL7	23194	broad.mit.edu	37	5	15936668	15936668	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:15936668C>T	uc003jfn.1	+	3	1330	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	283					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGACTGCTTCGTGCTGGAGG	0.617000														23			32		0	0	0.004289	0	0
RARRES2	5919	broad.mit.edu	37	7	150036168	150036168	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150036168C>T	uc003wha.3	-	3	399	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	94					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ATTTCCGTTTCCTCTGTGGGG	0.607000														55			35		0	0	0.013726	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691241	18691241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:18691241G>A	uc001rdt.3	+	23	3468	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1159K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E937K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1118	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAACCTGCTGGAAATGGTAAG	0.393000														48			24		0	0	0.005443	0	0
LRFN1	57622	broad.mit.edu	37	19	39798745	39798745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:39798745G>A	uc002okw.2	-	1	1844	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	615						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCGGGGGCAGCCTGGGACTC	0.746000														18			4		0	0	0.001168	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918319	154918319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:154918319G>A	uc001ffr.3	-	9	1890	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_uc001ffs.3_Missense_Mutation_p.R582W|PBXIP1_uc010pep.2_Missense_Mutation_p.R456W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	611					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTGTTGCCGCACTGGGGCT	0.627000														98			27		0	0	0.006320	0	0
NRP1	8829	broad.mit.edu	37	10	33515180	33515181	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:33515180_33515181CC>TT	uc001iwx.4	-	6	1541_1542	c.1018_1019GG>AA	c.(1018-1020)ggg>AAg	p.G340K	NRP1_uc001iwv.4_Missense_Mutation_p.G340K|NRP1_uc001iwy.4_Missense_Mutation_p.G340K|NRP1_uc009xlz.3_Missense_Mutation_p.G340K|NRP1_uc001iww.4_Missense_Mutation_p.G159K|NRP1_uc001iwz.2_Missense_Mutation_p.G340K|NRP1_uc001ixa.2_Missense_Mutation_p.G340K|NRP1_uc001ixb.2_Missense_Mutation_p.G340K|NRP1_uc001ixc.1_Missense_Mutation_p.G340K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	340	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCCCTGTGTCCCGACAGCCGTG	0.485000														25			16		0	0	0.004672	0	0
PGK2	5232	broad.mit.edu	37	6	49753680	49753680	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:49753680G>A	uc003ozu.3	-	0	1374	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	407					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)					CTCCAGGAAGGATTTTACCTT	0.458000														67			35		0	0	0.003271	0	0
RPTN	126638	broad.mit.edu	37	1	152129231	152129231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152129231C>T	uc001ezs.1	-	2	409	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	115	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTGTGTTTCCTGGGAACTT	0.527000														210			137		0	0	0.014410	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815501	106815501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:106815501C>T	uc003ymd.3	+	7	3214	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S795F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1064					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACATTTCCCAGAATCCT	0.483000														18			7		0	0	0.001984	0	0
C8B	732	broad.mit.edu	37	1	57395135	57395135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:57395135G>A	uc001cyp.3	-	11	1785	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	C8B_uc010oon.2_Missense_Mutation_p.P511L|C8B_uc010ooo.2_Missense_Mutation_p.P521L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	573	TSP type-1 2.				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						CCCATTTTGAGGAGGTGGATT	0.488000														44			21		0	0	0.012319	0	0
WNT2	7472	broad.mit.edu	37	7	116937682	116937682	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:116937682G>A	uc003viz.3	-	3	1137	c.837C>T	c.(835-837)atC>atT	p.I279I	WNT2_uc003vja.3_Silent_p.I183I	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	279					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTCGGTCCCTGATACAGTAGT	0.393000														55			29		0	0	0.008361	0	0
AOX1	316	broad.mit.edu	37	2	201468806	201468806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:201468806C>T	uc002uvx.3	+	7	756	c.655C>T	c.(655-657)Cct>Tct	p.P219S		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	219					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)	ACTGATATTTCCTCCTGAGCT	0.393000														17			27		0	0	0.005443	0	0
TAF3	83860	broad.mit.edu	37	10	8007463	8007463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:8007463C>T	uc010qbd.2	+	2	1990	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	664	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GTTGGCCCTGCCCTTGTTCAG	0.507000														32			26		0	0	0.008361	0	0
FREM2	341640	broad.mit.edu	37	13	39262895	39262895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:39262895G>A	uc001uwv.3	+	0	1723	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	472					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)		GGTCATCAGCGATGAGGATGA	0.592000														23			20		0	0	0.012319	0	0
C1orf173	127254	broad.mit.edu	37	1	75107095	75107095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:75107095G>A	uc001dgg.3	-	4	583	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	122										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGTGGGTGGGGAGACAGGATT	0.418000														42			20		0	0	0.008871	0	0
OR51B4	79339	broad.mit.edu	37	11	5322301	5322301	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5322301C>T	uc010qza.2	-	0	876	c.876G>A	c.(874-876)aaG>aaA	p.K292K	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.	292					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)		TCTGCTTGGTCTTGATGCTAT	0.433000														51			11		0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152712529	152712529	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152712529C>T	uc021zhb.1	-	49	8110	c.7887G>A	c.(7885-7887)ctG>ctA	p.L2629L	SYNE1_uc003qot.4_Silent_p.L2636L|SYNE1_uc003qou.4_Silent_p.L2629L|SYNE1_uc010kjb.1_Silent_p.L2612L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2629					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)		GTGCTTCCTCCAGGGCTTCGT	0.562000										HNSCC(10;0.0054)				32			21		0	0	0.010504	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390289	61390289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:61390289G>A	uc002ljk.4	+	8	1003	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SERPINB11_uc010xes.2_Missense_Mutation_p.E104K|SERPINB11_uc010dqd.3_Missense_Mutation_p.E165K|SERPINB11_uc002ljj.4_Missense_Mutation_p.E165K|SERPINB11_uc010dqe.3_Missense_Mutation_p.E78K|SERPINB11_uc010dqf.3_Missense_Mutation_p.E77K	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	279					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAACATGATGGAAAGAGAAGT	0.418000														10			3		0	0	0.009096	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2979713	2979713	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2979713G>A	uc002csd.3	+	2	390	c.27G>A	c.(25-27)caG>caA	p.Q9Q	FLYWCH1_uc002csb.3_Silent_p.Q9Q|FLYWCH1_uc002csc.3_Silent_p.Q9Q	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	9						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCAGCGAGCAGGAGGGCGAGA	0.692000														11			6		0	0	0.003080	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121991770	121991770	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:121991770C>T	uc002tmx.3	-	12	1188	c.1095_splice	c.e12-1	p.R365_splice	TFCP2L1_uc010flr.3_Splice_Site_p.R365_splice|TFCP2L1_uc010flq.3_Splice_Site	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	365					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCCTCACATTCCTGGCAGGAG	0.507000														16			45		0	0	0.011902	0	0
P2RY8	286530	broad.mit.edu	37	X	1585282	1585282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:1585282G>A	uc022brv.1	-	0	170	c.170C>T	c.(169-171)cCg>cTg	p.P57L	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.P57L	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	57						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GATGACCGACGGGGATCTGGG	0.622000			T	CRLF2	"""B-ALL, Downs associated ALL"""									37			24		0	0	0.003330	0	0
SLC36A2	153201	broad.mit.edu	37	5	150718687	150718687	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:150718687G>A	uc003lty.3	-	4	589	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SLC36A2_uc003ltz.3_Intron|SLC36A2_uc003lua.3_Intron|SLC36A2_uc010jhv.2_Silent_p.F153F|SLC36A2_uc011dct.1_Silent_p.F153F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	153					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATAATAAGGAAGAAGCTCA	0.403000														35			32		0	0	0.003271	0	0
CFHR5	81494	broad.mit.edu	37	1	196953238	196953238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196953238G>A	uc001gts.4	+	2	529	c.401G>A	c.(400-402)tGg>tAg	p.W134*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	134	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GAACGGGGCTGGTCCACTCCT	0.353000														75			8		0	0	0.004482	0	0
NPY5R	4889	broad.mit.edu	37	4	164272412	164272412	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:164272412C>T	uc003iqn.3	+	3	1169	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NPY5R_uc021xtw.1_Silent_p.F329F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	329					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CCAGTAAGTTCATACCAGGGG	0.393000														37			18		0	0	0.010504	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20295729G>A	uc010tkv.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000														264			70		0	0	0.014410	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281594	103281594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:103281594G>A	uc002tca.3	+	2	931	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	263						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGCCAGATGAAAACCATTG	0.463000														53			84		0	0	0.014410	0	0
FTCD	10841	broad.mit.edu	37	21	47566215	47566215	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:47566215G>A	uc002zig.3	-	7	977	c.933C>T	c.(931-933)tcC>tcT	p.S311S	FTCD_uc002zif.3_Silent_p.S311S|FTCD_uc002zih.3_Silent_p.S311S|FTCD_uc010gqf.3_Silent_p.S311S|FTCD_uc010gqg.1_Silent_p.S180S			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	311	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGGGGCACAGGGAGTCCAGGC	0.687000														10			6		0	0	0.001984	0	0
POU6F2	11281	broad.mit.edu	37	7	39379268	39379268	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39379268A>C	uc003thb.2	+	5	682	c.539A>C	c.(538-540)cAg>cCg	p.Q180P	POU6F2_uc022acb.1_Missense_Mutation_p.Q180P|POU6F2_uc010kxo.3_Missense_Mutation_p.Q172P	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	180	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCCAGCTCcagcagctccag	0.602000														36			9		0	0	0.008291	0	0
FGL2	10875	broad.mit.edu	37	7	76826196	76826196	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:76826196A>C	uc003ugb.3	-	1	760	c.720T>G	c.(718-720)gtT>gtG	p.V240V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	240	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGTCACAGTAAACTTCAAAGC	0.463000														82			48		0	0	0.014410	0	0
FAM83B	222584	broad.mit.edu	37	6	54805432	54805432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:54805432G>A	uc003pck.3	+	4	1779	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	555										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)					TGAGCAAAAGGAAGTTAACAG	0.428000														32			14		0	0	0.003163	0	0
SP140	11262	broad.mit.edu	37	2	231103041	231103041	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:231103041G>A	uc002vql.3	+	2	466	c.351G>A	c.(349-351)agG>agA	p.R117R	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Silent_p.R117R|SP140_uc002vqk.2_Silent_p.R117R|SP140_uc002vqn.3_Silent_p.R117R|SP140_uc002vqm.3_Silent_p.R117R|SP140_uc010fxl.3_Silent_p.R117R	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	117	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		TGTTCAGCAGGATTAACCTGA	0.433000														19			39		0	0	0.006999	0	0
RGPD4	285190	broad.mit.edu	37	2	108488331	108488331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:108488331G>A	uc010ywk.2	+	19	3953	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R	RGPD4_uc002tdu.3_Missense_Mutation_p.G478R|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1291					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTCAACAACAGGATCTAACTT	0.413000														117			237		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38941523	38941523	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38941523G>A	uc021wvy.1	-	12	2083	c.1884C>T	c.(1882-1884)atC>atT	p.I628I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	628					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)	CGAGCGCAATGATTTTTAGGC	0.408000														13			8		0	0	0.004482	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643803	121643803	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:121643803C>T	uc003eep.2	+	12	1200	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	SLC15A2_uc011bjn.1_Silent_p.P318P	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	349					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCTAAATCCCCTTCTGGTTC	0.388000														62			51		0	0	0.014410	0	0
UBR1	197131	broad.mit.edu	37	15	43360109	43360109	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:43360109G>C	uc001zqq.3	-	5	851	c.785C>G	c.(784-786)gCc>gGc	p.A262G	UBR1_uc010udk.1_Missense_Mutation_p.A262G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	262					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTGTCAATGGCAGTGGTATG	0.468000														49			27		0	0	0.005443	0	0
LBP	3929	broad.mit.edu	37	20	36997662	36997662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:36997662G>A	uc002xic.1	+	9	1040	c.1005G>A	c.(1003-1005)atG>atA	p.M335I		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	335					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACCCCAACATGAACCTGGAAC	0.507000														66			38		0	0	0.004878	0	0
GRK7	131890	broad.mit.edu	37	3	141499223	141499223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:141499223C>T	uc011bnd.2	+	1	704	c.620C>T	c.(619-621)gCc>gTc	p.A207V		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	207	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGGTATGTGCCGTCCAGGTG	0.458000														8			11		0	0	0.010729	0	0
CFHR1	3078	broad.mit.edu	37	1	196794623	196794623	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196794623T>C	uc001gtn.3	+	1	189	c.75T>C	c.(73-75)ttT>ttC	p.F25F	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	25	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TTTGTGATTTTCCAAAAATAA	0.269000														47			6		0	0	0.003080	0	0
ZNF750	79755	broad.mit.edu	37	17	80788365	80788365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:80788365C>T	uc002kga.3	-	2	2136	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	609						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGGTGGGGCCCCGTCACCG	0.677000														28			25		0	0	0.005443	0	0
MTFR1	9650	broad.mit.edu	37	8	66594616	66594616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:66594616C>T	uc011lep.2	+	2	307	c.95C>T	c.(94-96)tCg>tTg	p.S32L	MTFR1_uc003xvm.2_Missense_Mutation_p.S32L|MTFR1_uc003xvn.2_Intron	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	32						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CCATATGGTTCGTCTCGAAGT	0.333000														36			13		0	0	0.004990	0	0
COL23A1	91522	broad.mit.edu	37	5	177676175	177676175	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:177676175C>T	uc021yiz.1	-	18	1450	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E	COL23A1_uc021yiy.1_Silent_p.E140E|COL23A1_uc010jkt.2_Silent_p.E246E	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	364	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTGGCCCAGGCTCTCCTGGGT	0.627000														252			85		0	0	0.014410	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:14880876C>T	uc003ssz.3	-	0	200	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_uc011jxt.2_Missense_Mutation_p.E5K|DGKB_uc003sta.3_Missense_Mutation_p.E5K|DGKB_uc011jxu.2_Missense_Mutation_p.E5K|DGKB_uc011jxv.1_Missense_Mutation_p.E5K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	5					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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000														25			27		0	0	0.009535	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150141	117150141	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117150141C>T	uc003pxj.1	-	0	58	c.36G>A	c.(34-36)gtG>gtA	p.V12V	GPRC6A_uc003pxk.1_Silent_p.V12V|GPRC6A_uc003pxl.1_Silent_p.V12V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	12					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAGAATAATCACAAAGCAGG	0.418000														29			9		0	0	0.004482	0	0
RFT1	91869	broad.mit.edu	37	3	53159945	53159945	+	Silent	SNP	G	A	A	rs148510042		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:53159945G>A	uc003dgj.3	-	1	183	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	43					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.I43I(2)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTACGCCAACGATTTCCTTTG	0.408000														30			13		0	0	0.013537	0	0
TPD52	7163	broad.mit.edu	37	8	80992579	80992579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:80992579G>A	uc022awn.1	-	0	432	c.110C>T	c.(109-111)cCa>cTa	p.P37L	TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Intron|TPD52_uc003ybs.1_Intron|TPD52_uc003ybt.1_Intron|TPD52_uc003ybr.1_Missense_Mutation_p.P37L|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Missense_Mutation_p.P37L|TPD52_uc022awp.1_Missense_Mutation_p.P37L	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	37					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)			TGATCCGGGTGGAGATGAATT	0.403000														28			25		0	0	0.006320	0	0
SNTG2	54221	broad.mit.edu	37	2	1133456	1133456	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:1133456T>C	uc002qwq.3	+	5	501	c.372T>C	c.(370-372)gtT>gtC	p.V124V	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	124	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)		CTGTTCAGGTTAATGGCATAC	0.269000														31			46		0	0	0.014410	0	0
TAF15	8148	broad.mit.edu	37	17	34144726	34144726	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:34144726G>T	uc002hkd.3	+	1	100	c.14G>T	c.(13-15)gGa>gTa	p.G5V	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.G5V	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	5	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTAGATTCTGGAAGTTACGGT	0.333000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									41			20		1.56452e-12	1.64538e-12	0.007413	1	0
SEC14L2	23541	broad.mit.edu	37	22	30812060	30812060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:30812060C>T	uc003ahr.3	+	9	1071	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SEC14L2_uc003ahq.3_Missense_Mutation_p.P299S|SEC14L2_uc011aky.2_Missense_Mutation_p.P216S|SEC14L2_uc011akx.2_Missense_Mutation_p.P245S|SEC14L2_uc003ahs.3_Missense_Mutation_p.P225S|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.3_Intron|SEC14L2_uc003ahv.1_Missense_Mutation_p.P123S|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	299	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GATCCTCTTCCCTGGCTGTGT	0.557000														89			34		0	0	0.006999	0	0
XKR6	286046	broad.mit.edu	37	8	10756149	10756149	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10756149C>T	uc003wtk.1	-	2	1266	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	413						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCCTCCCACTTGGACA	0.488000														25			14		0	0	0.002450	0	0
CRIM1	51232	broad.mit.edu	37	2	36749303	36749303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:36749303G>A	uc002rpd.3	+	12	2341	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	759	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGATGAAGGGGATATATTCCT	0.448000														36			72		0	0	0.014410	0	0
ENAM	10117	broad.mit.edu	37	4	71508455	71508455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:71508455G>A	uc011caw.1	+	8	1593	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	438					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATCCAAAGGAGAAGCCCCT	0.443000														33			17		0	0	0.004990	0	0
VAMP8	8673	broad.mit.edu	37	2	85808710	85808710	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:85808710C>G	uc002spt.4	+	2	330	c.174C>G	c.(172-174)ttC>ttG	p.F58L	VAMP5_uc002spu.1_5'Flank	NM_003761	NP_003752	Q9BV40	VAMP8_HUMAN	Homo sapiens vesicle-associated membrane protein 8 (endobrevin) (VAMP8), mRNA.	58	v-SNARE coiled-coil homology.				post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane				breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						CTGAGCACTTCAAGACGACAT	0.473000														96			6		0	0	0.001168	0	0
GNB2	2783	broad.mit.edu	37	7	100275174	100275174	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100275174C>T	uc003uwb.3	+	5	594	c.321C>T	c.(319-321)ccC>ccT	p.P107P	GNB2_uc003uwf.3_Silent_p.P7P	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	107					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCTACGCGCCCTCAGGGAACT	0.667000														71			45		0	0	0.013114	0	0
GABRA6	2559	broad.mit.edu	37	5	161119131	161119131	+	Silent	SNP	G	A	A	rs144044129		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:161119131G>A	uc003lyu.2	+	7	1349	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	GABRA6_uc003lyv.2_Silent_p.R108R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	337					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.R337R(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGCCAAAAGGAAGGCACAGT	0.418000										TCGA Ovarian(5;0.080)				18			24		0	0	0.003330	0	0
APOB	338	broad.mit.edu	37	2	21230801	21230801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21230801G>A	uc002red.3	-	25	9067	c.8939C>T	c.(8938-8940)tCc>tTc	p.S2980F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2980					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)	AAAGTTGAGGGAGCCAGATTC	0.428000														192			392		0	0	0.014410	0	0
COL21A1	81578	broad.mit.edu	37	6	55922538	55922538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:55922538C>T	uc003pcs.3	-	29	3023	c.2791G>A	c.(2791-2793)Ggc>Agc	p.G931S	COL21A1_uc010jzz.3_Missense_Mutation_p.G316S|COL21A1_uc011dxg.2_Missense_Mutation_p.G304S|COL21A1_uc011dxh.2_Missense_Mutation_p.G282S|COL21A1_uc003pcr.3_Missense_Mutation_p.G288S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	931					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGGGGGCCTGGTTGCCCT	0.512000														18			13		0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152284451	152284451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152284451G>A	uc001ezu.1	-	2	2947	c.2911C>T	c.(2911-2913)Cgt>Tgt	p.R971C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	971	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R971C(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)			GCAGATCCACGATGGTTTCTG	0.577000									Ichthyosis					311			189		0	0	0.014410	0	0
EPHA7	2045	broad.mit.edu	37	6	94124437	94124437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:94124437G>A	uc003poe.3	-	1	387	c.146C>T	c.(145-147)tCc>tTc	p.S49F	EPHA7_uc003pof.3_Missense_Mutation_p.S49F|EPHA7_uc011eac.2_Missense_Mutation_p.S49F|EPHA7_uc003pog.4_Missense_Mutation_p.S49F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	49						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGTGGAGAGGAAATCCACTC	0.353000														50			23		0	0	0.004656	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353667	47353667	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:47353667T>C	uc021qis.1	-	32	3825	c.3770A>G	c.(3769-3771)aAc>aGc	p.N1257S	MYBPC3_uc021qir.1_Missense_Mutation_p.N909S	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	1256	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCCCTGTAAGTTGGTGGCCCT	0.652000														37			13		0	0	0.013537	0	0
MDN1	23195	broad.mit.edu	37	6	90468564	90468564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:90468564G>A	uc003pnn.1	-	17	2692	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F	MDN1_uc003pno.1_Missense_Mutation_p.S277F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	859					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAACACCAGGGATCCAGAAGA	0.458000														38			23		0	0	0.003330	0	0
ZNF830	91603	broad.mit.edu	37	17	33289169	33289169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33289169C>T	uc002hih.4	+	0	621	c.584C>T	c.(583-585)tCc>tTc	p.S195F	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	195					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CACTCAGTTTCCTCTTCACGG	0.522000														18			14		0	0	0.001855	0	0
MAP6	4135	broad.mit.edu	37	11	75319354	75319354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:75319354C>T	uc001owu.3	-	1	984	c.919G>A	c.(919-921)Gca>Aca	p.A307T	MAP6_uc001owv.3_Missense_Mutation_p.A307T	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	307	Calmodulin-binding (By similarity).|Mn 3.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCCGTCCATGCCCTGAATTCA	0.483000														46			16		0	0	0.008871	0	0
ABP1	26	broad.mit.edu	37	7	150553894	150553894	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150553894C>T	uc003why.1	+	2	4554	c.336C>T	c.(334-336)acC>acT	p.T112T	ABP1_uc003whz.1_Silent_p.T112T|ABP1_uc003wia.1_Silent_p.T112T	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	112					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCAATGTCACCGAGTTTGCTG	0.602000														75			23		0	0	0.014323	0	0
DUSP27	92235	broad.mit.edu	37	1	167096589	167096589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:167096589G>A	uc001geb.1	+	4	2237	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	741					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGCAAAATGAAATGCTGCT	0.537000														62			34		0	0	0.006230	0	0
RBBP6	5930	broad.mit.edu	37	16	24573272	24573272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:24573272C>T	uc002dmh.3	+	9	2119	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	RBBP6_uc010vcb.1_Missense_Mutation_p.S227F|RBBP6_uc002dmi.3_Missense_Mutation_p.S360F|RBBP6_uc010bxr.3_Missense_Mutation_p.S360F|RBBP6_uc002dmk.3_Missense_Mutation_p.S227F	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	360					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTGATGAGATCTCCGATATCA	0.443000														66			23		0	0	0.012319	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581172	24581172	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:24581172T>G	uc011djo.2	-	6	1761	c.1261A>C	c.(1261-1263)Aat>Cat	p.N421H	KIAA0319_uc011djp.2_Missense_Mutation_p.N376H|KIAA0319_uc003neh.1_Missense_Mutation_p.N421H|KIAA0319_uc011djq.1_Missense_Mutation_p.N412H|KIAA0319_uc011djr.1_Missense_Mutation_p.N421H|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	421	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACAGTGACATTGACAAATCCT	0.393000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		200			55		0	0	0.014410	0	0
CABIN1	23523	broad.mit.edu	37	22	24439440	24439440	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:24439440C>T	uc002zzi.1	+	5	547	c.420C>T	c.(418-420)atC>atT	p.I140I	CABIN1_uc021wnc.1_Silent_p.I140I|CABIN1_uc002zzj.1_Silent_p.I140I|CABIN1_uc002zzl.2_Silent_p.I140I|CABIN1_uc010guk.1_Silent_p.I95I|CABIN1_uc002zzk.2_Silent_p.I95I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	140					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			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						TCATCCGGATCCCCCTGGCTC	0.547000														57			27		0	0	0.005443	0	0
LILRB3	11025	broad.mit.edu	37	19	54802566	54802566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54802566C>T	uc002qfd.3	-	4	967	c.875G>A	c.(874-876)gGg>gAg	p.G292E	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.G228E	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	291	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTACTGGCCCCCGTAGGAGCG	0.682000														63			17		0	0	0.010504	0	0
MLL2	8085	broad.mit.edu	37	12	49445153	49445153	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:49445153G>A	uc001rta.4	-	9	2313	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	771	Pro-rich.			Missing (in Ref. 1; AAC51734).	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						CAGGCTGGGGGGACAGGTGTG	0.682000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				25			14		0	0	0.004007	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47582349	47582349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47582349G>A	uc001cqu.1	+	10	1297	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	432						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATTCTCCAGGGAAAATTCTGA	0.408000														26			14		0	0	0.004990	0	0
S100A7A	338324	broad.mit.edu	37	1	153391683	153391683	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:153391683G>A	uc001fbt.1	+	2	261	c.204G>A	c.(202-204)aaG>aaA	p.K68K		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	68	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGAGGATAAGAAGATTGATT	0.443000														95			21		0	0	0.014323	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119866561G>A	uc001txe.3	+	1	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	55										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)		GACCTTATACGAAGCCGGTGA	0.478000														19			7		0	0	0.001984	0	0
FLG2	388698	broad.mit.edu	37	1	152329887	152329887	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152329887A>G	uc001ezw.4	-	2	448	c.375T>C	c.(373-375)caT>caC	p.H125H	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	125							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACCTGATTTATGTCCTGGTG	0.458000														240			53		0	0	0.014410	0	0
ANKIB1	54467	broad.mit.edu	37	7	91936786	91936786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:91936786C>T	uc003ulw.2	+	2	678	c.302C>T	c.(301-303)cCt>cTt	p.P101L		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	101							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCCTTCATCCTCGCTTGGCA	0.418000														78			34		0	0	0.003271	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060247	35060247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:35060247G>A	uc002xff.3	+	2	562	c.127G>A	c.(127-129)Gag>Aag	p.E43K	DLGAP4_uc010zvp.2_Missense_Mutation_p.E43K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	43					cell-cell signaling	membrane	protein binding	p.E43K(2)|p.R42C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCGCCCGCGAGGCCCGCTT	0.687000														26			16		0	0	0.004990	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824331	70824331	+	Silent	SNP	C	T	T	rs140967177	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:70824331C>T	uc001svx.3	+	2	984	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	177					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCCTCTGGCCCCTGGTGACAT	0.512000														106			58		0	0	0.014410	0	0
PCK2	5106	broad.mit.edu	37	14	24569335	24569335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:24569335G>A	uc001wlt.3	+	6	1279	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.D383N|PCK2_uc010tnw.2_Missense_Mutation_p.D249N|PCK2_uc010ald.2_3'UTR|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.2_Missense_Mutation_p.D249N|PCK2_uc001wlu.4_Missense_Mutation_p.D249N	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGAGACCAGTGATGGTGGCGT	0.552000														38			21		0	0	0.014323	0	0
MYO18B	84700	broad.mit.edu	37	22	26231385	26231385	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:26231385C>T	uc003abz.1	+	16	3433	c.3183C>T	c.(3181-3183)ttC>ttT	p.F1061F	MYO18B_uc003aca.1_Silent_p.F942F|MYO18B_uc010guy.1_Silent_p.F943F|MYO18B_uc010guz.1_Silent_p.F942F|MYO18B_uc011aka.1_Silent_p.F215F|MYO18B_uc011akb.1_Silent_p.F574F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1061	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.A1061D(1)		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						GTGCTGCTTTCGAGAAGAAAG	0.567000														77			43		0	0	0.013114	0	0
C10orf76	79591	broad.mit.edu	37	10	103789475	103789475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:103789475G>A	uc009xwy.1	-	4	436	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	C10orf76_uc001kui.3_Missense_Mutation_p.H112Y	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	112						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTCTTTTGATGGACTCCTCGA	0.478000														24			24		0	0	0.003954	0	0
CACNA1F	778	broad.mit.edu	37	X	49081361	49081361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:49081361G>A	uc004dnb.3	-	13	1834	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	CACNA1F_uc010nip.3_Missense_Mutation_p.S580F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	591					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTTGAAGAAGGAAGACACATA	0.552000														1			3		0	0	0.009096	0	0
TMC4	147798	broad.mit.edu	37	19	54676765	54676765	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54676765C>T	uc010erf.3	-	0	180	c.48G>A	c.(46-48)agG>agA	p.R16R	TMC4_uc002qdo.3_Silent_p.R16R	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	16						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGCCACCCCCTAGAGGAGC	0.632000														104			37		0	0	0.014410	0	0
ITGA2	3673	broad.mit.edu	37	5	52379186	52379186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:52379186C>T	uc003joy.3	+	26	3304	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S978F|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1054					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGAACTGCTTCCTGTAGTAAT	0.343000														40			17		0	0	0.004007	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756405	94756405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94756405C>T	uc001yct.3	-	1	992	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SERPINA10_uc001ycu.4_Missense_Mutation_p.E176K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	176					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGAAAGTCTCTTTGACATCA	0.453000														43			27		0	0	0.006320	0	0
ABCA13	154664	broad.mit.edu	37	7	48559685	48559685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:48559685C>T	uc003toq.2	+	52	13870	c.13846C>T	c.(13846-13848)Cct>Tct	p.P4616S	ABCA13_uc010kys.1_Missense_Mutation_p.P1691S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.P346S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4616					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACTATTTTTCCTCAATTCTG	0.368000														23			43		0	0	0.011902	0	0
BTAF1	9044	broad.mit.edu	37	10	93773459	93773459	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:93773459C>T	uc001khr.3	+	30	4445	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1449	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATTTGATTTCCTCATGCCAG	0.403000														26			22		0	0	0.014323	0	0
KIAA0494	9813	broad.mit.edu	37	1	47182005	47182005	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47182005T>C	uc001cqk.4	-	1	1273	c.296A>G	c.(295-297)aAg>aGg	p.K99R	KIAA0494_uc010omh.1_Missense_Mutation_p.K99R	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	99							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CAGATCCTCCTTGAGAGCAAC	0.423000														51			4		0	0	0.009096	0	0
GLG1	2734	broad.mit.edu	37	16	74493682	74493682	+	Silent	SNP	G	A	A	rs139538436		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:74493682G>A	uc002fcx.3	-	22	3092	c.3042C>T	c.(3040-3042)tcC>tcT	p.S1014S	GLG1_uc002fcw.4_Silent_p.S1003S|GLG1_uc002fcy.4_Silent_p.S1014S|GLG1_uc002fcz.4_Silent_p.S431S	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	1014						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACATAGACTGGAGATCTGTT	0.423000														17			10		0	0	0.010729	0	0
F2RL1	2150	broad.mit.edu	37	5	76129575	76129575	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:76129575G>A	uc003keo.3	+	1	1318	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	381					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)		AACACTCCAGGAAATCCAGCT	0.463000														144			111		0	0	0.014410	0	0
SLIT2	9353	broad.mit.edu	37	4	20611778	20611778	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:20611778C>G	uc003gpr.1	+	33	4039	c.3835C>G	c.(3835-3837)Ctc>Gtc	p.L1279V	SLIT2_uc003gps.1_Missense_Mutation_p.L1271V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1279	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.L1279I(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGACTCTCCACTCTATGTAGG	0.428000														33			14		0	0	0.004007	0	0
PAK7	57144	broad.mit.edu	37	20	9624959	9624959	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:9624959C>T	uc002wnl.2	-	3	563	c.18G>A	c.(16-18)aaG>aaA	p.K6K	PAK7_uc002wnk.2_Silent_p.K6K|PAK7_uc002wnj.2_Silent_p.K6K|PAK7_uc010gby.1_Silent_p.K6K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	6							ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAATCTTTTTCTTTTTCTTCC	0.438000														35			10		0	0	0.001855	0	0
OR2J3	442186	broad.mit.edu	37	6	29079884	29079884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29079884G>A	uc011dll.2	+	0	217	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCATTTCTGGATCTCTGCTA	0.463000														172			69		0	0	0.014410	0	0
FLT1	2321	broad.mit.edu	37	13	29001438	29001438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:29001438C>T	uc001usb.3	-	9	1579	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	FLT1_uc010aar.1_Missense_Mutation_p.E432K|FLT1_uc001usc.3_Missense_Mutation_p.E432K|FLT1_uc010tdp.1_Missense_Mutation_p.E432K|HV303168_uc021rhp.1_5'Flank	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.	432	Ig-like C2-type 5.				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			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)	ACGGCCTTTTCGTAAATCTGG	0.493000														12			12		0	0	0.013537	0	0
SCN5A	6331	broad.mit.edu	37	3	38627507	38627507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38627507G>A	uc021wvo.1	-	14	2514	c.2462C>T	c.(2461-2463)tCa>tTa	p.S821L	SCN5A_uc021wvk.1_Missense_Mutation_p.S821L|SCN5A_uc021wvl.1_Missense_Mutation_p.S821L|SCN5A_uc021wvm.1_Missense_Mutation_p.S821L|SCN5A_uc021wvn.1_Missense_Mutation_p.S821L|SCN5A_uc021wvp.1_Missense_Mutation_p.S821L|SCN5A_uc021wvq.1_Missense_Mutation_p.S821L|SCN5A_uc021wvr.1_Missense_Mutation_p.S821L|SCN5A_uc021wvs.1_Missense_Mutation_p.S821L|SCN5A_uc021wvt.1_Missense_Mutation_p.S821L|SCN5A_uc021wvu.1_Missense_Mutation_p.S821L|SCN5A_uc021wvv.1_Missense_Mutation_p.S821L|SCN5A_uc021wvj.1_Missense_Mutation_p.S687L|SCN5A_uc021wvi.1_Missense_Mutation_p.S687L|SCN5A_uc021wvw.1_Missense_Mutation_p.S432L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	821					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)	GGTGGGCCATGATTTGGCCAG	0.582000														28			15		0	0	0.003163	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001293	13001293	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:13001293C>T	uc001auq.2	-	2	476	c.390G>A	c.(388-390)agG>agA	p.R130R	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	130										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		GTGTTTTGTTCCTCTTGGCAT	0.498000														688			105		0	0	0.014410	0	0
DCAF5	8816	broad.mit.edu	37	14	69521511	69521511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:69521511G>A	uc001xkp.3	-	8	2111	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	DCAF5_uc001xkq.3_Missense_Mutation_p.S630L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	631						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTCAGGGGACGAGGTTGGGGA	0.493000														73			40		0	0	0.008740	0	0
PRKCG	5582	broad.mit.edu	37	19	54394975	54394975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54394975G>A	uc002qcq.1	+	5	859	c.577G>A	c.(577-579)Gat>Aat	p.D193N	PRKCG_uc010eqz.1_Missense_Mutation_p.D193N|PRKCG_uc010yef.1_Missense_Mutation_p.D193N|PRKCG_uc010yeg.1_Missense_Mutation_p.D193N|PRKCG_uc010yeh.1_Missense_Mutation_p.D80N|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	193	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.D193N(2)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGGTCTCTCTGATCCCTATGT	0.537000														101			40		0	0	0.011902	0	0
VPS41	27072	broad.mit.edu	37	7	38783140	38783141	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:38783140_38783141GG>AA	uc003tgy.3	-	24	2008	c.1982_splice	c.e24-1	p.S661_splice	VPS41_uc003tgz.3_Splice_Site_p.S636_splice|VPS41_uc010kxn.3_Splice_Site_p.S572_splice|VPS41_uc003tgx.3_Splice_Site	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	661					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTACCCATTCGGCCTTGGTGGG	0.366000														37			74		0	0	0.004672	0	0
DAAM2	23500	broad.mit.edu	37	6	39832259	39832259	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:39832259C>T	uc003oow.3	+	3	448	c.309C>T	c.(307-309)atC>atT	p.I103I	DAAM2_uc010jxc.3_Silent_p.I103I|DAAM2_uc003oox.3_Silent_p.I103I	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	103	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTATTACATCGACCGCATCA	0.607000														22			6		0	0	0.004482	0	0
CA8	767	broad.mit.edu	37	8	61121413	61121413	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:61121413C>T	uc003xtz.1	-	7	1052	c.804G>A	c.(802-804)ggG>ggA	p.G268G	CA8_uc003xua.1_Silent_p.G268G	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	268					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)				CTCCCAAAATCCCATCACAGC	0.428000														45			20		0	0	0.010504	0	0
DDX1	1653	broad.mit.edu	37	2	15770985	15770985	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:15770985C>T	uc002rce.3	+	25	2466	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	DDX1_uc021vee.1_Silent_p.F645F	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	726	Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGACATCTTTCCTGCATCTTG	0.418000														32			56		0	0	0.014410	0	0
FAM174B	400451	broad.mit.edu	37	15	93277250	93277250	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:93277250G>A	uc002bsl.4	-	0		c.55C>T						Q3ZCQ3	F174B_HUMAN	Homo sapiens family with sequence similarity 174, member B (FAM174B), mRNA.							integral to membrane				endometrium(2)|lung(1)	3						GAGGTACCCCGGAATCGCAGC	0.587000														21			16		0	0	0.007413	0	0
TRIP13	9319	broad.mit.edu	37	5	916028	916028	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:916028G>A	uc003jbr.3	+	11	1288	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E		NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	381					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGAAGAGCGAGGGCCTCAGCG	0.542000														71			113		0	0	0.014410	0	0
FAM113B	91523	broad.mit.edu	37	12	47629803	47629803	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:47629803G>A	uc001rpq.3	+	1	1482	c.957G>A	c.(955-957)caG>caA	p.Q319Q	FAM113B_uc001rpn.3_Silent_p.Q319Q|FAM113B_uc021qxi.1_Silent_p.Q319Q	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	319	Pro-rich.						hydrolase activity	p.P318T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					tgtccccacagcctcctcctc	0.622000														80			37		0	0	0.004289	0	0
OR2F1	26211	broad.mit.edu	37	7	143657714	143657714	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143657714C>T	uc003wds.1	+	0	695	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTTTTGTCCTACATCCAGA	0.502000														71			41		0	0	0.009718	0	0
ARID2	196528	broad.mit.edu	37	12	46230605	46230605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:46230605G>A	uc001ros.1	+	7	854	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	ARID2_uc001ror.3_Missense_Mutation_p.R285Q|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	285					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R285Q(2)|p.R285W(2)		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)		GAAGGACAGCGGGTACTTCAG	0.403000			"""N, S, F"""		hepatocellular carcinoma									64			24		0	0	0.003954	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141470	63141470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63141470C>T	uc001nww.3	+	3	1034	c.766C>T	c.(766-768)Cga>Tga	p.R256*	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	256					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTTTGCCATTCGAGACTGGCA	0.463000														30			22		0	0	0.014323	0	0
DSN1	79980	broad.mit.edu	37	20	35399459	35399459	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:35399459T>C	uc010gfr.3	-	2	545	c.172A>G	c.(172-174)Agc>Ggc	p.S58G	DSN1_uc002xfz.3_Missense_Mutation_p.S58G|DSN1_uc002xfy.4_Intron|DSN1_uc010zvs.2_Intron|DSN1_uc002xga.3_Missense_Mutation_p.S58G|DSN1_uc002xgc.3_Missense_Mutation_p.S42G|DSN1_uc002xgb.3_Missense_Mutation_p.S42G	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	58					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTTTTAGGGCTAGAGCCAAGG	0.448000														128			66		0	0	0.014410	0	0
FOCAD	54914	broad.mit.edu	37	9	20990162	20990162	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:20990162T>C	uc003zog.1	+	43	5408	c.5045T>C	c.(5044-5046)gTt>gCt	p.V1682A	FOCAD_uc003zoh.1_Missense_Mutation_p.V1118A	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1682						integral to membrane	binding										ACCGCAGTGGTTGCATGGGCT	0.493000														53			29		0	0	0.009535	0	0
SNX29	92017	broad.mit.edu	37	16	12662380	12662380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:12662380G>A	uc002dby.4	+	20	2398	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	394	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACCCCGCCCGGAGAGCCTGTG	0.632000														36			12		0	0	0.002450	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103018	38103018	+	Silent	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38103018T>G	uc002ogq.3	+	4	1204	c.837T>G	c.(835-837)ggT>ggG	p.G279G	LOC100507433_uc002ogu.3_Silent_p.G279G|LOC100507433_uc010efq.3_Silent_p.G247G	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		GTGATAAGGGTTTTTTTAGTA	0.299000														31			21		0	0	0.012319	0	0
SPACA3	124912	broad.mit.edu	37	17	31322522	31322522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:31322522G>A	uc002hhs.1	+	1	205	c.130G>A	c.(130-132)Ggt>Agt	p.G44S	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	44					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GAGCCAGAGTGGTGGTGGCTC	0.617000														66			35		0	0	0.003271	0	0
CIT	11113	broad.mit.edu	37	12	120306862	120306862	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:120306862A>C	uc001txj.2	-	3	294	c.238_splice	c.e3+1	p.Y80_splice	CIT_uc001txi.2_Splice_Site_p.Y80_splice	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	80					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCCCAAACTTACACTTCCGGA	0.428000														89			39		0	0	0.006230	0	0
SNHG1	23642	broad.mit.edu	37	11	62622506	62622506	+	RNA	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:62622506T>C	uc001nvz.2	-	0		c.50A>G			SLC3A2_uc001nwd.3_5'Flank|SLC3A2_uc001nwc.3_5'Flank|SLC3A2_uc001nwf.3_5'Flank|SNHG1_uc001nvr.3_Intron|SNHG1_uc001nvs.3_Intron|SNHG1_uc001nvt.3_Non-coding_Transcript|SNHG1_uc001nvu.3_Intron|SNHG1_uc001nvv.2_5'Flank|SNHG1_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNHG1_uc001nvx.2_5'Flank|SNORD22_uc021qkn.1_5'Flank|SNORD28_uc001nvy.1_5'Flank					Homo sapiens small nucleolar RNA, C/D box 27 (SNORD27), small nucleolar RNA.																		TAAGATGACATCACTTGAAAG	0.393000														73			28		0	0	0.009535	0	0
LILRA1	11024	broad.mit.edu	37	19	55086465	55086465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55086465C>T	uc010ern.3	+	4	1089	c.620C>T	c.(619-621)tCt>tTt	p.S207F	LILRA1_uc002qgg.4_Missense_Mutation_p.S207F|LILRA1_uc002qgf.3_Missense_Mutation_p.S207F|LILRA1_uc010yfe.1_Missense_Mutation_p.S207F|LILRA1_uc010yff.1_Missense_Mutation_p.S195F|LILRA1_uc010ero.3_Missense_Mutation_p.S195F|LILRA1_uc010yfg.1_Missense_Mutation_p.S207F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	209	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	p.S207C(1)		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)		TATGTGTGGTCTCTACCCAGT	0.587000														100			48		0	0	0.014410	0	0
OR2C3	81472	broad.mit.edu	37	1	247694968	247694968	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247694968G>A	uc021pmb.1	-	0	846	c.846C>T	c.(844-846)gtC>gtT	p.V282V	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.V282V	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCGCAGGAGTGACTACGGTGT	0.532000														98			24		0	0	0.005443	0	0
ABCG1	9619	broad.mit.edu	37	21	43646014	43646014	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:43646014G>A	uc011aev.2	+	1	383	c.309G>A	c.(307-309)tgG>tgA	p.W103*	ABCG1_uc002zam.3_Nonsense_Mutation_p.W70*|ABCG1_uc002zan.3_Nonsense_Mutation_p.W94*|ABCG1_uc002zao.3_Nonsense_Mutation_p.W89*|ABCG1_uc002zap.3_Nonsense_Mutation_p.W92*|ABCG1_uc002zaq.3_Nonsense_Mutation_p.W92*|ABCG1_uc002zar.3_Nonsense_Mutation_p.W103*	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	92	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GACCCTGGTGGAGGAAGAAAG	0.562000														99			43		0	0	0.014410	0	0
UNC5C	8633	broad.mit.edu	37	4	96137344	96137344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:96137344G>A	uc003hto.3	-	9	2017	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	UNC5C_uc010ilc.2_Missense_Mutation_p.P574L|UNC5C_uc003htq.3_Missense_Mutation_p.P574L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	555	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGCCCCAGCGGGAATCAGCAA	0.448000														39			7		0	0	0.003080	0	0
SHKBP1	92799	broad.mit.edu	37	19	41095040	41095040	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:41095040C>T	uc002oob.3	+	14	1594	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	SHKBP1_uc002ooc.3_Silent_p.P490P|SHKBP1_uc010xvl.1_Silent_p.P438P|SHKBP1_uc002ooe.3_Silent_p.P352P|SHKBP1_uc010xvm.2_Silent_p.P295P|SHKBP1_uc010xvn.2_Silent_p.P393P	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	515						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGGTGCCCAGTGCCAGCC	0.647000														25			13		0	0	0.001855	0	0
CNTRL	11064	broad.mit.edu	37	9	123919771	123919771	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:123919771C>T	uc004bkx.1	+	25	4420	c.4389C>T	c.(4387-4389)ttC>ttT	p.F1463F	CNTRL_uc004bla.1_Silent_p.F911F|CNTRL_uc010mvo.1_Silent_p.F132F|CNTRL_uc004blb.1_Silent_p.F132F|CNTRL_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1463					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						TTGAAAAGTTCACTGATGCCA	0.403000														18			12		0	0	0.001855	0	0
NPPB	4879	broad.mit.edu	37	1	11918773	11918773	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11918773T>C	uc001atj.3	-	0	220	c.118A>G	c.(118-120)Acg>Gcg	p.T40A		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	40					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	p.T40T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	AACCCGGACGTTTCCAAGTCC	0.622000														91			47		0	0	0.014410	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116940	117116940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117116940C>T	uc003pxj.1	-	4	1629	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	GPRC6A_uc003pxk.1_Missense_Mutation_p.R361K|GPRC6A_uc003pxl.1_Missense_Mutation_p.R465K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	536					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTGTTGACTTCTTGTAGTTTT	0.338000														36			16		0	0	0.004007	0	0
URB2	9816	broad.mit.edu	37	1	229794933	229794933	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:229794933C>T	uc001hts.1	+	9	4600	c.4464C>T	c.(4462-4464)ttC>ttT	p.F1488F	URB2_uc009xfd.1_Silent_p.F1488F	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1488						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGTCCAGTTCCTGCGGGCCT	0.502000														174			128		0	0	0.014410	0	0
SETD1A	9739	broad.mit.edu	37	16	30980955	30980955	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:30980955T>G	uc002ead.1	+	11	3647	c.2961T>G	c.(2959-2961)gaT>gaG	p.D987E		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	987	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ATGAGGAAGATGAAGATCGAG	0.507000														25			9		0	0	0.004482	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622786	20622786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:20622786G>A	uc001mqd.3	+	1	388	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	39					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)	CCCGGAGCAGGAGCTTCCCGC	0.721000														16			4		0	0	0.009096	0	0
PPYR1	5540	broad.mit.edu	37	10	47087321	47087321	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:47087321C>T	uc001jee.3	+	2	957	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L180L|PPYR1_uc021ppu.1_Silent_p.L180L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	180					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAACAGCATCCTGGAGAATGT	0.582000														25			17		0	0	0.006122	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057749	63057749	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63057749G>C	uc009yor.3	+	0	320	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Splice_Site|SLC22A10_uc010rmp.1_5'Flank	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	38						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATACTGCTAGAGAACTTTGC	0.448000														58			18		0	0	0.008871	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476314	87476314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:87476314G>A	uc003uje.3	-	7	956	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	194					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CCTCCAAAGGGAAATCCAACC	0.403000														93			40		0	0	0.006999	0	0
CLTC	1213	broad.mit.edu	37	17	57754377	57754377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:57754377C>T	uc002ixr.1	+	16	3079	c.2636C>T	c.(2635-2637)aCt>aTt	p.T879I	CLTC_uc002ixp.3_Missense_Mutation_p.T875I|CLTC_uc002ixq.1_Missense_Mutation_p.T875I	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	875	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGCCTGCTACTCACAATGCC	0.433000			T	"""ALK, TFE3"""	"""ALCL, renal """									41			16		0	0	0.004990	0	0
FOLH1	2346	broad.mit.edu	37	11	49175882	49175882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:49175882C>T	uc001ngy.3	-	15	2047	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	FOLH1_uc001ngx.3_Missense_Mutation_p.D28N|FOLH1_uc009yly.3_Missense_Mutation_p.D581N|FOLH1_uc009ylz.3_Missense_Mutation_p.D581N|FOLH1_uc001ngz.3_Missense_Mutation_p.D596N|FOLH1_uc009yma.3_Missense_Mutation_p.D288N	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	596					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCTCGACAATCAAAAGGGAGC	0.383000														28			11		0	0	0.008871	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141460942	141460942	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:141460942A>C	uc003yvh.2	-	1	840	c.825T>G	c.(823-825)ctT>ctG	p.L275L	TRAPPC9_uc003yvj.2_Silent_p.L177L|TRAPPC9_uc003yvi.1_Silent_p.L177L	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	177					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGACACAGAGAAGGGGGATCT	0.522000														15			3		0	0	0.009096	0	0
DPYD	1806	broad.mit.edu	37	1	98058913	98058913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:98058913G>A	uc001drv.3	-	9	1126	c.989C>T	c.(988-990)tCg>tTg	p.S330L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	330					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCCCCGTATCGATGGCAATGG	0.478000														71			32		0	0	0.003755	0	0
PKP2	5318	broad.mit.edu	37	12	32955454	32955454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:32955454C>T	uc001rlj.4	-	10	2297	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	PKP2_uc001rlk.4_Missense_Mutation_p.E684K|PKP2_uc010skj.2_Missense_Mutation_p.E681K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	728					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.K727E(1)		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)					AGGCCACTTTCCTTCTGGACA	0.453000														95			42		0	0	0.011902	0	0
NLRP8	126205	broad.mit.edu	37	19	56466604	56466604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56466604C>T	uc002qmh.3	+	2	1251	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	NLRP8_uc010etg.3_Missense_Mutation_p.R394W	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	394	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)		CTCCATGTGCCGGGTCCCTGT	0.468000														67			27		0	0	0.008361	0	0
ARID3B	10620	broad.mit.edu	37	15	74887993	74887993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:74887993G>A	uc002aye.3	+	8	1765	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	ARID3B_uc002ayd.3_Missense_Mutation_p.G521R|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTCATCACGGGGTCTGCTCC	0.642000														31			13		0	0	0.004990	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325007	150325007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150325007C>T	uc022apv.1	-	2	1369	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	GIMAP6_uc003whn.3_Missense_Mutation_p.E227K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	227							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)		TAATCTCCTTCGTTTTCCCAC	0.512000														111			40		0	0	0.007835	0	0
PHF20L1	51105	broad.mit.edu	37	8	133855107	133855107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:133855107G>A	uc003ytt.3	+	18	3060	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	PHF20L1_uc011lja.2_Missense_Mutation_p.G886E	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	912							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAAGAACATGGAATGCCTGAA	0.348000														86			40		0	0	0.011902	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472504	47472504	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:47472504C>T	uc001rpm.3	-	2	937	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.K94K|AMIGO2_uc001rpl.3_Silent_p.K94K|AMIGO2_uc021qxg.1_Silent_p.K94K	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	94					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGGTGTTCAGCTTTGCAAACG	0.428000														60			27		0	0	0.005443	0	0
BNIPL	149428	broad.mit.edu	37	1	151011442	151011442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:151011442G>A	uc001ewl.2	+	3	546	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BNIPL_uc009wmi.2_Missense_Mutation_p.E43K|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	125					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGATAGACGAATTGGAGAC	0.527000														78			47		0	0	0.014410	0	0
DTNBP1	84062	broad.mit.edu	37	6	15533578	15533578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:15533578G>A	uc003nbm.3	-	7	749	c.560C>T	c.(559-561)aCc>aTc	p.T187I	DTNBP1_uc003nbl.3_Missense_Mutation_p.T106I|DTNBP1_uc010jph.3_Missense_Mutation_p.T174I|DTNBP1_uc003nbp.3_Missense_Mutation_p.T187I	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	187	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CATTTGCTGGGTGTGCTCCAT	0.517000									Hermansky-Pudlak syndrome					275			71		0	0	0.014410	0	0
KLKB1	3818	broad.mit.edu	37	4	187153328	187153328	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187153328G>T	uc003iyy.3	+	2	177	c.106G>T	c.(106-108)Gta>Tta	p.V36L	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_5'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	36	Apple 1.				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)		AGGTGGGGATGTAGCTTCCAT	0.393000														61			23		1.80694e-10	1.89797e-10	0.009535	1	0
ZNF765	91661	broad.mit.edu	37	19	53911937	53911937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53911937C>T	uc010ydx.2	+	5	1456	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	ZNF765_uc002qbm.3_Missense_Mutation_p.H377Y|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TCATAGAGTTCATACTGGAGA	0.408000														35			24		0	0	0.002780	0	0
CKMT2	1160	broad.mit.edu	37	5	80550260	80550260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:80550260G>A	uc003khc.4	+	4	639	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.G133S|CKMT2_uc003khd.4_Missense_Mutation_p.G133S|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGACACAACGGCTATGACCC	0.517000														26			21		0	0	0.012319	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000														31			6		0	0	0.001168	0	0
TLR2	7097	broad.mit.edu	37	4	154625141	154625141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:154625141C>T	uc003inq.3	+	2	1301	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	TLR2_uc003inr.3_Missense_Mutation_p.S361L|TLR2_uc003ins.3_Missense_Mutation_p.S361L|TLR2_uc021xtl.1_Missense_Mutation_p.S361L	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	361					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CATTTAAAATCATTAGAATAC	0.323000														31			15		0	0	0.003163	0	0
EXOSC10	5394	broad.mit.edu	37	1	11158200	11158200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11158200G>A	uc001asa.3	-	1	175	c.125C>T	c.(124-126)tCc>tTc	p.S42F	EXOSC10_uc001asb.3_Missense_Mutation_p.S42F|EXOSC10_uc009vmy.1_Missense_Mutation_p.S42F	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	42					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGCCACCACGGACCCAAGAGC	0.438000														54			18		0	0	0.006122	0	0
MYH7	4625	broad.mit.edu	37	14	23902789	23902789	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23902789G>A	uc001wjx.3	-	2	259	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	51	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGAGACACGATCTTGGCCT	0.557000														104			54		0	0	0.014410	0	0
NOTCH3	4854	broad.mit.edu	37	19	15272507	15272507	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:15272507G>A	uc002nan.3	-	32	6008	c.5932C>T	c.(5932-5934)Ctg>Ttg	p.L1978L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1978					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCGGCCAGGAATAGGGGG	0.637000														20			11		0	0	0.010729	0	0
PATL1	219988	broad.mit.edu	37	11	59415331	59415331	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:59415331C>G	uc001noe.4	-	14	1932	c.1789G>C	c.(1789-1791)Gtt>Ctt	p.V597L	PATL1_uc009yms.1_Missense_Mutation_p.V567L	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	597	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATACGGGCAACCATTCTCTTC	0.453000														26			8		0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100679927	100679927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100679927C>T	uc003uxp.1	+	2	5283	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1744	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)					AAACTCAACTCCTAGTGAAGG	0.493000														245			100		0	0	0.014410	0	0
MLIP	90523	broad.mit.edu	37	6	54095605	54095605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:54095605C>T	uc011dxa.2	+	11	2845	c.2812C>T	c.(2812-2814)Ctc>Ttc	p.L938F	MLIP_uc003pcg.4_Missense_Mutation_p.L403F|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	403						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCCACAGACCCTCTCACATGC	0.517000														168			86		0	0	0.014410	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21553046	21553046	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21553046G>A	uc001vzp.3	+	17	3953	c.3924G>A	c.(3922-3924)ggG>ggA	p.G1308G	ARHGEF40_uc001vzo.1_Silent_p.G387G|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Silent_p.G594G	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	1308	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCCCTGAAGGGGGGTCAGAGA	0.512000														105			37		0	0	0.009718	0	0
DUSP27	92235	broad.mit.edu	37	1	167097729	167097729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:167097729C>T	uc001geb.1	+	4	3377	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTCCCAGTATCGGAGAAGCAC	0.517000														32			24		0	0	0.002780	0	0
ADORA3	140	broad.mit.edu	37	1	112031474	112031474	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:112031474G>A	uc001ebf.3	-	2	1397	c.630C>T	c.(628-630)gcC>gcT	p.A210A	ADORA3_uc001ebg.4_Silent_p.A129A	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	p.A129A(1)|p.A210A(1)		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)	TGTCCCTCAGGGCCACATGAT	0.552000														30			36		0	0	0.003755	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607252	47607252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47607252C>T	uc001cqv.1	+	2	398	c.347C>T	c.(346-348)tCc>tTc	p.S116F	CYP4A22_uc009vyo.3_Missense_Mutation_p.S116F|CYP4A22_uc009vyp.3_Missense_Mutation_p.S116F	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	116						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACCCGAAATCCCATGGATCC	0.458000														55			17		0	0	0.006122	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	T	T	rs139469074		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:217297570C>T	uc002vgc.4	+	7	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_uc002vgd.4_Silent_p.S488S|SMARCAL1_uc010fvg.3_Silent_p.S488S	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.	488	Helicase ATP-binding.				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)		TGCCATCCTCCGTGCGCTTCA	0.517000									Schimke Immuno-Osseous Dysplasia					48			72		0	0	0.014410	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763932	92763932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:92763932C>T	uc003umh.1	-	4	2569	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	SAMD9L_uc003umj.1_Missense_Mutation_p.M451I|SAMD9L_uc003umi.1_Missense_Mutation_p.M451I|SAMD9L_uc010lfb.1_Missense_Mutation_p.M451I|SAMD9L_uc003umk.1_Missense_Mutation_p.M451I|SAMD9L_uc010lfc.1_Missense_Mutation_p.M451I|SAMD9L_uc010lfd.1_Missense_Mutation_p.M451I|SAMD9L_uc022ahh.1_Missense_Mutation_p.M451I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	451								p.M451I(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCATTGATCATAGATTCAG	0.343000														45			15		0	0	0.004007	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140671	143140671	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143140671G>A	uc011ktg.2	+	0	126	c.126G>A	c.(124-126)ctG>ctA	p.L42L	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	42					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.A41S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGCTGCTCTGGGCGTGGAGT	0.498000														94			34		0	0	0.003755	0	0
LRP12	29967	broad.mit.edu	37	8	105509875	105509875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:105509875G>A	uc003yma.3	-	4	1032	c.905C>T	c.(904-906)aCt>aTt	p.T302I	LRP12_uc003ymb.3_Missense_Mutation_p.T283I|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	302	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTAAAGTCAGTGAAGCGTAA	0.378000														25			16		0	0	0.004007	0	0
YIF1B	90522	broad.mit.edu	37	19	38799877	38799877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38799877G>A	uc002ohz.2	-	2	438	c.389C>T	c.(388-390)cCc>cTc	p.P130L	YIF1B_uc002ohw.2_Missense_Mutation_p.P99L|YIF1B_uc002ohx.2_Missense_Mutation_p.P115L|YIF1B_uc010xtx.1_Missense_Mutation_p.P113L|YIF1B_uc010xty.1_Missense_Mutation_p.P99L|YIF1B_uc002oia.2_Missense_Mutation_p.P127L|YIF1B_uc002ohy.2_Missense_Mutation_p.P127L|YIF1B_uc002oib.3_Missense_Mutation_p.P127L	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	130						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGTAGGTAGGGGAAGAACAG	0.607000														143			56		0	0	0.014410	0	0
WDR16	146845	broad.mit.edu	37	17	9515711	9515711	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:9515711A>C	uc010coc.3	+	8	1199	c.970A>C	c.(970-972)Att>Ctt	p.I324L	WDR16_uc002gly.3_Missense_Mutation_p.I314L|WDR16_uc002glz.3_Missense_Mutation_p.I246L			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	314						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAATCGCACATTTATCGTGT	0.443000														28			27		0	0	0.004656	0	0
CTSL2	1515	broad.mit.edu	37	9	99798970	99798970	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:99798970G>A	uc010msi.3	-	4	663	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CTSL2_uc004awt.3_Silent_p.F152F|CTSL2_uc004awu.3_Silent_p.F97F|CTSL2_uc010msj.2_Silent_p.F97F|CTSL2_uc010msk.3_Silent_p.F97F	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	152						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CAGTTTTCCGGAACATCTGTC	0.473000														37			20		0	0	0.010504	0	0
DSP	1832	broad.mit.edu	37	6	7583627	7583627	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:7583627C>T	uc003mxp.1	+	23	6411	c.6132C>T	c.(6130-6132)tcC>tcT	p.S2044S	DSP_uc003mxq.1_Silent_p.S1445S|DSP_uc021yle.1_Silent_p.S1601S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2044	Globular 2.				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)		GCCCAGAATCCACAGTCATGC	0.502000														146			26		0	0	0.005443	0	0
MEP1A	4224	broad.mit.edu	37	6	46803191	46803191	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:46803191C>T	uc011dwh.1	+	11	2081	c.2073C>T	c.(2071-2073)gaC>gaT	p.D691D	MEP1A_uc010jzh.1_Silent_p.D663D|MEP1A_uc011dwg.1_Silent_p.D385D|MEP1A_uc011dwi.1_Silent_p.D563D	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	663	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCCTGGAGGACCATAACTGGC	0.597000														16			7		0	0	0.003080	0	0
UGT2B28	54490	broad.mit.edu	37	4	70148315	70148315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70148315C>T	uc003hej.3	+	1	807	c.805C>T	c.(805-807)Cca>Tca	p.P269S	UGT2B28_uc010ihr.3_Missense_Mutation_p.P269S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	269					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTTCCTCATCCATTCTTACC	0.408000														124			55		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9090467	9090467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9090467C>T	uc002mkp.3	-	0	1552	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	450	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						GCAGTCATTTCGGACTCTTCT	0.488000														107			59		0	0	0.014410	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031781	132031781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132031781C>T	uc011ece.2	-	0	377	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	126						integral to membrane				endometrium(1)|lung(1)	2						CTCCAAACTTCGTGCTTCTTC	0.403000														121			50		0	0	0.014410	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														8			8		0	0	0.003080	0	0
NLRP4	147945	broad.mit.edu	37	19	56369320	56369320	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56369320T>A	uc002qmd.4	+	2	983	c.561T>A	c.(559-561)taT>taA	p.Y187*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.Y112*|NLRP4_uc010etf.3_Nonsense_Mutation_p.Y18*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	187	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACACGTTCTATTTCTGCTGCA	0.502000														91			48		0	0	0.014410	0	0
KCNH5	27133	broad.mit.edu	37	14	63174486	63174486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:63174486C>T	uc001xfx.3	-	10	2758	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	903					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAGGCCTGCTCGGGGATGGGA	0.547000														91			52		0	0	0.014410	0	0
HUWE1	10075	broad.mit.edu	37	X	53616539	53616539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:53616539G>A	uc004dsp.3	-	35	4831	c.4429C>T	c.(4429-4431)Cgt>Tgt	p.R1477C	HUWE1_uc004dsn.3_Missense_Mutation_p.R302C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1477					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCATGTCACGATAATCTGCT	0.483000														42			58		0	0	0.014410	0	0
KRT24	192666	broad.mit.edu	37	17	38855755	38855755	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38855755G>A	uc002hvd.3	-	5	1359	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	434	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCGTGTCTTGATGTCCAGCA	0.507000														113			51		0	0	0.014410	0	0
PKP2	5318	broad.mit.edu	37	12	32996245	32996245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:32996245G>A	uc001rlj.4	-	5	1496	c.1381C>T	c.(1381-1383)Cat>Tat	p.H461Y	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	461					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)					TTGACTGTATGGTCTGTACAA	0.532000														53			21		0	0	0.012319	0	0
MYOCD	93649	broad.mit.edu	37	17	12626277	12626277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:12626277G>A	uc002gno.2	+	4	666	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MYOCD_uc002gnn.2_Missense_Mutation_p.E123K|MYOCD_uc002gnp.1_Missense_Mutation_p.E27K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	123					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAGCTGGTGGAAAAAAACAT	0.473000														57			61		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28225792	28225792	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:28225792T>G	uc009xky.3	-	14	2213	c.2115A>C	c.(2113-2115)gaA>gaC	p.E705D	ARMC4_uc010qds.2_Missense_Mutation_p.E230D|ARMC4_uc010qdt.2_Missense_Mutation_p.E397D|ARMC4_uc001itz.3_Missense_Mutation_p.E705D	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	705							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						GGTCCCGGGTTTCCTTATCTT	0.478000														24			24		0	0	0.003330	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412884	19412884	+	RNA	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:19412884T>C	uc010tcj.1	-	0		c.33226A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCAATATCTGTCTTCAAAATG	0.269000														70			4		0	0	0.000602	0	0
PFDN2	5202	broad.mit.edu	37	1	161071905	161071905	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:161071905A>C	uc001fxu.3	-	2	271	c.221T>G	c.(220-222)gTt>gGt	p.V74G		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	Homo sapiens prefoldin subunit 2 (PFDN2), mRNA.	74					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CACTCCTCCAACCATGCGGTA	0.517000														98			16		0	0	0.004990	0	0
ITIH1	3697	broad.mit.edu	37	3	52821082	52821082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:52821082G>A	uc003dfs.3	+	13	1885	c.1855G>A	c.(1855-1857)Ggc>Agc	p.G619S	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.G477S|ITIH1_uc021wzg.1_Missense_Mutation_p.G331S|ITIH1_uc021wzh.1_Missense_Mutation_p.G331S|ITIH1_uc003dft.3_Missense_Mutation_p.G220S	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	619	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGACCAGGACGGCCTGAAGCC	0.592000														71			26		0	0	0.013726	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:59271645G>A	uc001noa.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTCTTGATGATTTCCAACA	0.498000														102			51		0	0	0.014410	0	0
ERF	2077	broad.mit.edu	37	19	42753410	42753410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:42753410G>A	uc002ote.4	-	3	1012	c.854C>T	c.(853-855)cCg>cTg	p.P285L	ERF_uc002otd.4_Missense_Mutation_p.P16L	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	285					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGGTACATCGGGCTCAGCGT	0.697000														16			13		0	0	0.013537	0	0
ARPP21	10777	broad.mit.edu	37	3	35756948	35756948	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:35756948A>G	uc011axy.2	+	9	1025	c.813A>G	c.(811-813)gaA>gaG	p.E271E	ARPP21_uc003cga.3_Silent_p.E271E|ARPP21_uc003cgb.3_Silent_p.E305E|ARPP21_uc003cgf.3_Silent_p.E107E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	305						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTCCCAGGAAAGCCTTTTTG	0.343000														55			18		0	0	0.010504	0	0
AMPH	273	broad.mit.edu	37	7	38433605	38433605	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:38433605C>T	uc003tgu.3	-	18	1824	c.1608_splice	c.e18+1	p.Q536_splice	AMPH_uc003tgv.3_Splice_Site_p.Q494_splice|AMPH_uc003tgt.3_Splice_Site_p.Q421_splice|AMPH_uc003tgw.1_Splice_Site_p.Q559_splice|AMPH_uc010kxl.1_Splice_Site	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	536					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						GGACACTCACCTGAGGCACTG	0.517000														110			16		0	0	0.004007	0	0
SPAG17	200162	broad.mit.edu	37	1	118623749	118623749	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:118623749C>T	uc001ehk.2	-	14	2252	c.2184G>A	c.(2182-2184)aaG>aaA	p.K728K	SPAG17_uc021oss.1_Silent_p.K49K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	728						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)		GGGGCTGAGCCTTCATGATGC	0.403000														90			70		0	0	0.014410	0	0
ACTN2	88	broad.mit.edu	37	1	236898939	236898939	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:236898939C>T	uc001hyf.2	+	7	906	c.702C>T	c.(700-702)atC>atT	p.I234I	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	234	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTCAGACATCGTGAACACCC	0.527000														67			11		0	0	0.013537	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832669	34832669	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:34832669C>T	uc002nvd.4	+	9	2689	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	610										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)					CTCAGAATTCCAGTAATACAG	0.453000														47			22		0	0	0.012319	0	0
CNOT1	23019	broad.mit.edu	37	16	58570932	58570932	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:58570932G>A	uc002env.3	-	38	5900	c.5607C>T	c.(5605-5607)ggC>ggT	p.G1869G	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.G1864G|CNOT1_uc010vik.2_Silent_p.G826G	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1869					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTGTCGCGGCCAGCTGCTG	0.483000														58			35		0	0	0.006230	0	0
RP1	6101	broad.mit.edu	37	8	55537472	55537472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:55537472G>A	uc003xsd.1	+	3	1178	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	344					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)			AATAAAAGAGGAAGAAACCAT	0.338000														24			17		0	0	0.004990	0	0
BYSL	705	broad.mit.edu	37	6	41889369	41889369	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41889369C>T	uc003orl.3	+	0	405	c.69C>T	c.(67-69)atC>atT	p.I23I	MED20_uc003orj.3_5'Flank|MED20_uc003ork.3_5'Flank|MED20_uc011duh.2_5'Flank|MED20_uc011dui.2_5'Flank|MED20_uc011duj.2_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	23					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGATCAGATCCTGGCTGGGA	0.652000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			36		0	0	0.004878	0	0
PELI3	246330	broad.mit.edu	37	11	66243537	66243537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:66243537C>T	uc001oic.4	+	7	1473	c.1309C>T	c.(1309-1311)Cac>Tac	p.H437Y	PELI3_uc021qlx.1_Missense_Mutation_p.H413Y|PELI3_uc001oid.4_Missense_Mutation_p.H413Y|PELI3_uc021qly.1_Missense_Mutation_p.H330Y	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	437						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACCACTGCCCCACGGCACCCA	0.662000														16			10		0	0	0.010729	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265234	42265234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:42265234G>A	uc002orm.2	+	2	651	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	168	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCACCTGTGAACCTGAGGT	0.567000														142			80		0	0	0.014410	0	0
VN1R2	317701	broad.mit.edu	37	19	53762433	53762433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53762433C>T	uc002qbi.2	+	0	889	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	269					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GACATCCTTCCATGATGTTTT	0.453000														86			49		0	0	0.014410	0	0
PTGFR	5737	broad.mit.edu	37	1	78959101	78959101	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:78959101A>T	uc001din.3	+	1	939	c.673A>T	c.(673-675)Att>Ttt	p.I225F	PTGFR_uc001dim.3_Missense_Mutation_p.I225F	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	225					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AATCACAGGAATTACACTTTT	0.388000														52			19		0	0	0.010504	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438184	204438185	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:204438184_204438185CA>AC	uc001haw.3	-	2	1225_1226	c.746_747TG>GT	c.(745-747)ttg>tGT	p.L249C	PIK3C2B_uc010pqv.2_Missense_Mutation_p.L249C|PIK3C2B_uc001hax.1_Missense_Mutation_p.L249C|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	249	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGCATCCCGCAACATCTCCGC	0.579000														380			93		0	0	0.004672	0	0
KCNH6	81033	broad.mit.edu	37	17	61613048	61613048	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:61613048C>T	uc002jay.3	+	5	1200	c.1120C>T	c.(1120-1122)Cta>Tta	p.L374L	KCNH6_uc002jax.1_Silent_p.L374L|KCNH6_uc010wpl.2_Silent_p.L251L|KCNH6_uc010wpm.2_Silent_p.L374L|KCNH6_uc002jaz.1_Silent_p.L374L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	374					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTGATTGGGCTATTGAAGAC	0.597000														30			21		0	0	0.002780	0	0
SLC19A1	6573	broad.mit.edu	37	21	46936041	46936041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46936041G>A	uc002zhl.2	-	5	1460	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	SLC19A1_uc010gpy.1_Intron|SLC19A1_uc011aft.2_Missense_Mutation_p.S396F|SLC19A1_uc002zhm.2_Intron|SLC19A1_uc010gpz.2_Missense_Mutation_p.S315F	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	436					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)		GAAGTACACGGAGTATAACTG	0.672000														23			13		0	0	0.002450	0	0
ATR	545	broad.mit.edu	37	3	142274762	142274762	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:142274762G>A	uc003eux.4	-	9	2420	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	766					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGGAAAAGGAATGGCTTGC	0.358000								Other conserved DNA damage response genes						25			32		0	0	0.004289	0	0
TAT	6898	broad.mit.edu	37	16	71610158	71610158	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:71610158T>C	uc002fap.2	-	1	260	c.161A>G	c.(160-162)aAc>aGc	p.N54S	TAT_uc002faq.3_Missense_Mutation_p.N54S|TAT_uc002far.3_Missense_Mutation_p.N54S	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	54					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	p.N54S(2)		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)	TCGGATGGGGTTGAAAGTTTT	0.507000														26			10		0	0	0.008291	0	0
TXNDC5	81567	broad.mit.edu	37	6	8064587	8064587	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:8064587G>C	uc003mxy.3	-	0	61	c.23C>G	c.(22-24)aCc>aGc	p.T8S	TXNDC5_uc003mxw.3_5'UTR|TXNDC5_uc010job.3_Non-coding_Transcript|TXNDC5_uc010joc.3_5'UTR|TXNDC5_uc021ylf.1_Missense_Mutation_p.T8S|TXNDC5_uc021ylg.1_Intron	NM_201280	NP_958437	Q8NBS9	TXND5_HUMAN	Homo sapiens muted homolog (mouse) (MUTED), transcript variant 1, mRNA.	0					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					ACCCACAGGGGTCTCTGTCCC	0.692000														54			6		0	0	0.004482	0	0
TSPAN18	90139	broad.mit.edu	37	11	44939538	44939538	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:44939538C>T	uc001myg.3	+	2	284	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	TSPAN18_uc001mye.4_Silent_p.L92L|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	92						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CCTGTTCATCCTGATCATCTT	0.572000														71			15		0	0	0.004990	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38632042	38632042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38632042C>T	uc002ohk.3	+	10	3871	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1121					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)			CCCATAGTCCCCTTCCGGGAG	0.647000														86			36		0	0	0.007835	0	0
PTPRB	5787	broad.mit.edu	37	12	70953405	70953405	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:70953405C>T	uc001swb.4	-	16	3809	c.3779_splice	c.e16-1	p.A1260_splice	PTPRB_uc010sto.2_Splice_Site_p.A1170_splice|PTPRB_uc010stp.2_Splice_Site_p.A1170_splice|PTPRB_uc001swc.4_Splice_Site_p.A1478_splice|PTPRB_uc001swa.4_Splice_Site_p.A1390_splice|PTPRB_uc001swd.4_Intron|PTPRB_uc009zrr.2_Intron	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1260	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGACTTGGAGCTGAATGTAGG	0.418000														19			8		0	0	0.003080	0	0
MOG	4340	broad.mit.edu	37	6	29625047	29625047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29625047C>T	uc003nnf.3	+	0	290	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	MOG_uc003qzk.2_Missense_Mutation_p.L21F|MOG_uc010kle.2_Non-coding_Transcript|MOG_uc010klf.2_Non-coding_Transcript|MOG_uc003nmy.2_Missense_Mutation_p.L21F|MOG_uc003nna.3_Missense_Mutation_p.L21F|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Missense_Mutation_p.L21F|MOG_uc011dlu.2_Missense_Mutation_p.L21F|MOG_uc003nne.3_Missense_Mutation_p.L21F|MOG_uc003nng.3_Missense_Mutation_p.L21F|MOG_uc003nni.3_Missense_Mutation_p.L21F|MOG_uc003nnh.3_Missense_Mutation_p.L21F|MOG_uc003nnj.3_Missense_Mutation_p.L21F|MOG_uc003nnk.3_Missense_Mutation_p.L21F	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	21					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						cctcctcctcctcctccAAGT	0.552000														16			11		0	0	0.010729	0	0
SVIL	6840	broad.mit.edu	37	10	29840032	29840032	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:29840032C>T	uc001iut.1	-	5	1074	c.321G>A	c.(319-321)agG>agA	p.R107R	SVIL_uc001iuu.1_Silent_p.R107R|SVIL_uc009xld.1_Silent_p.R107R	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	107	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGCTTTGTACCTTGCAATTC	0.532000														53			47		0	0	0.014410	0	0
OR5B12	390191	broad.mit.edu	37	11	58206915	58206915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58206915G>A	uc010rkh.2	-	0	732	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S237C(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCACAAGTAGAAAAGGCCTT	0.418000														24			11		0	0	0.013537	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496989	220496989	+	Silent	SNP	C	T	T	rs145141849	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:220496989C>T	uc002vmo.4	+	7	1256	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	SLC4A3_uc002vmp.4_Silent_p.F322F|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	322					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGGTGTTCGTGGAGCTGA	0.672000														23			41		0	0	0.007835	0	0
GLP2R	9340	broad.mit.edu	37	17	9783827	9783827	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:9783827C>T	uc002gmd.1	+	10	1278	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	426					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CACTGAGCTCCTTTCATGTAA	0.403000														26			24		0	0	0.003330	0	0
MASP1	5648	broad.mit.edu	37	3	187003811	187003811	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:187003811G>A	uc003frh.2	-	1	429	c.39C>T	c.(37-39)tcC>tcT	p.S13S	MASP1_uc003fri.3_Silent_p.S13S|MASP1_uc003frj.3_Intron|MASP1_uc003frk.2_Silent_p.S13S|MASP1_uc011bse.2_5'UTR	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	13					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTTTGACAGGGAGAAGCACA	0.473000														24			17		0	0	0.008871	0	0
ZNF283	284349	broad.mit.edu	37	19	44352446	44352446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	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														34			22		0	0	0.012319	0	0
EYA2	2139	broad.mit.edu	37	20	45633618	45633618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:45633618G>A	uc002xsm.3	+	3	567	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	EYA2_uc010ghp.3_Missense_Mutation_p.A65T|EYA2_uc002xsq.3_Missense_Mutation_p.A65T	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	65					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCCTTCCACAGCCATGGCAGC	0.577000														89			34		0	0	0.006230	0	0
NUMA1	4926	broad.mit.edu	37	11	71727571	71727571	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:71727571G>A	uc001orl.1	-	13	1297	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Silent_p.C375C|NUMA1_uc001orm.1_Silent_p.C375C|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Silent_p.C375C|NUMA1_uc001oro.1_Silent_p.C375C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	375					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTCTTCAAGGCATTTCTGGG	0.512000			T	RARA	APL									49			18		0	0	0.012319	0	0
STAB2	55576	broad.mit.edu	37	12	104056714	104056714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:104056714C>T	uc001tjw.3	+	17	2146	c.1960C>T	c.(1960-1962)Cct>Tct	p.P654S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	654					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						AGTTCTCATTCCTCCCTCCAT	0.438000														76			44		0	0	0.014410	0	0
WDR62	284403	broad.mit.edu	37	19	36562584	36562584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:36562584C>T	uc002odd.2	+	7	1100	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	WDR62_uc002odc.2_Missense_Mutation_p.L337F|WDR62_uc002odb.2_Missense_Mutation_p.L337F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	337					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)			GCCACACTACCTTGGGGTAGA	0.617000														28			14		0	0	0.004007	0	0
ZNF536	9745	broad.mit.edu	37	19	30936591	30936591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:30936591G>A	uc002nsu.1	+	1	2260	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R	ZNF536_uc010edd.1_Missense_Mutation_p.G708R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G708W(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCCCAGACCGGGAGTGCCCA	0.677000														30			11		0	0	0.013537	0	0
TBL3	10607	broad.mit.edu	37	16	2025693	2025694	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2025693_2025694CC>TT	uc002cnu.1	+	9	1071_1072	c.969_970CC>TT	c.(967-972)tccctg>tcTTtg	p.323_324SL>SL	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.209_210SL>SL|TBL3_uc010bsc.1_Silent_p.209_210SL>SL|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	323					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGGCTCGCTCCCTGCGGCTGCA	0.668000														29			14		0	0	0.004672	0	0
IMPG1	3617	broad.mit.edu	37	6	76657158	76657158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:76657158C>T	uc003pik.1	-	13	2047	c.1917G>A	c.(1915-1917)atG>atA	p.M639I		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	639	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TAGCAAACTTCATTTTGCTAT	0.433000														32			11		0	0	0.008291	0	0
GALNT12	79695	broad.mit.edu	37	9	101585540	101585540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:101585540G>A	uc004ayz.3	+	1	374	c.374G>A	c.(373-375)tGc>tAc	p.C125Y		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	125						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ATTTGCAGGTGCAAAGAGAAG	0.463000														20			24		0	0	0.008361	0	0
DOCK8	81704	broad.mit.edu	37	9	463581	463581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:463581G>A	uc003zgf.2	+	46	6245	c.6133G>A	c.(6133-6135)Gaa>Aaa	p.E2045K	DOCK8_uc022bcu.1_Missense_Mutation_p.E1977K|DOCK8_uc010mgv.3_Missense_Mutation_p.E1945K|DOCK8_uc010mgu.3_Missense_Mutation_p.E1347K|DOCK8_uc003zgk.2_Missense_Mutation_p.E1503K	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	2045					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATATCAGCAGGAACTCAAAAA	0.413000														47			25		0	0	0.003330	0	0
SYCP1	6847	broad.mit.edu	37	1	115455695	115455695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115455695C>T	uc001efr.3	+	18	1780	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.S524L|SYCP1_uc009wgw.3_Missense_Mutation_p.S524L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	524				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.L523V(1)	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)		AACAAGCTTTCACTAGAAAAC	0.313000														136			45		0	0	0.014410	0	0
ADRB1	153	broad.mit.edu	37	10	115804217	115804217	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:115804217T>G	uc001lba.3	+	0	412	c.326T>G	c.(325-327)cTg>cGg	p.L109R		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	109					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GTCATGGGGCTGCTGGTGGTG	0.652000														39			30		0	0	0.010818	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568772	46568772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46568772G>A	uc001ncv.2	-	3	583	c.269C>T	c.(268-270)tCc>tTc	p.S90F	AMBRA1_uc009ylc.1_Missense_Mutation_p.S90F|AMBRA1_uc001ncu.1_Missense_Mutation_p.S90F|AMBRA1_uc010rgu.1_Missense_Mutation_p.S90F|AMBRA1_uc001ncw.2_Missense_Mutation_p.S90F|AMBRA1_uc001ncx.2_Missense_Mutation_p.S90F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	90					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCAATCAGGGAATGAACACA	0.468000														72			32		0	0	0.013726	0	0
RGPD3	653489	broad.mit.edu	37	2	107029659	107029659	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:107029659A>C	uc010ywi.1	-	21	5204	c.5147T>G	c.(5146-5148)gTc>gGc	p.V1716G		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1716	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGCAGCAAGACGTTCTTCAA	0.408000														53			105		0	0	0.014410	0	0
GTPBP2	54676	broad.mit.edu	37	6	43589866	43589866	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:43589866G>A	uc003ovs.3	-	10	1543	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	GTPBP2_uc010jyv.3_Silent_p.I414I	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	502							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ACACCGAGCAGATGGTAGGAT	0.577000														64			20		0	0	0.008871	0	0
VWA7	80737	broad.mit.edu	37	6	31741213	31741213	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31741213C>T	uc011dog.2	-	6	960	c.722_splice	c.e6-1	p.G241_splice	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Intron	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	241						extracellular region											GGCTACATTTCCCTGGGTTGG	0.597000														260			92		0	0	0.014410	0	0
SPRR4	163778	broad.mit.edu	37	1	152944417	152944417	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152944417G>A	uc001fav.1	+	1	114	c.51G>A	c.(49-51)agG>agA	p.R17R	SPRR4_uc021ozm.1_Silent_p.R17R	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	17	Gln-rich.				keratinization|peptide cross-linking	cell cortex		p.Q16H(1)		lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCCAGAGGGCCCAGCAGC	0.582000														93			55		0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238253051	238253051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:238253051C>T	uc002vwl.2	-	35	7895	c.7610G>A	c.(7609-7611)gGg>gAg	p.G2537E	COL6A3_uc002vwo.2_Missense_Mutation_p.G2331E|COL6A3_uc010znj.1_Missense_Mutation_p.G1930E|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.G358E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2537	Nonhelical region.|VWFA 11.				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)		GGGGGTGATCCCCGCATCTGA	0.537000														43			131		0	0	0.014410	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:71571180C>T	uc021tkt.1	+	0	600	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_uc002fan.3_Silent_p.I200I|CHST4_uc002fao.3_Silent_p.I200I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	200					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000														35			11		0	0	0.008291	0	0
OR13G1	441933	broad.mit.edu	37	1	247836293	247836293	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247836293C>T	uc001idi.1	-	0	51	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAGTTCAGGCTTTTTGGTGA	0.398000														85			17		0	0	0.008871	0	0
ANK2	287	broad.mit.edu	37	4	114277367	114277367	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:114277367A>G	uc003ibe.4	+	37	7693	c.7593A>G	c.(7591-7593)tcA>tcG	p.S2531S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.S2546S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2498					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)		TGGAGAGCTCAGGGAAGAGCC	0.547000														79			32		0	0	0.013726	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598324	46598324	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:46598324G>A	uc009zkj.1	-	9	1381	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC38A1_uc001rpb.3_Silent_p.F232F|SLC38A1_uc001rpc.3_Silent_p.F232F|SLC38A1_uc001rpd.3_Silent_p.F232F|SLC38A1_uc001rpe.3_Silent_p.F232F|SLC38A1_uc010slh.2_Silent_p.F205F|SLC38A1_uc001rpa.3_Silent_p.F232F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	232					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCACAATTAGGAAAAAAACCA	0.289000														135			71		0	0	0.014410	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:55128600C>T	uc003pcl.3	+	3	1057	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000														20			10		0	0	0.010729	0	0
CPD	1362	broad.mit.edu	37	17	28783503	28783503	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:28783503A>T	uc002hfb.2	+	16	3514	c.3457A>T	c.(3457-3459)Atg>Ttg	p.M1153L	CPD_uc010wbo.2_Missense_Mutation_p.M906L|CPD_uc010wbp.2_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1153	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGGAGGAGTAATGCGTGGAGC	0.438000														32			28		0	0	0.010818	0	0
TMC7	79905	broad.mit.edu	37	16	19020599	19020599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19020599C>T	uc002dfp.2	+	1	303	c.173C>T	c.(172-174)tCc>tTc	p.S58F	TMC7_uc010vao.1_Missense_Mutation_p.S58F|TMC7_uc002dfq.3_Missense_Mutation_p.S58F|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	58						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACTGTCCATTCCCGGGACAAG	0.517000														37			21		0	0	0.012319	0	0
ABCG8	64241	broad.mit.edu	37	2	44079832	44079832	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:44079832G>A	uc002rtq.3	+	5	879	c.789G>A	c.(787-789)cgG>cgA	p.R263R	ABCG8_uc010yoa.2_Silent_p.R263R	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	263	ABC transporter.		R -> Q (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGCAACCGGCTGGTGCTCA	0.582000														145			242		0	0	0.014410	0	0
TYRO3	7301	broad.mit.edu	37	15	41861141	41861141	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:41861141C>T	uc001zof.2	+	8	1409	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	391	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGACCTGATCGTACGTGTGT	0.587000														30			15		0	0	0.002450	0	0
FMN2	56776	broad.mit.edu	37	1	240601433	240601433	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240601433C>T	uc010pye.2	+	16	5220	c.4995C>T	c.(4993-4995)ttC>ttT	p.F1665F	FMN2_uc010pyd.2_Silent_p.F1661F|FMN2_uc010pyg.2_Silent_p.F257F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1661	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAATGCTTTCTTCAGTATCT	0.388000														142			36		0	0	0.013726	0	0
LAMA5	3911	broad.mit.edu	37	20	60889937	60889937	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:60889937A>C	uc002ycq.3	-	59	8181	c.8114T>G	c.(8113-8115)gTg>gGg	p.V2705G	LAMA5_uc021wfw.1_Missense_Mutation_p.V2705G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2705	Domain II and I.				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)	GGCGTTGTGCACCCCACGGTT	0.672000														69			36		0	0	0.003271	0	0
SIX4	51804	broad.mit.edu	37	14	61180583	61180583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:61180583G>A	uc001xfc.3	-	2	1948	c.1888C>T	c.(1888-1890)Ccc>Tcc	p.P630S		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	630						nucleus				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)		AGCTCAGTGGGATTTAGTAGT	0.473000														14			13		0	0	0.001855	0	0
KRT1	3848	broad.mit.edu	37	12	53073632	53073632	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:53073632C>T	uc001sau.1	-	0	560	c.501G>A	c.(499-501)gtG>gtA	p.V167V	KRT1_uc001sav.1_Silent_p.V167V	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	167	Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGTCAATCTCCACATTGAGGG	0.493000														90			40		0	0	0.013114	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103515	38103515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38103515G>A	uc002ogq.3	+	4	1701	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	LOC100507433_uc002ogu.3_Missense_Mutation_p.G445E|LOC100507433_uc010efq.3_Missense_Mutation_p.G413E	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		AAGGAATGCGGGAAAGCCTTT	0.423000														39			18		0	0	0.006122	0	0
CCDC102A	92922	broad.mit.edu	37	16	57546746	57546746	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:57546746C>T	uc002elw.3	-	8	1773	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	520										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TGCGGATCTTCCCGAAGAGGG	0.637000														50			29		0	0	0.008361	0	0
SETBP1	26040	broad.mit.edu	37	18	42531222	42531222	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:42531222G>A	uc010dni.3	+	3	2213	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	639						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCGGGAGAGGACAAACCCA	0.488000									Schinzel-Giedion syndrome					57			20		0	0	0.010504	0	0
OR6X1	390260	broad.mit.edu	37	11	123624355	123624355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:123624355C>T	uc010rzy.2	-	0	872	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCCTTGTTTCTAATAGTATA	0.418000														74			61		0	0	0.014410	0	0
TMC5	79838	broad.mit.edu	37	16	19452014	19452014	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19452014C>T	uc002dgc.4	+	2	1403	c.654C>T	c.(652-654)ccC>ccT	p.P218P	TMC5_uc010vaq.2_Silent_p.P218P|TMC5_uc002dgb.4_Silent_p.P218P|TMC5_uc010var.2_Silent_p.P218P	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	218						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						ACTCTCCACCCTTTTTTGGGG	0.448000														57			25		0	0	0.003954	0	0
TEX264	51368	broad.mit.edu	37	3	51718650	51718650	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:51718650G>A	uc021wyu.1	+	3	572	c.480_splice	c.e3+1	p.K160_splice	TEX264_uc021wyt.1_Intron|TEX264_uc010hls.3_Splice_Site_p.K160_splice|TEX264_uc003dbk.4_Splice_Site_p.K160_splice|TEX264_uc010hlt.3_Splice_Site|TEX264_uc003dbm.4_Splice_Site_p.K160_splice	NM_001243726	NP_001230655	Q9Y6I9	TX264_HUMAN	Homo sapiens testis expressed 264 (TEX264), transcript variant 4, mRNA.	160						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CCTACATCAAGGTGAGGCACA	0.602000														13			5		0	0	0.001984	0	0
OR10J5	127385	broad.mit.edu	37	1	159504995	159504995	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159504995T>G	uc010piw.2	-	0	803	c.803A>C	c.(802-804)gAa>gCa	p.E268A		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	268					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)					AAGGTCTTTTTCTATTGAACT	0.483000														70			21		0	0	0.012319	0	0
ABCC3	8714	broad.mit.edu	37	17	48745836	48745836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:48745836G>A	uc002isl.3	+	13	1908	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	610					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)	GAGCCAAGAGGAACTTGACCC	0.567000														59			31		0	0	0.010818	0	0
CACYBP	27101	broad.mit.edu	37	1	174977763	174977763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:174977763C>T	uc001gkj.1	+	4	876	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	CACYBP_uc001gki.1_Missense_Mutation_p.L108F	NM_014412	NP_001007215	Q9HB71	CYBP_HUMAN	Homo sapiens calcyclin binding protein (CACYBP), transcript variant 1, mRNA.	151	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATACAGTTCTTATATTGTG	0.343000														74			24		0	0	0.003954	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389841	1389841	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:1389841C>T	uc001aft.2	+	3	1334	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	113							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAGACGTCCCGCATCACGG	0.667000														22			9		0	0	0.006214	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057751	152057751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152057751G>A	uc001ezo.1	-	2	2472	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	803							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTAGGTACTGGTATAGTGGA	0.493000														164			116		0	0	0.014410	0	0
RIOK1	83732	broad.mit.edu	37	6	7403060	7403060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:7403060G>A	uc003mxn.3	+	7	871	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	RIOK1_uc003mxm.1_Missense_Mutation_p.G129S|RIOK1_uc003mxo.3_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	233	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATTTCGTCATGGCTATTGTAA	0.323000														61			16		0	0	0.004990	0	0
FGF9	2254	broad.mit.edu	37	13	22275367	22275367	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:22275367C>T	uc001uog.2	+	2	1257	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	140					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAGAACAGTTCGAAGAAAACT	0.393000														4			14		0	0	0.004007	0	0
PTPN9	5780	broad.mit.edu	37	15	75815515	75815515	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:75815515G>A	uc002bal.3	-	3	877	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	123	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCACATGTTGGACTGACTTGT	0.418000														34			19		0	0	0.006122	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201725	21201725	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:21201725G>A	uc002gys.3	+	2	315	c.50_splice	c.e2-1	p.G17_splice	MAP2K3_uc002gyt.3_Splice_Site|MAP2K3_uc021tsq.1_Splice_Site|MAP2K3_uc021tsr.1_Splice_Site	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	17					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|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 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCATTCTAGGAAAATCCAAG	0.577000														217			55		0	0	0.014410	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065199	63065199	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63065199G>A	uc009yor.3	+	4	1038	c.830_splice	c.e4+1	p.R277_splice	SLC22A10_uc010rmo.1_Splice_Site|SLC22A10_uc001nwu.4_Splice_Site|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	277						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTTTCAAGGTAGGAGCTT	0.443000														39			32		0	0	0.010818	0	0
EMR1	2015	broad.mit.edu	37	19	6921750	6921750	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:6921750C>T	uc002mfw.3	+	13	1685	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	EMR1_uc010dvc.3_Silent_p.I549I|EMR1_uc010dvb.3_Silent_p.I497I|EMR1_uc010xji.2_Silent_p.I408I|EMR1_uc010xjj.2_Silent_p.I372I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	549	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGAGGCCCATCTGTGTTTCCT	0.428000														20			19		0	0	0.006122	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590526	137590526	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:137590526A>T	uc003vtw.3	-	5	1233	c.837T>A	c.(835-837)taT>taA	p.Y279*	CREB3L2_uc003vtx.2_Nonsense_Mutation_p.Y279*|CREB3L2_uc003vtv.3_Nonsense_Mutation_p.Y216*	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	279					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGGGGATGGGATAGCCCTCAG	0.512000			T	FUS	fibromyxoid sarcoma									116			49		0	0	0.014410	0	0
PLCB1	23236	broad.mit.edu	37	20	8698405	8698405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:8698405G>A	uc002wnb.3	+	13	1426	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	PLCB1_uc010zrb.1_Missense_Mutation_p.E374K|PLCB1_uc002wna.3_Missense_Mutation_p.E475K|PLCB1_uc002wnc.1_Missense_Mutation_p.E374K|PLCB1_uc002wnd.1_Missense_Mutation_p.E52K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	475					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAAGTCATCAGAAGGAAGCGG	0.453000														53			30		0	0	0.007291	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608822	2608822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:2608822C>T	uc001lwn.3	+	8	1259	c.1151C>T	c.(1150-1152)gCc>gTc	p.A384V	KCNQ1_uc009ydp.1_Missense_Mutation_p.A168V|KCNQ1_uc001lwo.3_Missense_Mutation_p.A257V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	384					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGCTATGCTGCCGAGAACCCC	0.647000														224			88		0	0	0.014410	0	0
PTPRC	5788	broad.mit.edu	37	1	198703464	198703464	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:198703464G>A	uc001gur.1	+	21	2361	c.2181G>A	c.(2179-2181)agG>agA	p.R727R	PTPRC_uc001gut.1_Silent_p.R566R|PTPRC_uc021pgy.1_Silent_p.R681R|PTPRC_uc010ppg.1_Silent_p.R663R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	727	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R727M(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAGGTCCCAGGGATGAAACTG	0.338000														582			151		0	0	0.014410	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58178429	58178429	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:58178429C>T	uc003djo.1	-	7	1000	c.903G>A	c.(901-903)aaG>aaA	p.K301K	DNASE1L3_uc011bfd.1_Silent_p.K271K|DNASE1L3_uc003djp.1_Silent_p.K301K|DNASE1L3_uc003djq.1_3'UTR	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	301					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		AGCGTTTGCTCTTTGTTTTCT	0.413000														74			29		0	0	0.007291	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488422	84488422	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84488422A>C	uc010chj.3	+	21	2070	c.1981_splice	c.e21-2	p.A661_splice	ATP2C2_uc002fhx.3_Splice_Site_p.A661_splice|ATP2C2_uc002fhy.3_Splice_Site_p.A678_splice|ATP2C2_uc002fhz.3_Splice_Site_p.A510_splice	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	661					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						CTCTTTCCAAAGGCTCTGCAG	0.632000														32			11		0	0	0.010729	0	0
CD163	9332	broad.mit.edu	37	12	7647853	7647853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7647853C>T	uc001qsz.3	-	5	1372	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CD163_uc001qta.3_Missense_Mutation_p.G415E|CD163_uc009zfw.2_Missense_Mutation_p.G415E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	415	SRCR 4.				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						AGATCCACATCCCAGCTGCCT	0.468000														76			28		0	0	0.009535	0	0
RAG2	5897	broad.mit.edu	37	11	36615272	36615272	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:36615272C>T	uc021qge.1	-	0	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	RAG2_uc021qgc.1_Silent_p.G149G|RAG2_uc021qgd.1_Silent_p.G149G|RAG2_uc001mwv.4_Silent_p.G149G|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.	149					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)				CCATACTTTTCCCTCGGCTGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis					97			37		0	0	0.006230	0	0
VEGFC	7424	broad.mit.edu	37	4	177608419	177608419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:177608419C>T	uc003ius.1	-	5	1497	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACATTTTCCAGGATTTAG	0.438000														132			51		0	0	0.014410	0	0
RANBP17	64901	broad.mit.edu	37	5	170640706	170640706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:170640706C>T	uc003mba.3	+	20	2445	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	RANBP17_uc003mbb.3_Missense_Mutation_p.P93L|RANBP17_uc003mbd.3_Missense_Mutation_p.P131L|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	768					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)			TGTACAACTCCCATCTTGAAA	0.418000			T	TRD@	ALL									78			101		0	0	0.014410	0	0
KIAA0430	9665	broad.mit.edu	37	16	15709850	15709850	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:15709850A>G	uc002ddr.3	-	15	3297	c.3090T>C	c.(3088-3090)tgT>tgC	p.C1030C	KIAA0430_uc002ddq.3_Silent_p.C864C|KIAA0430_uc010uzv.2_Silent_p.C1027C|KIAA0430_uc010uzw.2_Silent_p.C1030C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1029						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTGCAATGTAACAATCTGGAA	0.383000														106			39		0	0	0.010771	0	0
COL14A1	7373	broad.mit.edu	37	8	121259887	121259887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:121259887G>A	uc003yox.3	+	20	2780	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	COL14A1_uc003yoy.3_Missense_Mutation_p.E517K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	839	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGGGTGTCCGAGGAATGGTA	0.473000														50			19		0	0	0.008871	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651534	8651534	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8651534G>A	uc002mkj.1	-	19	2585	c.2311C>T	c.(2311-2313)Cta>Tta	p.L771L	ADAMTS10_uc002mki.1_Silent_p.L258L|ADAMTS10_uc002mkk.1_Silent_p.L403L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	771	Spacer.				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						GTCCCAGCTAGAGGCAGACGG	0.622000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		89			36		0	0	0.006230	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31125012	31125012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:31125012G>A	uc003tca.2	+	8	913	c.624G>A	c.(622-624)tgG>tgA	p.W208*	ADCYAP1R1_uc003tcg.3_Nonsense_Mutation_p.W208*|ADCYAP1R1_uc003tce.2_Nonsense_Mutation_p.W208*|ADCYAP1R1_uc003tcb.2_Nonsense_Mutation_p.W187*|ADCYAP1R1_uc003tcc.2_Nonsense_Mutation_p.W208*|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	208					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.W208C(2)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAAAGACTGGATTCTGTATG	0.547000														83			103		0	0	0.014410	0	0
TFCP2	7024	broad.mit.edu	37	12	51512486	51512486	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:51512486G>A	uc001rxw.3	-	1	913	c.192C>T	c.(190-192)atC>atT	p.I64I	TFCP2_uc001rxv.2_Silent_p.I64I|TFCP2_uc009zlx.2_Silent_p.I64I|TFCP2_uc009zly.1_5'UTR	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	64					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GAAAAGGCAGGATTTTATTCT	0.383000														58			24		0	0	0.003330	0	0
LRP2	4036	broad.mit.edu	37	2	170029621	170029621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:170029621C>T	uc002ues.3	-	56	11341	c.11128G>A	c.(11128-11130)Gat>Aat	p.D3710N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3710	LDL-receptor class A 30.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTGCTCATCACTGTTGTCC	0.498000														18			36		0	0	0.008740	0	0
ITGAM	3684	broad.mit.edu	37	16	31336715	31336715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:31336715C>T	uc002ebr.3	+	19	2596	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	ITGAM_uc002ebq.3_Missense_Mutation_p.S832F|ITGAM_uc010can.3_Missense_Mutation_p.S238F|ITGAM_uc002ebs.1_Missense_Mutation_p.S238F|ITGAM_uc010vfj.1_Non-coding_Transcript	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	832					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.T833T(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGAAGGTGTCCACGCTCCAG	0.562000														51			13		0	0	0.004007	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64599113	64599113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:64599113C>T	uc003dmg.3	-	21	3294	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	ADAMTS9_uc011bfo.2_Missense_Mutation_p.D1060N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D917N|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1088	TSP type-1 5.				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)		CACATTCTATCATTTAATCGA	0.517000														314			142		0	0	0.014410	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616567	1616567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:1616567C>T	uc003wpl.3	+	5	1740	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	DLGAP2_uc003wpm.3_Missense_Mutation_p.S548L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	627					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTCTGATCTCGGTGACGGCG	0.602000														10			6		0	0	0.001984	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146722	156146722	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156146722G>A	uc001fnl.3	+	14	2399	c.2220G>A	c.(2218-2220)aaG>aaA	p.K740K	SEMA4A_uc009wrq.3_Silent_p.K740K|SEMA4A_uc001fnm.3_Silent_p.K740K|SEMA4A_uc001fnn.3_Silent_p.K608K|SEMA4A_uc001fno.3_Silent_p.K740K	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	740					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTCTCCCAAGGAATGCAGGA	0.617000														57			28		0	0	0.010818	0	0
PLCD4	84812	broad.mit.edu	37	2	219487534	219487534	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:219487534G>A	uc021vwx.1	+	5	1044	c.705G>A	c.(703-705)caG>caA	p.Q235Q	PLCD4_uc002vik.1_Silent_p.Q82Q|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	235	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGAGGAGCAGAAGGAGAGAG	0.483000														31			92		0	0	0.014410	0	0
MAST1	22983	broad.mit.edu	37	19	12975917	12975917	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12975917G>C	uc002mvm.3	+	13	1691	c.1563G>C	c.(1561-1563)atG>atC	p.M521I		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	521	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTCCAAGATGGGGCTCATGA	0.572000														80			22		0	0	0.003330	0	0
FMN2	56776	broad.mit.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240370340C>T	uc010pye.2	+	5	2465	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	FMN2_uc010pyd.2_Missense_Mutation_p.S743L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572000														47			10		0	0	0.006214	0	0
IDO2	169355	broad.mit.edu	37	8	39872876	39872876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:39872876G>A	uc010lwy.1	+	10	1260	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.D81N|IDO2_uc003xnp.1_Missense_Mutation_p.D81N	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	327					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ATCTGGACAGGACCACTTGCT	0.522000														36			14		0	0	0.002450	0	0
PKHD1	5314	broad.mit.edu	37	6	51890878	51890878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:51890878C>T	uc003pah.1	-	31	4006	c.3730G>A	c.(3730-3732)Gag>Aag	p.E1244K	PKHD1_uc003pai.3_Missense_Mutation_p.E1244K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1244	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGCTCGCCTCCGTTAAGTTC	0.587000														48			22		0	0	0.003954	0	0
LYAR	55646	broad.mit.edu	37	4	4281220	4281220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:4281220G>A	uc011bvy.2	-	5	526	c.383C>T	c.(382-384)tCc>tTc	p.S128F	LYAR_uc011bvx.2_Missense_Mutation_p.S11F|LYAR_uc003ght.3_Missense_Mutation_p.S128F	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	128						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCCAGAATGGATTCATTATG	0.343000														38			21		0	0	0.003330	0	0
RNF111	54778	broad.mit.edu	37	15	59323125	59323125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:59323125G>A	uc002afv.3	+	1	383	c.104G>A	c.(103-105)gGg>gAg	p.G35E	RNF111_uc002afs.3_Missense_Mutation_p.G35E|RNF111_uc002aft.3_Missense_Mutation_p.G35E|RNF111_uc002afu.3_Missense_Mutation_p.G35E|RNF111_uc002afw.3_Missense_Mutation_p.G35E	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	35					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGTCTGAAAGGGATCCTTTTG	0.438000														38			16		0	0	0.003163	0	0
CDH6	1004	broad.mit.edu	37	5	31299719	31299719	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:31299719C>T	uc003jhe.2	+	4	1152	c.792C>T	c.(790-792)aaC>aaT	p.N264N	CDH6_uc003jhd.2_Silent_p.N264N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	264	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D263V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAACGACAACCCTCCCCGAT	0.428000														29			30		0	0	0.004289	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053711	95053711	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:95053711C>T	uc001ydm.2	+	2	222	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SERPINA5_uc010ave.2_Silent_p.F4F|SERPINA5_uc001ydn.1_Silent_p.F4F	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	4					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			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)	TGCAGCTCTTCCTCCTCTTGT	0.587000														38			38		0	0	0.009718	0	0
PYGL	5836	broad.mit.edu	37	14	51382199	51382199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:51382199G>A	uc001wyu.3	-	10	1385	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	PYGL_uc010tqq.2_Missense_Mutation_p.P386S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	420					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACATCTTTAGGAAACAAGGCC	0.458000														44			23		0	0	0.002780	0	0
SACS	26278	broad.mit.edu	37	13	23914341	23914341	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:23914341A>G	uc001uon.2	-	9	4263	c.3674T>C	c.(3673-3675)tTa>tCa	p.L1225S	SACS_uc001uoo.2_Missense_Mutation_p.L1078S|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.	1225					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)		aaagtgttttaagacagcact	0.358000														7			6		0	0	0.001168	0	0
FAM208B	54906	broad.mit.edu	37	10	5791322	5791322	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:5791322C>T	uc001iij.3	+	14	6563	c.5938C>T	c.(5938-5940)Ctg>Ttg	p.L1980L	FAM208B_uc001iik.3_Silent_p.L824L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1980																	CCTGGAGTATCTGCGTTTTGC	0.507000														24			28		0	0	0.006320	0	0
CD40LG	959	broad.mit.edu	37	X	135730413	135730413	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:135730413C>T	uc004faa.3	+	0	78	c.6C>T	c.(4-6)atC>atT	p.I2I	CD40LG_uc010nsd.3_Silent_p.I2I|CD40LG_uc010nse.1_5'Flank	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	2					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACAGCATGATCGAAACATACA	0.433000									Immune Deficiency with Hyper-IgM					15			27		0	0	0.007291	0	0
ZNF229	7772	broad.mit.edu	37	19	44934700	44934700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:44934700C>T	uc002oze.1	-	5	690	c.256G>A	c.(256-258)Gat>Aat	p.D86N	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.D80N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACTCCGTATCCTTTCCATTC	0.403000														33			6		0	0	0.001168	0	0
COL4A4	1286	broad.mit.edu	37	2	228012173	228012173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:228012173C>T	uc021vxr.1	-	0	128	c.27G>A	c.(25-27)atG>atA	p.M9I	COL4A4_uc021vxs.1_Missense_Mutation_p.M9I	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	9					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGCACCTCATTAGTACTA	0.428000														93			203		0	0	0.014410	0	0
ANGPT1	284	broad.mit.edu	37	8	108348391	108348391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:108348391G>A	uc003ymn.3	-	2	1030	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Missense_Mutation_p.H188Y	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	188					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTTTTTTCATGGATCTTCAAG	0.363000														22			7		0	0	0.004482	0	0
FUT7	2529	broad.mit.edu	37	9	139925167	139925167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:139925167C>T	uc004ckq.2	-	1	1873	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ABCA2_uc022bpy.1_5'Flank|ABCA2_uc022bpz.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.	342					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGATCTCAGGCCTGAAACCAA	0.617000														10			8		0	0	0.006214	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702856	46702856	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46702856T>C	uc001ndd.3	-	5	592	c.523A>G	c.(523-525)Aag>Gag	p.K175E		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	175	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)		ATGAGGGGCTTGAAGAGGATG	0.567000														75			24		0	0	0.007291	0	0
C12orf40	283461	broad.mit.edu	37	12	40114937	40114937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:40114937G>A	uc001rmc.3	+	12	2010	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	615										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CATACAGTGTGATCTAATTTC	0.408000														52			20		0	0	0.008871	0	0
RASA3	22821	broad.mit.edu	37	13	114751155	114751155	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:114751155A>G	uc001vui.3	-	22	2491	c.2360T>C	c.(2359-2361)gTt>gCt	p.V787A	RASA3_uc010tkk.2_Missense_Mutation_p.V755A|RASA3_uc001vuj.3_Missense_Mutation_p.V404A	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	787					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAAAGCCCCAACCCCAGCGAT	0.557000														47			63		0	0	0.014410	0	0
ROS1	6098	broad.mit.edu	37	6	117632270	117632270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117632270G>A	uc003pxp.1	-	38	6345	c.6146C>T	c.(6145-6147)cCt>cTt	p.P2049L	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2049	Protein kinase.				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)		GGTGAGTAAAGGACCATAAAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									57			29		0	0	0.005443	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356646	22356646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22356646C>T	uc021rph.1	+	1	409	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.P103S|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		AGACTCCCAGCCCAGTGATTC	0.507000														107			48		0	0	0.014410	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173892	103173892	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:103173892C>T	uc001phn.1	+	76	11331	c.11187C>T	c.(11185-11187)ccC>ccT	p.P3729P	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.P3722P	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3722	AAA 6 (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)		AAATTGAACCCATCTTGATAA	0.363000														25			20		0	0	0.008871	0	0
OAF	220323	broad.mit.edu	37	11	120099837	120099837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:120099837C>T	uc001pxb.3	+	3	1049	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	270										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGATGAGGATCCCTACCCAGG	0.647000														23			18		0	0	0.012319	0	0
ADH1B	125	broad.mit.edu	37	4	100237235	100237235	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:100237235C>T	uc003hus.4	-	4	471	c.387G>A	c.(385-387)agG>agA	p.R129R	ADH1B_uc003hut.4_Silent_p.R89R|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Silent_p.R89R	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	129					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGGTGAACCTCCTGGTGCCAT	0.542000														45			16		0	0	0.008871	0	0
abParts	0	broad.mit.edu	37	14	106586370	106586370	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106586370G>A	uc021ser.1	-	1811		c.33926C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCACAGGAGAGTCTCAGGGAC	0.552000														41			36		0	0	0.006999	0	0
CHPF2	54480	broad.mit.edu	37	7	150931226	150931226	+	Silent	SNP	C	T	T	rs143803281	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150931226C>T	uc003wjr.1	+	0	1642	c.129C>T	c.(127-129)gtC>gtT	p.V43V	CHPF2_uc003wjq.1_Silent_p.V35V	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	43						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATCCCTGTGTCGAGGCTGTAG	0.597000														63			27		0	0	0.008361	0	0
LYZL6	57151	broad.mit.edu	37	17	34263826	34263826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:34263826G>A	uc002hkj.2	-	2	510	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	LYZL6_uc002hkk.2_Missense_Mutation_p.P104S	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	104					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGGTTGGGATTCAGCAGA	0.572000														65			36		0	0	0.008740	0	0
BCL11A	53335	broad.mit.edu	37	2	60688537	60688537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:60688537C>T	uc002sae.1	-	3	1738	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	BCL11A_uc002sab.3_Missense_Mutation_p.E504K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E173K|BCL11A_uc010ypj.2_Missense_Mutation_p.E470K|BCL11A_uc002sad.1_Missense_Mutation_p.E352K|BCL11A_uc002saf.1_Missense_Mutation_p.E470K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	504	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCGTCAGctcctcctcctcc	0.667000			T	IGH@	B-CLL									47			86		0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	138413199	138413199	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:138413199C>T	uc002tva.1	+	20	3984	c.3984C>T	c.(3982-3984)atC>atT	p.I1328I	THSD7B_uc010zbj.1_Intron	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)		AGGACAGCATCCTGAAGCAGC	0.498000														8			20		0	0	0.002780	0	0
GML	2765	broad.mit.edu	37	8	143922605	143922605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:143922605C>T	uc003yxg.3	+	2	235	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	49	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P49Q(2)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAGAGTATGTCCGTATCATAT	0.453000														62			8		0	0	0.004482	0	0
KERA	11081	broad.mit.edu	37	12	91449866	91449866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:91449866C>T	uc001tbl.3	-	1	812	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	65	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCAGGAATTTCTTTGAGACCT	0.388000														43			21		0	0	0.010504	0	0
ERG	2078	broad.mit.edu	37	21	39774513	39774513	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:39774513T>A	uc010gnw.3	-	6	955	c.660A>T	c.(658-660)caA>caT	p.Q220H	ERG_uc021wjd.1_Missense_Mutation_p.Q220H|ERG_uc002yxa.3_Missense_Mutation_p.Q213H|ERG_uc011aek.2_Missense_Mutation_p.Q121H|ERG_uc010gnv.3_Missense_Mutation_p.Q121H|ERG_uc010gnx.3_Missense_Mutation_p.Q220H|ERG_uc011ael.2_Missense_Mutation_p.Q220H|ERG_uc002yxb.3_Missense_Mutation_p.Q220H|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.Q220H|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	220					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GTGGAGAGTTTTGTAAGGCTT	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									47			18		0	0	0.007413	0	0
SPOP	8405	broad.mit.edu	37	17	47685283	47685283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:47685283G>A	uc002ipg.3	-	6	964	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	SPOP_uc010dbk.3_Missense_Mutation_p.P223S|SPOP_uc002ipb.3_Missense_Mutation_p.P223S|SPOP_uc002ipc.3_Missense_Mutation_p.P223S|SPOP_uc002ipd.3_Missense_Mutation_p.P223S|SPOP_uc002ipe.3_Missense_Mutation_p.P223S|SPOP_uc002ipf.3_Missense_Mutation_p.P223S	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	223	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTAAAAACCGGAGAACGAGCT	0.408000										Prostate(2;0.17)				116			60		0	0	0.014410	0	0
NICN1	84276	broad.mit.edu	37	3	49466624	49466624	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49466624G>A	uc003cwz.1	-	0	134	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	NICN1_uc011bcr.2_Nonsense_Mutation_p.Q17*	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	17						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGCCCACCTGGAGGGCTACG	0.657000														21			15		0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141765190	141765190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:141765190C>T	uc003vwy.3	+	37	4594	c.4540C>T	c.(4540-4542)Ccc>Tcc	p.P1514S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1514	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)	CTCCACATTTCCCTCTTCTGG	0.612000														7			7		0	0	0.001984	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435605	7435605	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:7435605C>T	uc011bwj.2	-	0	1096	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	334	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TGATGCACTCCTTCGTGATAG	0.562000														81			32		0	0	0.009535	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611694	84611694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:84611694G>A	uc002bjz.4	+	18	2574	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.V784I	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	784	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAACAGAAGAGTCACCTGTCG	0.547000														36			14		0	0	0.001855	0	0
GNG2	54331	broad.mit.edu	37	14	52433367	52433367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:52433367C>T	uc001wzi.3	+	3	735	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P60S|GNG2_uc001wzj.3_Missense_Mutation_p.P60S|GNG2_uc001wzk.3_Missense_Mutation_p.P60S	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	60					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTCAGAAAACCCGTTTAGGGA	0.522000														88			37		0	0	0.007835	0	0
BC107108	0	broad.mit.edu	37	15	20362775	20362775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:20362775G>A	uc001yte.1	+	0	88	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		TGTTCCCTGTGAATTTGTGCA	0.483000														42			4		0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	3266994	3266994	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:3266994G>A	uc022aqr.1	-	12	2085	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	566	Sushi 3.					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)		GCTGACAGGTGATAACTCTCT	0.557000														13			6		0	0	0.001984	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327161	150327161	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150327161G>A	uc022apv.1	-	1	550	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	GIMAP6_uc003whn.3_Silent_p.L24L|GIMAP6_uc003whm.3_Silent_p.L24L	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	24							GTP binding	p.V23M(1)		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)		GACAGCTCCAGCACAGGATCC	0.458000														149			55		0	0	0.014410	0	0
GALT	2592	broad.mit.edu	37	9	34647892	34647892	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:34647892C>T	uc003zve.3	+	4	508	c.441C>T	c.(439-441)atC>atT	p.I147I	GALT_uc003zvf.3_Silent_p.I38I|GALT_uc011lop.1_Silent_p.I99I|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	147					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCCCTGAGATCCGGGCTGTTG	0.592000									Galactosemia					53			26		0	0	0.004656	0	0
SETX	23064	broad.mit.edu	37	9	135224736	135224736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:135224736G>A	uc004cbk.3	-	2	263	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	27					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAATTCACCGGACGGAGTGTT	0.488000														15			28		0	0	0.004656	0	0
ZNF334	55713	broad.mit.edu	37	20	45131369	45131369	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:45131369C>T	uc002xsa.3	-	3	1140	c.678G>A	c.(676-678)caG>caA	p.Q226Q	ZNF334_uc002xsb.3_Silent_p.Q165Q|ZNF334_uc002xsd.3_Silent_p.Q165Q|ZNF334_uc002xsc.3_Silent_p.Q203Q|ZNF334_uc010ghl.3_Silent_p.Q202Q			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	203					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)				GTTTCAAAATCTGAATGTTCT	0.363000														63			34		0	0	0.006230	0	0
MARC1	64757	broad.mit.edu	37	1	220971337	220971337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:220971337G>A	uc001hmt.3	+	3	982	c.734G>A	c.(733-735)gGa>gAa	p.G245E	MARC1_uc001hms.3_Missense_Mutation_p.G245E	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	245	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GTAATTTCAGGATGCGATGTC	0.423000														215			54		0	0	0.014410	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334627	69334628	+	Nonsense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:69334627_69334628AG>TA	uc003hdz.4	+	3	353_354	c.289_290AG>TA	c.(289-291)agg>TAg	p.R97*		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	97	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R97M(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ATCTCCATTAAGGGAAGAATTT	0.302000														124			49		0	0	0.004672	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404247	34404247	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:34404247G>A	uc002edv.1	-	0		c.516C>T								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TTTATCGTAAGGACTGGCTTC	0.512000														28			12		0	0	0.010729	0	0
OR2T1	26696	broad.mit.edu	37	1	248569764	248569764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248569764C>T	uc010pzm.2	+	0	469	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTTACCCTTGTGGGAGC	0.512000														163			42		0	0	0.009718	0	0
ABHD4	63874	broad.mit.edu	37	14	23072519	23072519	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23072519T>C	uc001wgm.3	+	2	406	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L	ABHD4_uc010tmz.1_Missense_Mutation_p.F113L|ABHD4_uc010tna.1_Missense_Mutation_p.F113L|ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	113					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AAGGCCAGCATTCCCAAGGGA	0.612000														34			17		0	0	0.006122	0	0
PRB1	5542	broad.mit.edu	37	12	11506687	11506687	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:11506687T>C	uc001qzw.1	-	2	387	c.350A>G	c.(349-351)aAg>aGg	p.K117R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	117	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region		p.K117R(2)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTTGTGGCTTTCCTGGAGG	0.612000														333			66		0	0	0.014410	0	0
PTAFR	5724	broad.mit.edu	37	1	28477200	28477200	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:28477200G>A	uc009vte.3	-	2	668	c.333C>T	c.(331-333)atC>atT	p.I111I	PTAFR_uc021ojz.1_Silent_p.I111I|PTAFR_uc001bpl.3_Silent_p.I111I|PTAFR_uc001bpm.4_Silent_p.I111I|PTAFR_uc021oka.1_Silent_p.I111I	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	111					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTATAAGTGATGACGCCCA	0.547000														60			27		0	0	0.004656	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														73			11		0	0	0.013537	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946201	21946201	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:21946201G>A	uc010kuk.3	-	4	858	c.738C>T	c.(736-738)acC>acT	p.T246T	CDCA7L_uc003sve.4_Silent_p.T212T|CDCA7L_uc010kul.3_Silent_p.T200T|CDCA7L_uc003svf.4_Silent_p.T245T	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	246					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.R245*(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						CTGAGGTTGGGGTTCGTACTG	0.423000														168			38		0	0	0.009718	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749330	8749330	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:8749330G>A	uc003wsj.1	-	0	1802	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	413	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCCCCATCAGGAGCAGCTTGA	0.622000														45			23		0	0	0.003330	0	0
OR13G1	441933	broad.mit.edu	37	1	247836013	247836013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247836013G>A	uc001idi.1	-	0	331	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L111I(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGGTGAAGAGAACCATCTCA	0.468000														40			18		0	0	0.008871	0	0
TEKT5	146279	broad.mit.edu	37	16	10721525	10721525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:10721525G>A	uc002czz.1	-	6	1445	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	458					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GAGGGTGTTGGCCTTGATGGC	0.657000														47			27		0	0	0.005443	0	0
GMPPB	29925	broad.mit.edu	37	3	49759379	49759379	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49759379G>A	uc003cxl.1	-	7	1195	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Intron	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	317					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	p.V323V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCCACCCAGCCCAGCCCAC	0.657000														40			19		0	0	0.008871	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213760	3213760	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:3213760C>T	uc002fvi.2	+	0	222	c.156C>T	c.(154-156)atC>atT	p.I52I						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TGGCGGCCATCCTTATGGAAA	0.547000														44			25		0	0	0.003954	0	0
LCE3D	84648	broad.mit.edu	37	1	152552341	152552341	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152552341C>T	uc021oza.1	-	0	72	c.72G>A	c.(70-72)aaG>aaA	p.K24K	LCE3D_uc001fab.3_Silent_p.K24K	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	24					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GTACTGGGCTCTTTGGGGGAC	0.617000														90			62		0	0	0.014410	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:111887770C>T	uc003dyu.3	-	24	3413	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_uc011bhu.2_Missense_Mutation_p.R327Q|SLC9C1_uc010hqc.3_Missense_Mutation_p.R1016Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1064					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323000														32			34		0	0	0.008740	0	0
SNUPN	10073	broad.mit.edu	37	15	75890927	75890927	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:75890927G>A	uc002ban.3	-	8	945	c.855C>T	c.(853-855)gtC>gtT	p.V285V	SNUPN_uc002bap.3_Silent_p.V327V|SNUPN_uc002baq.3_Silent_p.V285V|SNUPN_uc002bar.3_Silent_p.V285V|SNUPN_uc002bas.3_Silent_p.V285V	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	285	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTACACCAAGGACATCTGACA	0.572000														188			76		0	0	0.014410	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33410236	33410236	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:33410236C>T	uc011dri.2	+	13	2496	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	SYNGAP1_uc010juy.3_Intron|SYNGAP1_uc010juz.3_Silent_p.I479I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	767					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCAGCTCCATCGACCTTCAGT	0.592000														129			46		0	0	0.014410	0	0
SREBF2	6721	broad.mit.edu	37	22	42280955	42280955	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:42280955C>T	uc003bbi.3	+	10	2317	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	716					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGGTTGAGATCCATCTGACTG	0.587000														36			12		0	0	0.002450	0	0
CA11	770	broad.mit.edu	37	19	49142225	49142225	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:49142225A>C	uc002pjz.1	-	7	1443	c.881T>G	c.(880-882)tTg>tGg	p.L294W	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	294						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		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;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		CCTGTGGGCCAAGGGCTGCAG	0.652000														21			10		0	0	0.006214	0	0
TCRA	0	broad.mit.edu	37	14	22694674	22694674	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:22694674G>A	uc010ajp.1	+	0	63	c.18G>A	c.(16-18)caG>caA	p.Q6Q	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_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_5'Flank					SubName: Full=HADV36S1; Flags: Fragment;																		AGTGTCCACAGGCTTTACTAG	0.433000														23			15		0	0	0.004990	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:59283138C>T	uc010rkv.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000														132			76		0	0	0.014410	0	0
EYA4	2070	broad.mit.edu	37	6	133802735	133802735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:133802735G>A	uc011ecs.2	+	11	1439	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	EYA4_uc011ecq.2_Missense_Mutation_p.E315K|EYA4_uc011ecr.2_Missense_Mutation_p.E321K|EYA4_uc003qec.4_Missense_Mutation_p.E369K|EYA4_uc003qed.4_Missense_Mutation_p.E369K|EYA4_uc003qee.4_Missense_Mutation_p.E346K|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	369					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAGTGACCTGGAGGTATGCCT	0.398000														46			28		0	0	0.007291	0	0
TREML4	285852	broad.mit.edu	37	6	41196694	41196694	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41196694T>G	uc003oqc.3	+	1	410	c.306T>G	c.(304-306)aaT>aaG	p.N102K	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	102	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGACACAGAATGACTCGGGAT	0.473000														77			33		0	0	0.012213	0	0
AQP9	366	broad.mit.edu	37	15	58465319	58465319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:58465319G>A	uc002aez.2	+	2	648	c.291G>A	c.(289-291)atG>atA	p.M97I	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.M32I	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	97					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.R96L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTGGACGGATGAAATGGTTCA	0.478000														173			76		0	0	0.014410	0	0
OR52M1	119772	broad.mit.edu	37	11	4566561	4566561	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4566561C>T	uc010qyf.2	+	0	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGACCATCCTGGCTGTGG	0.547000														65			28		0	0	0.006320	0	0
CFHR5	81494	broad.mit.edu	37	1	196967406	196967406	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196967406G>A	uc001gts.4	+	6	1247	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	373	Sushi 6.				complement activation, alternative pathway	extracellular region		p.N372N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTATAAACGGGAAATGGAATC	0.323000														57			13		0	0	0.003163	0	0
MADD	8567	broad.mit.edu	37	11	47330880	47330880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:47330880C>T	uc001ner.1	+	26	4171	c.3980C>T	c.(3979-3981)gCc>gTc	p.A1327V	MADD_uc001neq.2_Missense_Mutation_p.A1268V|MADD_uc001nev.1_Missense_Mutation_p.A1225V|MADD_uc001nes.1_Missense_Mutation_p.A1245V|MADD_uc001net.1_Missense_Mutation_p.A1288V|MADD_uc009yln.1_Missense_Mutation_p.A1221V|MADD_uc001neu.1_Missense_Mutation_p.A1225V|MADD_uc001nez.2_Missense_Mutation_p.A1224V|MADD_uc001new.2_Missense_Mutation_p.A1267V|MADD_uc001nex.2_Missense_Mutation_p.A1327V|MADD_uc009ylo.3_Missense_Mutation_p.A241V	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1327					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)		TGGGAAGATGCCTTCTTAGAT	0.443000														40			22		0	0	0.002780	0	0
CFHR5	81494	broad.mit.edu	37	1	196973903	196973903	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196973903C>T	uc001gts.4	+	8	1571	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	481	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCCAGTCCTTCTATAAACTCC	0.443000														61			51		0	0	0.014410	0	0
TBX20	57057	broad.mit.edu	37	7	35244178	35244178	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:35244178G>A	uc011kas.2	-	6	1387	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	303						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTTTGAATCAGGCTCTCCACA	0.453000														52			15		0	0	0.006122	0	0
LOC728989	728989	broad.mit.edu	37	1	146491186	146491186	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:146491186C>T	uc001epd.2	-	5	785	c.711G>A	c.(709-711)aaG>aaA	p.K237K						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		GGCTGCACTTCTTGCATGGTT	0.502000														24			12		0	0	0.010729	0	0
MIA3	375056	broad.mit.edu	37	1	222826654	222826654	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:222826654G>C	uc001hnl.3	+	14	4303	c.4294G>C	c.(4294-4296)Gat>Cat	p.D1432H	MIA3_uc009xea.1_Missense_Mutation_p.D1209H|MIA3_uc001hnm.3_Missense_Mutation_p.D310H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1432					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)		AAATGATTCAGATGAATTAGC	0.413000														297			180		0	0	0.014410	0	0
OR2G6	391211	broad.mit.edu	37	1	248685747	248685747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248685747C>T	uc001ien.1	+	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATAGGAGATCCAAAAACCAG	0.443000														119			29		0	0	0.012213	0	0
ACAP3	116983	broad.mit.edu	37	1	1237424	1237424	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:1237424G>A	uc001aeb.2	-	4	356	c.282C>T	c.(280-282)atC>atT	p.I94I	ACAP3_uc001aea.2_Silent_p.I52I|ACAP3_uc001aec.1_Silent_p.I52I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	94				I -> N (in Ref. 5; AAH51194).	filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGTCAAACAGGATCTGGGGGC	0.652000														64			29		0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179597678	179597678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179597678C>T	uc021vsy.1	-	51	12718	c.12493G>A	c.(12493-12495)Gaa>Aaa	p.E4165K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E826K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5092							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)			GCTGTGCCTTCCACAAATGCT	0.483000														13			27		0	0	0.004656	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737326	62737326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:62737326C>T	uc011abt.2	-	0	859	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	287						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGGGGCAGGTCCGTGGTCAGG	0.637000														39			17		0	0	0.010504	0	0
LMX1B	4010	broad.mit.edu	37	9	129453146	129453146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:129453146G>A	uc011maa.2	+	2	365	c.358G>A	c.(358-360)Gag>Aag	p.E120K	LMX1B_uc004bqi.3_Missense_Mutation_p.E120K|LMX1B_uc004bqj.3_Missense_Mutation_p.E120K	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	97	LIM zinc-binding 2.		C -> S (in NPS).		dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGGCTGCATGGAGAAGATCGC	0.657000									Nail-Patella Syndrome					6			4		0	0	0.000602	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	C	C	rs2227841	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:9784028T>C	uc003gmb.4	+	0	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	125					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622000														31			4		0	0	0.009096	0	0
PRB4	5545	broad.mit.edu	37	12	11461474	11461474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:11461474C>T	uc001qzf.1	-	2	477	c.443G>A	c.(442-444)gGa>gAa	p.G148E	PRB4_uc001qzt.3_Missense_Mutation_p.G148E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTACCTCCTTGTGGGGG	0.607000										HNSCC(22;0.051)				198			74		0	0	0.014410	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973485	29973485	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:29973485T>C	uc004dby.2	+	10	2147	c.1639T>C	c.(1639-1641)Ttg>Ctg	p.L547L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	547	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATGCAACAAGTTGAACTCCAA	0.453000														11			8		0	0	0.006214	0	0
RYR1	6261	broad.mit.edu	37	19	38979973	38979973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:38979973G>A	uc002oit.3	+	34	5834	c.5704G>A	c.(5704-5706)Gaa>Aaa	p.E1902K	RYR1_uc002oiu.3_Missense_Mutation_p.E1902K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1902	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aacagcacaggaaaaggaaga	0.522000														25			13		0	0	0.001855	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455147	74455147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:74455147G>A	uc002fct.3	-	0	222	c.22C>T	c.(22-24)Cct>Tct	p.P8S	CLEC18B_uc002fcu.3_Missense_Mutation_p.P8S|CLEC18B_uc010vmu.1_Missense_Mutation_p.P8S|CLEC18B_uc010vmw.1_Missense_Mutation_p.P8S	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	8						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCCGGCCAGGGGAGGTCTCT	0.682000														40			21		0	0	0.012319	0	0
TRPM6	140803	broad.mit.edu	37	9	77365608	77365608	+	Silent	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:77365608T>G	uc004ajl.1	-	29	5267	c.5029A>C	c.(5029-5031)Agg>Cgg	p.R1677R	TRPM6_uc004ajk.1_Silent_p.R1672R|TRPM6_uc022bib.1_Silent_p.R1672R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.R628R|TRPM6_uc010mpd.1_Silent_p.R510R|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.R633R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1677					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGTGCTCCTGGAATTCCAC	0.418000														32			21		0	0	0.014323	0	0
OR6C75	390323	broad.mit.edu	37	12	55758919	55758919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:55758919G>A	uc010spk.2	+	0	25	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGCAGTAACAGACTTTATTCT	0.353000														82			44		0	0	0.014410	0	0
CUZD1	50624	broad.mit.edu	37	10	124595698	124595698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124595698C>T	uc001lgs.3	-	7	1937	c.986G>A	c.(985-987)aGa>aAa	p.R329K	CUZD1_uc001lgp.3_Missense_Mutation_p.R48K|CUZD1_uc009yad.3_Missense_Mutation_p.R48K|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_Missense_Mutation_p.R48K|CUZD1_uc010qty.2_Missense_Mutation_p.R48K|CUZD1_uc009yae.3_Missense_Mutation_p.R48K|CUZD1_uc010qtz.2_Missense_Mutation_p.R329K	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	329	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTACCTTTCTGATTGTACC	0.388000														36			29		0	0	0.013726	0	0
CYFIP2	26999	broad.mit.edu	37	5	156760372	156760372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:156760372C>T	uc021ygm.1	+	20	2438	c.2300C>T	c.(2299-2301)aCc>aTc	p.T767I	CYFIP2_uc011ddn.2_Missense_Mutation_p.T742I|CYFIP2_uc011ddo.2_Missense_Mutation_p.T572I|CYFIP2_uc021ygn.1_Missense_Mutation_p.T767I|CYFIP2_uc021ygo.1_Missense_Mutation_p.T767I|CYFIP2_uc003lwt.3_Missense_Mutation_p.T671I|CYFIP2_uc011ddp.2_Missense_Mutation_p.T502I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	793					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.T793I(2)|p.T768I(1)		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)			AGACTCATTACCCAGCGCATC	0.483000														350			18		0	0	0.004990	0	0
DSC3	1825	broad.mit.edu	37	18	28584168	28584168	+	Missense_Mutation	SNP	C	T	T	rs138482790		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28584168C>T	uc002kwj.4	-	12	2208	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R	DSC3_uc002kwi.4_Missense_Mutation_p.G685R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	685	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGTATTACTCCTGTACTCCTT	0.373000														54			29		0	0	0.013726	0	0
COL10A1	1300	broad.mit.edu	37	6	116441754	116441754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:116441754G>A	uc003pwm.3	-	2	1621	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	509	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGCCCAGGGGGCCCTGGAAGA	0.622000														30			13		0	0	0.003163	0	0
MON1A	84315	broad.mit.edu	37	3	49949036	49949036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49949036G>A	uc003cxz.3	-	2	953	c.827C>T	c.(826-828)tCc>tTc	p.S276F	MON1A_uc003cya.3_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	179							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATAGTGCTGGAAAGTGCCTC	0.592000														42			23		0	0	0.002780	0	0
A2M	2	broad.mit.edu	37	12	9230360	9230360	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:9230360G>A	uc001qvk.1	-	25	3326	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	A2M_uc009zgk.1_Silent_p.S921S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1071					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)	TCTGCCTCTGGGAGAGCCATA	0.478000														48			33		0	0	0.006230	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:42299711C>T	uc021wwk.1	-	2	354	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_uc003cld.1_Missense_Mutation_p.R76Q	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000														56			30		0	0	0.006230	0	0
ITLN2	142683	broad.mit.edu	37	1	160920382	160920382	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:160920382G>A	uc001fxd.3	-	4	619	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ITLN2_uc009wts.3_Silent_p.F186F|ITLN2_uc010pju.2_Silent_p.F104F	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	187	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTCTGGAGGAAGCCAGTGT	0.567000														129			78		0	0	0.014410	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36226075	36226076	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:36226075_36226076GG>AA	uc001wtj.3	-	6	977_978	c.586_587CC>TT	c.(586-588)cca>TTa	p.P196L	RALGAPA1_uc001wti.3_Missense_Mutation_p.P196L|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P196L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P196L|RALGAPA1_uc001wtk.1_Missense_Mutation_p.P47L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	196					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGATTGTGGGGGGACAAGA	0.317000														65			24		0	0	0.004672	0	0
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158549611C>T	uc010pin.2	-	0	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363000														169			35		0	0	0.003271	0	0
DMBT1	1755	broad.mit.edu	37	10	124399765	124399765	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124399765G>A	uc001lgk.1	+	51	6871	c.6765G>A	c.(6763-6765)gtG>gtA	p.V2255V	DMBT1_uc001lgl.1_Silent_p.V2245V|DMBT1_uc001lgm.1_Silent_p.V1627V|DMBT1_uc021qaf.1_Silent_p.V2255V|DMBT1_uc021qag.1_Silent_p.V2245V|DMBT1_uc021qah.1_Silent_p.V1627V|DMBT1_uc009xzz.1_Silent_p.V2254V|DMBT1_uc010qtx.1_Silent_p.V975V|DMBT1_uc009yab.1_Silent_p.V958V|DMBT1_uc009yac.1_Silent_p.V549V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2255	ZP.		V -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTTTGACGTGAACATTTCCT	0.468000														52			40		0	0	0.004878	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101782	46101782	+	Missense_Mutation	SNP	C	T	T	rs138110019		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46101782C>T	uc002zfv.3	-	0	297	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	86	14 X 5 AA approximate repeats.					keratin filament		p.R86K(2)		kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGATGGGTCTGCAGAGGAC	0.637000														48			21		0	0	0.014323	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160459	160459	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrGL000192.1:160459C>T	uc010yih.1	-	11		c.1963G>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)				ATTTTCCTTTCGATTGTCTCC	0.428000														78			53		0	0	0.014410	0	0
ZBTB16	7704	broad.mit.edu	37	11	114027098	114027098	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:114027098C>T	uc001pop.3	+	2	1572	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	ZBTB16_uc001poo.1_Silent_p.L436L|ZBTB16_uc001poq.3_Silent_p.L436L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	436					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGTGCGAGCTCTGCGGGAAGC	0.557000														17			22		0	0	0.007291	0	0
THSD7B	80731	broad.mit.edu	37	2	138421074	138421074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:138421074G>A	uc002tva.1	+	24	4490	c.4490G>A	c.(4489-4491)gGg>gAg	p.G1497E	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)		AACCTTTCTGGGAAAAACAGA	0.363000														4			9		0	0	0.004482	0	0
LRP4	4038	broad.mit.edu	37	11	46916738	46916738	+	Missense_Mutation	SNP	G	A	A	rs140528156		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46916738G>A	uc001ndn.4	-	10	1531	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	430	EGF-like 2; calcium-binding (Potential).				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCTGCGCCGGTCGGGCCGT	0.607000														40			20		0	0	0.008871	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264903	47264903	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47264903C>T	uc001cqn.4	+	0	234	c.150C>T	c.(148-150)ccC>ccT	p.P50P	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.P50P|CYP4B1_uc009vym.3_Silent_p.P50P|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	50					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)					CAGGGCCTCCCACCCACTGGC	0.547000														11			4		0	0	0.009096	0	0
GALNT8	26290	broad.mit.edu	37	12	4873136	4873136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:4873136G>A	uc001qne.1	+	8	1608	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	506	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTATTGGATGAAAATGTCTG	0.493000														61			22		0	0	0.002780	0	0
ZNF292	23036	broad.mit.edu	37	6	87970318	87970318	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:87970318G>T	uc003plm.4	+	7	7012	c.6971G>T	c.(6970-6972)gGa>gTa	p.G2324V		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCAGATGTGGAAAGGAAGGA	0.373000														27			14		3.27435e-08	3.43502e-08	0.002450	1	0
APOB	338	broad.mit.edu	37	2	21250807	21250807	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21250807T>A	uc002red.3	-	13	2088	c.1960A>T	c.(1960-1962)Aaa>Taa	p.K654*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	654	Vitellogenin.				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)	CCTTCTATTTTGGCTGAGGCT	0.403000														170			360		0	0	0.014410	0	0
FAM73A	374986	broad.mit.edu	37	1	78309071	78309071	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:78309071T>C	uc010ork.2	+	7	1007	c.975T>C	c.(973-975)gaT>gaC	p.D325D	FAM73A_uc001dhx.3_Silent_p.D325D|FAM73A_uc010orl.2_Silent_p.D287D|FAM73A_uc001dhy.1_Silent_p.D114D	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	325						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATCCACGGATTCCTTTGCTT	0.403000														49			29		0	0	0.013726	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871725	63871725	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:63871725C>T	uc003jtj.3	+	2	457	c.457C>T	c.(457-459)Cga>Tga	p.R153*	RGS7BP_uc011cqu.2_Nonsense_Mutation_p.R20*	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	153					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.R153*(2)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TCAGTTTCATCGAAAAGGTAT	0.393000														25			43		0	0	0.014410	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103039681	103039681	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:103039681G>T	uc001phn.1	+	31	5104	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Nonsense_Mutation_p.E1654*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1654	AAA 1 (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)		GTATACTTATGAATATCAGGT	0.279000														21			15		1.62849e-17	1.71586e-17	0.004007	1	0
PARVB	29780	broad.mit.edu	37	22	44514984	44514984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:44514984G>A	uc003bem.3	+	4	569	c.439G>A	c.(439-441)Gac>Aac	p.D147N	PARVB_uc003ben.3_Missense_Mutation_p.D114N|PARVB_uc010gzn.3_Missense_Mutation_p.D62N|PARVB_uc003beo.3_Missense_Mutation_p.D77N	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	114	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCTGGAGGAAGACCTGTATGA	0.602000														106			44		0	0	0.014410	0	0
C4BPB	725	broad.mit.edu	37	1	207273196	207273196	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207273196G>A	uc009xcd.3	+	6	1154	c.834G>A	c.(832-834)aaG>aaA	p.K278K	C4BPB_uc001hfi.3_Silent_p.K226K|C4BPB_uc001hfj.3_Silent_p.K227K|C4BPB_uc001hfl.3_Silent_p.K227K|C4BPB_uc001hfk.3_Silent_p.K226K|C4BPB_uc001hfm.3_Silent_p.K227K	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	227					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AACAATTAAAGGAAAGTGGCA	0.393000														139			26		0	0	0.006320	0	0
ITGAX	3687	broad.mit.edu	37	16	31383821	31383821	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:31383821C>T	uc002ebt.3	+	17	2350	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	ITGAX_uc002ebu.1_Silent_p.F761F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	761					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						AGAGATACTTCACGGCCTCCG	0.632000														32			19		0	0	0.007413	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453074	64453074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:64453074G>A	uc011kdr.2	-	1	925	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.P111S	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	111						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttgccagagggaaataccttg	0.443000														22			16		0	0	0.006122	0	0
ZIM3	114026	broad.mit.edu	37	19	57646872	57646872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:57646872G>A	uc002qnz.1	-	4	1219	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		ACACTGATAGGATTTCTTGGC	0.373000														74			50		0	0	0.014410	0	0
AMPD1	270	broad.mit.edu	37	1	115218587	115218587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115218587C>T	uc001efe.2	-	10	1573	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R	AMPD1_uc001eff.2_Missense_Mutation_p.G505R	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	476					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	AGCATTTTTCCAAAATGTGGA	0.428000														73			73		0	0	0.014410	0	0
SLC13A2	9058	broad.mit.edu	37	17	26823577	26823577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:26823577C>T	uc010wan.2	+	10	1794	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	SLC13A2_uc010wam.2_Missense_Mutation_p.S483F|SLC13A2_uc002hbh.3_Missense_Mutation_p.S527F|SLC13A2_uc010wao.2_Missense_Mutation_p.S484F|SLC13A2_uc002hbi.3_Missense_Mutation_p.S456F	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	527						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATCGTCTTCTCTTTCGGGGAC	0.557000														42			22		0	0	0.003954	0	0
ZNF182	7569	broad.mit.edu	37	X	47836115	47836115	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:47836115G>A	uc004dir.3	-	6	1717	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	ZNF182_uc004dis.3_Silent_p.P438P|ZNF182_uc004dit.3_Silent_p.P457P	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TACATTCAAAGGGTTTCTCTC	0.423000														12			26		0	0	0.006320	0	0
XPO7	23039	broad.mit.edu	37	8	21842176	21842176	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:21842176C>T	uc003xaa.4	+	11	1399	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	433				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGAAGATCCCCTGGAGGATAC	0.502000														20			9		0	0	0.004482	0	0
P2RY10	27334	broad.mit.edu	37	X	78217006	78217006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:78217006G>A	uc022bzl.1	+	0	989	c.989G>A	c.(988-990)aGc>aAc	p.S330N	P2RY10_uc004ede.3_Missense_Mutation_p.S330N|P2RY10_uc004edf.3_Missense_Mutation_p.S330N	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	330						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGCCTCATGAGCAAGGAGAGT	0.428000														18			41		0	0	0.014410	0	0
OR12D3	81797	broad.mit.edu	37	6	29342328	29342328	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:29342328A>C	uc003nme.3	-	0	741	c.737T>G	c.(736-738)gTg>gGg	p.V246G		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	246					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						AAGACATACCACCATAAAATG	0.473000														31			9		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9063943	9063943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9063943C>T	uc002mkp.3	-	2	23707	c.23503G>A	c.(23503-23505)Gag>Aag	p.E7835K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7837	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						CCGCTGGACTCCCTCAATCCA	0.542000														39			14		0	0	0.003163	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209195	71209195	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:71209195C>T	uc001xmm.3	-	5	1440	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	MAP3K9_uc010ttk.2_Silent_p.L217L|MAP3K9_uc001xmk.3_Silent_p.L174L|MAP3K9_uc001xml.3_Silent_p.L480L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	480	Leucine-zipper 2.				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)		GCTCCCGTTCCAGGATGTCAA	0.622000														36			12		0	0	0.013537	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:75078435G>A	uc001dgg.3	-	8	1278	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.F147F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGA	0.423000														36			19		0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113662432	113662432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:113662432C>T	uc003ynu.3	-	18	3310	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	CSMD3_uc003yns.3_Missense_Mutation_p.E323K|CSMD3_uc003ynt.3_Missense_Mutation_p.E1011K|CSMD3_uc011lhx.2_Missense_Mutation_p.E947K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1051	Sushi 5.					integral to membrane|plasma membrane		p.E1051K(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						TGGTTTTTTTCGCATAGAAGG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				76			26		0	0	0.003330	0	0
EPRS	2058	broad.mit.edu	37	1	220162035	220162035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:220162035G>A	uc001hly.1	-	18	2942	c.2672C>T	c.(2671-2673)tCt>tTt	p.S891F	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.S642F|EPRS_uc001hlz.1_Missense_Mutation_p.S898F	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	891	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AGCAGGTTCAGAATTTCTGGT	0.433000														103			66		0	0	0.014410	0	0
OR4N4	283694	broad.mit.edu	37	15	22382823	22382823	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:22382823G>A	uc001yuc.1	+	6	1332	c.351G>A	c.(349-351)gtG>gtA	p.V117V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V117V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTTGTTGTGATGGCCTTTG	0.507000														103			17		0	0	0.002780	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871368	57871368	+	Silent	SNP	G	A	A	rs148589826		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:57871368G>A	uc001sod.3	-	6	1036	c.843C>T	c.(841-843)tgC>tgT	p.C281C	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Silent_p.C26C|ARHGAP9_uc001soa.3_5'UTR|ARHGAP9_uc001sob.3_Silent_p.C210C|ARHGAP9_uc001soc.3_Silent_p.C210C|ARHGAP9_uc001soe.1_Silent_p.C289C|ARHGAP9_uc010sro.1_Silent_p.C210C	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCAGCAGGGGGCATGCAGGGC	0.642000														50			32		0	0	0.012213	0	0
PALLD	23022	broad.mit.edu	37	4	169632881	169632881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169632881G>A	uc011cjx.2	+	9	1982	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	PALLD_uc003iru.3_Missense_Mutation_p.E591K|PALLD_uc003irv.3_Missense_Mutation_p.E209K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	591					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAACAACCCTGAGTTAGGCCT	0.507000									Pancreatic Cancer, Familial Clustering of					57			24		0	0	0.007291	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118049	118049	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrGL000205.1:118049C>T	uc002kgk.4	+	0		c.1427C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGAGTCGGAGCCCTTTAGTTT	0.577000														52			4		0	0	0.009096	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	A	A	rs141225150	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:55136058G>A	uc010rif.2	+	0	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000														55			33		0	0	0.003755	0	0
FLG	2312	broad.mit.edu	37	1	152283696	152283696	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152283696C>T	uc001ezu.1	-	2	3702	c.3666G>A	c.(3664-3666)aaG>aaA	p.K1222K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1222	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ATTGTTTGTCCTTACGAGTTT	0.567000									Ichthyosis					293			204		0	0	0.014410	0	0
UNC79	57578	broad.mit.edu	37	14	94158208	94158208	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94158208C>T	uc001ybv.1	+	44	7121	c.7038C>T	c.(7036-7038)ttC>ttT	p.F2346F	UNC79_uc001ybs.1_Silent_p.F2324F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2501						integral to membrane				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						AGAATGAATTCAGCTTCACGG	0.478000														44			48		0	0	0.014410	0	0
THSD1	55901	broad.mit.edu	37	13	52952660	52952660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:52952660C>T	uc001vgo.3	-	4	1990	c.1445G>A	c.(1444-1446)gGa>gAa	p.G482E	THSD1_uc001vgp.3_Missense_Mutation_p.G429E|THSD1_uc010tgz.2_Missense_Mutation_p.G103E	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	482						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGGCCCGTCTCCCCCATCCGA	0.657000														28			18		0	0	0.008871	0	0
CD84	8832	broad.mit.edu	37	1	160523816	160523817	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:160523816_160523817GG>AA	uc001fwh.4	-	2	587_588	c.508_509CC>TT	c.(508-510)ccc>TTc	p.P170F	CD84_uc001fwf.4_Missense_Mutation_p.P170F|CD84_uc009wtn.3_Missense_Mutation_p.P170F|CD84_uc001fwi.4_Missense_Mutation_p.P56F|CD84_uc001fwg.4_Missense_Mutation_p.P170F|CD84_uc001fwj.3_Missense_Mutation_p.P170F|CD84_uc001fwk.3_Missense_Mutation_p.P170F	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	170	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTCCCAGGGGACTCCAATTG	0.446000														133			30		0	0	0.004672	0	0
GUCY2C	2984	broad.mit.edu	37	12	14813932	14813932	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:14813932G>A	uc001rcd.3	-	10	1484	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	449					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						TCAGGAGAGCGACGAGCAGGA	0.547000														72			31		0	0	0.006230	0	0
C6orf170	221322	broad.mit.edu	37	6	121412005	121412005	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:121412005G>A	uc003pyo.1	-	30	3716	c.3648C>T	c.(3646-3648)ttC>ttT	p.F1216F		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1216	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TTACTTTTAGGAAAACTTGCA	0.333000														83			31		0	0	0.012213	0	0
PGK2	5232	broad.mit.edu	37	6	49754498	49754498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:49754498G>A	uc003ozu.3	-	0	556	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	135					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)					TTTCCAGAGGGATCTTGGCCC	0.507000														69			36		0	0	0.004289	0	0
BTBD1	53339	broad.mit.edu	37	15	83699002	83699002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:83699002C>T	uc002bjn.3	-	4	1144	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	BTBD1_uc002bjo.3_Missense_Mutation_p.R314Q	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	314						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATTCAACTCGGGGTTTAGG	0.448000														127			67		0	0	0.014410	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316508	38316508	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38316508G>A	uc003chz.3	+	3	720	c.666G>A	c.(664-666)agG>agA	p.R222R	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.R222R	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	222						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CCTCATGGAGGACGCAGGCCG	0.597000														82			41		0	0	0.008740	0	0
RASSF3	283349	broad.mit.edu	37	12	65088588	65088588	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:65088588T>C	uc001ssd.3	+	4	733	c.613T>C	c.(613-615)Ttg>Ctg	p.L205L	RASSF3_uc009zqn.3_Non-coding_Transcript|RASSF3_uc001sse.3_Silent_p.L135L	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 3 (RASSF3), transcript variant 1, mRNA.	205	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		CTTGCGCATCTTGGACAAGGA	0.478000														46			23		0	0	0.003330	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:98164976G>A	uc001drv.3	-	5	748	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	204					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCAAAAAGGAAGCACAACT	0.393000														75			29		0	0	0.009535	0	0
MYH1	4619	broad.mit.edu	37	17	10399694	10399694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10399694C>T	uc002gmo.3	-	33	4923	c.4829G>A	c.(4828-4830)aGg>aAg	p.R1610K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1610						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						ATTCCTGCTCCTGATCTCAGC	0.473000														52			63		0	0	0.014410	0	0
OR4C3	256144	broad.mit.edu	37	11	48347299	48347299	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48347299C>T	uc010rhv.2	+	0	807	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	242					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						GAGCCCACTTCATTGTTGTTG	0.438000														83			27		0	0	0.006320	0	0
ODZ4	26011	broad.mit.edu	37	11	78443603	78443603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:78443603C>T	uc001ozl.4	-	20	3359	c.2896G>A	c.(2896-2898)Ggc>Agc	p.G966S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	966					signal transduction	integral to membrane		p.G966G(1)		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						GAGATGCCGCCATTTGTCACC	0.542000														20			10		0	0	0.006214	0	0
EP400	57634	broad.mit.edu	37	12	132522320	132522320	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:132522320C>T	uc001ujn.3	+	30	6197	c.6045C>T	c.(6043-6045)tcC>tcT	p.S2015S	EP400_uc021rgq.1_Silent_p.S2014S|EP400_uc001ujm.3_Silent_p.S1934S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2051	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.M2015V(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATGACTACTCCATGGCTTTCT	0.473000														36			8		0	0	0.003080	0	0
MAP2	4133	broad.mit.edu	37	2	210557362	210557362	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:210557362C>T	uc002vde.1	+	6	716	c.468C>T	c.(466-468)gcC>gcT	p.A156A	MAP2_uc002vdc.1_Silent_p.A156A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Splice_Site_p.A152_splice	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	156					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)	TACTTACAGCCTCGAAGATGG	0.393000														18			28		0	0	0.004656	0	0
NEFM	4741	broad.mit.edu	37	8	24775820	24775820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24775820G>A	uc003xed.4	+	2	2485	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	NEFM_uc011lac.1_Missense_Mutation_p.E600K|NEFM_uc010lue.3_Missense_Mutation_p.E442K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	818	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		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)		ggagaccaaggaaaaaggcag	0.512000														9			5		0	0	0.000602	0	0
AMICA1	120425	broad.mit.edu	37	11	118074226	118074226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:118074226C>T	uc001psk.2	-	5	863	c.689G>A	c.(688-690)gGa>gAa	p.G230E	AMICA1_uc001psg.2_Missense_Mutation_p.G40E|AMICA1_uc001psh.2_Missense_Mutation_p.G191E|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.G220E|AMICA1_uc010rxw.1_Missense_Mutation_p.G191E|AMICA1_uc010rxx.1_Missense_Mutation_p.G230E|AMICA1_uc001psl.1_Missense_Mutation_p.G186E	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	230	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTGTAGTTTCCTCCATCTGA	0.517000														74			59		0	0	0.014410	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024572	16024572	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:16024572C>T	uc002nbu.2	-	12	1581	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.R515R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	515					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R515R(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGGCTCCACCCGCAGCCAAA	0.607000														11			7		0	0	0.003080	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:97326937G>A	uc002bue.3	+	0	259	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000														48			21		0	0	0.010504	0	0
ZNF148	7707	broad.mit.edu	37	3	124951260	124951260	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:124951260G>A	uc003ehx.4	-	8	2796	c.2310C>T	c.(2308-2310)ccC>ccT	p.P770P	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Silent_p.P770P|ZNF148_uc010hsa.3_Silent_p.P770P|ZNF148_uc003eia.4_Silent_p.P770P|ZNF148_uc003ehy.3_Silent_p.P107P	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	770					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.P770S(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CATTCACCAAGGGAAATTCTG	0.403000														12			19		0	0	0.010504	0	0
KCNK1	3775	broad.mit.edu	37	1	233807177	233807177	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:233807177C>T	uc010pxo.1	+	2	1080	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	304						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTCCTCGATCACAGACCAGG	0.488000														51			38		0	0	0.004289	0	0
C15orf55	256646	broad.mit.edu	37	15	34647840	34647840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:34647840G>A	uc010ucc.2	+	7	2013	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	C15orf55_uc010ucd.2_Missense_Mutation_p.G534E|C15orf55_uc001zif.3_Missense_Mutation_p.G516E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	516						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)		GGGCTTCAGGGGGCTGGGGGC	0.592000			T	"""BRD3, BRD4"""	lethal midline carcinoma									79			48		0	0	0.014410	0	0
HEY2	23493	broad.mit.edu	37	6	126080793	126080793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:126080793C>T	uc003qad.3	+	4	1050	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_uc011ebr.2_Missense_Mutation_p.P241S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	287	Ala-rich.				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667000														130			55		0	0	0.014410	0	0
GART	2618	broad.mit.edu	37	21	34889366	34889366	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:34889366G>A	uc002yrz.3	-	15	2348	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	GART_uc002yrx.3_Silent_p.A679A|GART_uc010gmd.3_Silent_p.A341A|GART_uc002yry.3_Silent_p.A679A	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	679	AIRS.				'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)	CAGTAATATGGGCAAAGGCTT	0.458000														80			36		0	0	0.003755	0	0
ANP32C	23520	broad.mit.edu	37	4	165118374	165118374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:165118374C>T	uc011cjk.2	-	0	490	c.490G>A	c.(490-492)Gat>Aat	p.D164N	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	164	Asp/Glu-rich (highly acidic).							p.L163L(1)|p.D164E(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TCCTCGTCATCCAGGCCCTCC	0.547000														36			22		0	0	0.012319	0	0
FBLN5	10516	broad.mit.edu	37	14	92336596	92336596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:92336596C>T	uc010aue.3	-	11	1915	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	TC2N_uc001xzv.4_5'Flank|FBLN5_uc010aud.3_Missense_Mutation_p.R445Q|FBLN5_uc001xzx.4_Missense_Mutation_p.R440Q|FBLN5_uc001xzw.3_Non-coding_Transcript	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	440					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CACATATATCCGCAGTCGGAT	0.552000														41			47		0	0	0.013114	0	0
SLFN11	91607	broad.mit.edu	37	17	33679437	33679437	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33679437G>A	uc002hjg.4	-	4	2891	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L	SLFN11_uc010ctr.3_Silent_p.L882L|SLFN11_uc010ctp.3_Silent_p.L882L|SLFN11_uc010ctq.3_Silent_p.L882L|SLFN11_uc002hjh.4_Silent_p.L882L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	882						nucleus	ATP binding	p.V881I(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGACAGATCAGAACATTGGGT	0.463000														134			54		0	0	0.014410	0	0
CRB1	23418	broad.mit.edu	37	1	197446994	197446994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:197446994G>A	uc001gtz.3	+	11	4415	c.4206G>A	c.(4204-4206)atG>atA	p.M1402I	CRB1_uc010poz.2_Missense_Mutation_p.M1378I|CRB1_uc009wza.3_Missense_Mutation_p.M1290I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.M866I|CRB1_uc010ppd.2_Missense_Mutation_p.M883I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1402					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCCTGCAATGGAGAGACTGA	0.522000														84			45		0	0	0.014410	0	0
SEL1L2	80343	broad.mit.edu	37	20	13845827	13845827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:13845827C>T	uc010gcf.3	-	16	1713	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	SEL1L2_uc002woq.4_Missense_Mutation_p.R405Q|SEL1L2_uc010zrl.2_Missense_Mutation_p.E489K|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	544						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATGGCAGCTCGATTCCATAG	0.428000														85			33		0	0	0.004878	0	0
BDKRB2	624	broad.mit.edu	37	14	96706806	96706806	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:96706806C>T	uc010avm.1	+	2	337	c.141C>T	c.(139-141)tgC>tgT	p.C47C	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.C20C|BDKRB2_uc001yfg.2_Silent_p.C47C	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	47					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGAGCAAATGCCCCCAAGTGG	0.577000														59			57		0	0	0.014410	0	0
OR52B4	143496	broad.mit.edu	37	11	4389397	4389397	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4389397C>T	uc010qye.2	-	0	220	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)|p.L42F(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCTGTTCCCAAGAAGGG	0.527000														29			14		0	0	0.001855	0	0
NETO1	81832	broad.mit.edu	37	18	70417358	70417358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:70417358C>T	uc002lkw.3	-	8	1764	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	NETO1_uc002lky.2_Missense_Mutation_p.E494K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	494					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTCGATTTCATCTATGTCA	0.473000														42			11		0	0	0.008291	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951228	62951228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:62951228C>T	uc001nwr.1	-	4	892	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.E298K	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	298					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TTTCTAAGTTCCTTTAAGCCC	0.498000														108			65		0	0	0.014410	0	0
PCDH19	57526	broad.mit.edu	37	X	99657804	99657804	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:99657804C>A	uc010nmz.3	-	2	4010	c.2334G>T	c.(2332-2334)aaG>aaT	p.K778N	PCDH19_uc004efw.4_Missense_Mutation_p.K731N|PCDH19_uc004efx.4_Missense_Mutation_p.K731N	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	778					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						TGATTTTTTTCTTCTTGCTTG	0.463000														7			11		0.00010058	0.000105254	0.013537	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33802161	33802161	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:33802161G>A	uc002hjn.3	-	4	2349	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	SLFN12L_uc021tuy.1_Silent_p.I516I	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	548						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCAAGTAGAAGATCTTTGTCA	0.383000														29			14		0	0	0.001855	0	0
GPX6	257202	broad.mit.edu	37	6	28473551	28473551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28473551G>A	uc021yrx.1	-	3	438	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	GPX6_uc010jrg.1_Intron	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	130					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)	TGGAAACTGGGGACAAAGCCA	0.443000														118			24		0	0	0.002780	0	0
ZNF831	128611	broad.mit.edu	37	20	57829627	57829627	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:57829627C>T	uc002yan.3	+	4	4863	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1621						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)					CTGGATTAATCACTCGGAAAG	0.488000														83			27		0	0	0.006320	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371841	19371842	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:19371841_19371842CC>TT	uc002nmb.3	-	2	374_375	c.264_265GG>AA	c.(262-267)aaggtg>aaAAtg	p.V89M	HAPLN4_uc002nmc.3_Missense_Mutation_p.V89M	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	89	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGGTCCACCACCTTTGTCCACT	0.678000														43			24		0	0	0.004672	0	0
ATAD3C	219293	broad.mit.edu	37	1	1391169	1391169	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:1391169A>T	uc001aft.2	+	6	1434	c.439_splice	c.e6-2	p.P147_splice		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	147							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTCCTCGGCAGCCCAGCCTG	0.637000														24			9		0	0	0.006214	0	0
ZNF445	353274	broad.mit.edu	37	3	44491960	44491960	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:44491960A>T	uc003cnf.2	-	5	1147	c.799T>A	c.(799-801)Tat>Aat	p.Y267N	ZNF445_uc011azv.1_Missense_Mutation_p.Y255N|ZNF445_uc011azw.1_Missense_Mutation_p.Y267N	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATGTTCCTATAATTCTCCAGC	0.483000														42			33		0	0	0.013726	0	0
DUSP27	92235	broad.mit.edu	37	1	167088601	167088601	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:167088601C>T	uc001geb.1	+	3	569	c.553C>T	c.(553-555)Cag>Tag	p.Q185*		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	185					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTGGAGATCCAGTACCTGGG	0.562000														48			21		0	0	0.002780	0	0
FMN2	56776	broad.mit.edu	37	1	240374416	240374416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240374416G>A	uc010pye.2	+	6	4183	c.3958G>A	c.(3958-3960)Gaa>Aaa	p.E1320K	FMN2_uc010pyd.2_Missense_Mutation_p.E1316K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1316	FH2.				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.P1319P(1)|p.P1319L(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)			ACTTATTTGGGAAAAAATTGA	0.328000														87			48		0	0	0.014410	0	0
BCL6B	255877	broad.mit.edu	37	17	6929856	6929856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:6929856G>A	uc010clt.1	+	5	1032	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	BCL6B_uc002geg.2_Missense_Mutation_p.E324K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	324						nucleus	zinc ion binding			skin(1)	1						TCCTGGGGACGAAGACAAACC	0.562000														47			48		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38949510	38949510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38949510G>A	uc021wvy.1	-	9	1602	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	468					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)	CAAAAAGAAGGACTTCCTTTT	0.398000														83			26		0	0	0.004656	0	0
KIF1C	10749	broad.mit.edu	37	17	4926928	4926928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:4926928C>T	uc002gan.2	+	22	3151	c.2794C>T	c.(2794-2796)Cct>Tct	p.P932S		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	932					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGAGGAGGACCCTGCCTTCCG	0.716000														35			14		0	0	0.001855	0	0
ASTN2	23245	broad.mit.edu	37	9	119202920	119202920	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:119202920G>A	uc004bjt.2	-	20	3698	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F	ASTN2_uc022bml.1_Silent_p.F895F|ASTN2_uc022bmm.1_Silent_p.F899F|ASTN2_uc004bjp.2_Silent_p.F351F|ASTN2_uc011lxr.2_Silent_p.F302F|ASTN2_uc011lxs.2_Silent_p.F302F|ASTN2_uc011lxt.2_Silent_p.F302F|ASTN2_uc004bjq.2_Silent_p.F302F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1250						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTCTCCAGACGAAGTCGCCAA	0.512000														29			19		0	0	0.010504	0	0
CAT	847	broad.mit.edu	37	11	34473726	34473726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:34473726C>T	uc001mvm.3	+	3	541	c.452C>T	c.(451-453)cCc>cTc	p.P151L	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	151					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AATAACACCCCCATTTTCTTC	0.413000														50			12		0	0	0.010729	0	0
abParts	0	broad.mit.edu	37	14	107083719	107083719	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:107083719G>A	uc021ser.1	-	129		c.5532C>T								Parts of antibodies, mostly variable regions.																		CTCTCAGAAAGTATTTCCCAT	0.488000														5			6		0	0	0.001168	0	0
STAG3	10734	broad.mit.edu	37	7	99786472	99786472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:99786472C>T	uc003utx.1	+	6	703	c.548C>T	c.(547-549)tCc>tTc	p.S183F	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.S125F	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	183					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGTCCATCCTGGAAGAAG	0.502000														71			37		0	0	0.007835	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956201	18956201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:18956201C>T	uc001mpg.3	-	0	349	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	44					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTGCGTTTCCTGTCAGCCC	0.567000														296			56		0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55540288	55540288	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:55540288T>C	uc003xsd.1	+	3	3994	c.3846T>C	c.(3844-3846)ccT>ccC	p.P1282P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1282					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)			CTTTTTTTCCTAGTGATGGTT	0.408000														117			48		0	0	0.014410	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817423	23817423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:23817423C>T	uc001wjl.3	-	4	1022	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	SLC22A17_uc010akk.3_Missense_Mutation_p.R44Q|SLC22A17_uc001wjm.3_Missense_Mutation_p.R262Q|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	262					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	p.R262Q(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGCCGGTTTCGCTCAGCCAG	0.622000														67			38		0	0	0.006230	0	0
GPX6	257202	broad.mit.edu	37	6	28473543	28473543	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28473543G>A	uc021yrx.1	-	3	446	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GPX6_uc010jrg.1_Intron	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	132					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)	CAAAGAGCTGGAAACTGGGGA	0.438000														119			26		0	0	0.005443	0	0
ALG1L2	644974	broad.mit.edu	37	3	129810956	129810956	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:129810956G>A	uc011bld.2	+	2	330	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ALG1L2_uc010hth.3_Non-coding_Transcript	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like 2 (ALG1L2), mRNA.	48					biosynthetic process		transferase activity, transferring glycosyl groups										CAGAACCTGAGGACCCAGACA	0.637000														6			6		0	0	0.001984	0	0
FLT4	2324	broad.mit.edu	37	5	180056974	180056974	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:180056974G>A	uc003mlz.4	-	4	724	c.645C>T	c.(643-645)ttC>ttT	p.F215F	FLT4_uc003mma.4_Silent_p.F215F|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Silent_p.F215F|FLT4_uc011dgz.1_Silent_p.F215F|FLT4_uc011dha.1_Missense_Mutation_p.S199F	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	215					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTTGGAAAGGAAGTCCTGGT	0.632000														33			16		0	0	0.004990	0	0
RNF43	54894	broad.mit.edu	37	17	56435450	56435450	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:56435450G>A	uc002iwf.3	-	7	3643	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	RNF43_uc010wnv.2_Nonsense_Mutation_p.Q522*|RNF43_uc002iwh.4_Nonsense_Mutation_p.Q563*|RNF43_uc002iwg.4_Nonsense_Mutation_p.Q563*|RNF43_uc010dcw.3_Nonsense_Mutation_p.Q436*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	563						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATGCCACTGGAACCGCTTT	0.622000														117			59		0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	142567858	142567858	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:142567858A>G	uc002tvj.1	-	1	1167	c.195T>C	c.(193-195)tcT>tcC	p.S65S	LRP1B_uc010fnl.1_Silent_p.S102S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	65	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E64K(1)		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)		AGGTATCTAAAGACTCGTCTG	0.458000										TSP Lung(27;0.18)				16			27		0	0	0.006320	0	0
LAMTOR2	28956	broad.mit.edu	37	1	156028139	156028139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156028139C>T	uc001fnb.3	+	3	519	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	LAMTOR2_uc010pgy.1_Missense_Mutation_p.L89F|RAB25_uc001fnc.3_5'Flank	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN	Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2), transcript variant 1, mRNA.	119					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex|lysosomal membrane				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GGAGGAGCCCCTCACCCAAGT	0.572000														138			67		0	0	0.014410	0	0
TAF1L	138474	broad.mit.edu	37	9	32635109	32635109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:32635109G>A	uc003zrg.1	-	0	559	c.469C>T	c.(469-471)Cct>Tct	p.P157S	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	157	Pro-rich.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGGTGGAGGAGGCATCAAC	0.488000														57			18		0	0	0.006122	0	0
CWF19L2	143884	broad.mit.edu	37	11	107224410	107224410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:107224410G>A	uc010rvp.2	-	12	1955	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Intron	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	642							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGCTGCTTTGGAGACAAACAT	0.398000														31			34		0	0	0.004878	0	0
KCNS3	3790	broad.mit.edu	37	2	18113419	18113419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:18113419G>A	uc021veh.1	+	0	1144	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	KCNS3_uc002rcv.3_Missense_Mutation_p.A382T|KCNS3_uc002rcw.3_Missense_Mutation_p.A382T	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	382					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.A382A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTCACCTTGGCGGGAAAGCT	0.552000														25			53		0	0	0.014410	0	0
NGFR	4804	broad.mit.edu	37	17	47579543	47579543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:47579543C>T	uc002ioz.4	+	1	310	c.185C>T	c.(184-186)aCc>aTc	p.T62I		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	62					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCAACCAGACCGTGTGTGAG	0.652000														42			23		0	0	0.002780	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:176526002G>A	uc001gkz.3	+	1	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	182					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E182K(3)|p.E182*(2)		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						AACCCTGAACGAACCCAAACC	0.587000														151			43		0	0	0.009718	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136952	40136952	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:40136952A>T	uc021qgf.1	-	0	891	c.891T>A	c.(889-891)caT>caA	p.H297Q	LRRC4C_uc001mxc.1_Missense_Mutation_p.H293Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.H293Q|LRRC4C_uc001mxa.1_Missense_Mutation_p.H297Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.H293Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	297					regulation of axonogenesis	integral to membrane	protein binding	p.H297N(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGATGTAAATGTATCCGCT	0.473000														71			35		0	0	0.004289	0	0
LDB2	9079	broad.mit.edu	37	4	16510176	16510176	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:16510176A>G	uc003goz.3	-	6	1189	c.873T>C	c.(871-873)agT>agC	p.S291S	LDB2_uc003gpa.3_Silent_p.S291S|LDB2_uc011bxh.2_Silent_p.S263S|LDB2_uc003gpb.3_Silent_p.S291S|LDB2_uc010iee.3_Silent_p.S291S|LDB2_uc011bxi.2_Silent_p.S167S	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	291							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GACTGGACAGACTCAGGTTTG	0.478000														42			26		0	0	0.005443	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695625	153695625	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:153695625C>T	uc004flm.3	+	18	3425	c.3252C>T	c.(3250-3252)atC>atT	p.I1084I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1084	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCCGGCATCTTTCTTGGGC	0.632000														19			42		0	0	0.013114	0	0
TAAR2	9287	broad.mit.edu	37	6	132939139	132939139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132939139G>A	uc003qdl.1	-	1	206	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TAAR2_uc010kfr.1_Missense_Mutation_p.S24F	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	69						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTTGAAGTAGGAAATGGAAAT	0.423000														40			21		0	0	0.012319	0	0
EVPL	2125	broad.mit.edu	37	17	74005097	74005097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:74005097C>T	uc010wss.1	-	21	4483	c.4255G>A	c.(4255-4257)Gag>Aag	p.E1419K	EVPL_uc002jqi.2_Missense_Mutation_p.E1397K|EVPL_uc010wst.1_Missense_Mutation_p.E867K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1397	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCACCTCCTCATCCAGGCTC	0.697000														69			31		0	0	0.013726	0	0
CSMD3	114788	broad.mit.edu	37	8	114290842	114290842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:114290842C>T	uc003ynu.3	-	2	652	c.493G>A	c.(493-495)Gga>Aga	p.G165R	CSMD3_uc003ynt.3_Missense_Mutation_p.G125R|CSMD3_uc011lhx.2_Missense_Mutation_p.G165R|CSMD3_uc010mcx.1_Missense_Mutation_p.G165R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	165	CUB 1.					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						ACCTTAAATCCATGAGCACTA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				31			14		0	0	0.002450	0	0
RGS18	64407	broad.mit.edu	37	1	192153488	192153488	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:192153488A>C	uc001gsg.3	+	4	688	c.512A>C	c.(511-513)cAc>cCc	p.H171P		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	171	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTACCCTCCACAGTTTTGAT	0.363000														66			20		0	0	0.014323	0	0
ATG12	9140	broad.mit.edu	37	5	115173368	115173368	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:115173368T>C	uc003krh.3	-	1	556	c.257A>G	c.(256-258)gAc>gGc	p.D86G	ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Intron	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	86					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TTTGATGAAGTCAATGAGTCC	0.398000														19			34		0	0	0.004289	0	0
VILL	50853	broad.mit.edu	37	3	38035811	38035811	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38035811G>A	uc003chj.3	+	3	481	c.195G>A	c.(193-195)ggG>ggA	p.G65G	VILL_uc003chk.1_Silent_p.G65G|VILL_uc003chl.3_Silent_p.G65G|VILL_uc010hgu.3_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	65					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTGGGTCGGGAAGCAGGCGG	0.697000														23			13		0	0	0.003163	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805875	77805875	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:77805875C>T	uc003kfo.3	-	3	838	c.162G>A	c.(160-162)ccG>ccA	p.P54P		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	54						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGTAGGGCTCCGGGGAgcccc	0.706000														8			4		0	0	0.009096	0	0
OR52E6	390078	broad.mit.edu	37	11	5862440	5862440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5862440G>A	uc010qzq.2	-	0	688	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGGAGGGCAGGCAGAAG	0.433000														30			16		0	0	0.003163	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16823227	16823227	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:16823227G>A	uc010rcu.1	-	15	2310	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	PLEKHA7_uc001mmo.3_Silent_p.S765S|PLEKHA7_uc010rcv.2_Silent_p.S339S|PLEKHA7_uc001mmn.3_Silent_p.S473S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	765					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						TGGACTCTCTGGAGAGCTCAG	0.572000														25			10		0	0	0.008291	0	0
OR51B2	79345	broad.mit.edu	37	11	5344895	5344895	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5344895G>A	uc001mao.1	-	0	688	c.633C>T	c.(631-633)atC>atT	p.I211I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAGAGGATGATCAGACAGT	0.388000														20			10		0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55539350	55539350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:55539350G>A	uc003xsd.1	+	3	3056	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	970					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)			TTTTGTTATGGAAAGTAATAA	0.328000														55			24		0	0	0.002780	0	0
OR13G1	441933	broad.mit.edu	37	1	247835454	247835454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247835454C>T	uc001idi.1	-	0	890	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTCCTAATTCCTGCCTGCAT	0.423000														111			27		0	0	0.010818	0	0
EPHA7	2045	broad.mit.edu	37	6	93967959	93967960	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93967959_93967960CC>TT	uc003poe.3	-	10	2208_2209	c.1967_1968GG>AA	c.(1966-1968)ggg>gAA	p.G656E	EPHA7_uc003pof.3_Missense_Mutation_p.G651E|EPHA7_uc011eac.2_Missense_Mutation_p.G652E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G656W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATCTCTTTTCCCTGGAAGTTT	0.386000														127			43		0	0	0.004672	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179315211	179315211	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:179315211G>A	uc003mlh.3	-	6	1181	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	TBC1D9B_uc003mli.3_Silent_p.D382D|TBC1D9B_uc003mlj.3_Silent_p.D382D	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	382						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAATCACGGTCTTTCAGGT	0.522000														135			28		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179464508	179464508	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179464508T>C	uc021vsy.1	-	237	48641	c.48416A>G	c.(48415-48417)aAa>aGa	p.K16139R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K9834R|TTN_uc021vta.1_Missense_Mutation_p.K9767R|TTN_uc021vtb.1_Missense_Mutation_p.K9642R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17066	Fibronectin type-III 17.						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)			ACCTTTAATTTTGGCCACAAT	0.383000														31			60		0	0	0.014410	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457365	45457365	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:45457365C>T	uc001rol.3	-	0		c.1830G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GGAACAGACTCCCTGTGACAG	0.473000														24			16		0	0	0.008871	0	0
KBTBD5	131377	broad.mit.edu	37	3	42733442	42733442	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:42733442T>G	uc003clv.1	+	5	1923	c.1823T>G	c.(1822-1824)tTc>tGc	p.F608C		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	608										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTGCCACCTTCCTACCAGTG	0.582000														52			34		0	0	0.004878	0	0
DNHD1	144132	broad.mit.edu	37	11	6519925	6519925	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6519925C>T	uc001mdw.4	+	2	1044	c.480C>T	c.(478-480)ccC>ccT	p.P160P	DNHD1_uc001mdp.3_Silent_p.P160P	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	160					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCACAGGCCCCCATGCCCAG	0.592000														135			65		0	0	0.014410	0	0
VWA2	340706	broad.mit.edu	37	10	116049073	116049073	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:116049073C>T	uc001lbl.1	+	11	2268	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	VWA2_uc001lbk.1_Silent_p.A649A|VWA2_uc009xyf.1_Silent_p.A345A	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	649	VWFA 3.					extracellular region				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)		AGGATGCAGCCGTTCCTGCCC	0.627000														10			10		0	0	0.008291	0	0
C20orf141	128653	broad.mit.edu	37	20	2796002	2796002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:2796002G>A	uc002wgv.2	+	1	255	c.172G>A	c.(172-174)Gga>Aga	p.G58R	C20orf141_uc010gat.3_Missense_Mutation_p.G58R|C20orf141_uc002wgw.3_Missense_Mutation_p.G58R|TMEM239_uc002wgx.2_5'Flank|TMEM239_uc021vzw.1_5'Flank	NM_001167670	NP_001161142	Q9NUB4	CT141_HUMAN	Homo sapiens transmembrane protein 239 (TMEM239), mRNA.	58	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GGGGGCACTAGGACTGACAAT	0.612000														98			42		0	0	0.013114	0	0
ARID2	196528	broad.mit.edu	37	12	46244079	46244079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:46244079C>T	uc001ros.1	+	14	2173	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q725*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q181*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q352*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q59*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	725					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)		TTCCATACCCCAGACAGGAGT	0.443000			"""N, S, F"""		hepatocellular carcinoma									71			32		0	0	0.003755	0	0
COL19A1	1310	broad.mit.edu	37	6	70778345	70778345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:70778345C>T	uc003pfc.1	+	14	1318	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	COL19A1_uc010kam.2_Missense_Mutation_p.P297S	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	401	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P401T(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCCCAAGGTCCACCTGGAAA	0.438000														41			19		0	0	0.002780	0	0
MPND	84954	broad.mit.edu	37	19	4359203	4359204	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:4359203_4359204GG>AA	uc002mae.3	+	10	1347_1348	c.1280_1281GG>AA	c.(1279-1281)agg>aAA	p.R427K	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Missense_Mutation_p.R407K	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	427							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTCGTGAGGCTCCAGGAAC	0.629000														33			14		0	0	0.004672	0	0
PKP2	5318	broad.mit.edu	37	12	32975492	32975492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:32975492G>A	uc001rlj.4	-	8	1995	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	PKP2_uc001rlk.4_Missense_Mutation_p.S583F|PKP2_uc010skj.2_Missense_Mutation_p.S583F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	627					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)					GATATTCTGGGAATATTTCTC	0.413000														38			24		0	0	0.014323	0	0
LOC646214	646214	broad.mit.edu	37	15	21936529	21936529	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:21936529G>A	uc010tzj.1	-	0		c.4211C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GTAGAAAATGGAAAAAAGAAT	0.363000														152			21		0	0	0.008871	0	0
THSD4	79875	broad.mit.edu	37	15	72057427	72057427	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:72057427C>T	uc002atb.1	+	14	2737	c.2658C>T	c.(2656-2658)acC>acT	p.T886T	THSD4_uc002ate.2_Silent_p.T526T|THSD4_uc002atg.1_Silent_p.T89T	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	886	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGCAGACACCTTTGAAGTGT	0.512000														66			40		0	0	0.008740	0	0
PIWIL2	55124	broad.mit.edu	37	8	22140560	22140560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:22140560G>A	uc003xbn.2	+	4	587	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	PIWIL2_uc011kzf.1_Missense_Mutation_p.G147R|PIWIL2_uc010ltv.2_Missense_Mutation_p.G147R	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	147					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)		GCTTGGAAGAGGGAGTTCAGA	0.502000														45			13		0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	3889592	3889592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:3889592C>T	uc022aqr.1	-	3	835	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	149	Sushi 1.					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)		AGGATTTCTCCAGGATTTCCA	0.413000														45			13		0	0	0.013537	0	0
CACNA1A	773	broad.mit.edu	37	19	13476165	13476165	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:13476165T>C	uc002mwy.3	-	4	986	c.750A>G	c.(748-750)ggA>ggG	p.G250G	CACNA1A_uc010xnd.2_Silent_p.G250G|CACNA1A_uc021ups.1_Silent_p.G250G|CACNA1A_uc010xne.2_Silent_p.G250G|CACNA1A_uc010dze.2_Silent_p.G250G|CACNA1A_uc021upt.1_Silent_p.G250G	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	250					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)	TATGAAATTTTCCCATATAAA	0.443000														97			45		0	0	0.014410	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086702	46086702	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46086702G>A	uc002zfu.3	-	0	143	c.102C>T	c.(100-102)tgC>tgT	p.C34C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	34	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGGCACACAGCAGGATGCCT	0.667000														22			11		0	0	0.010729	0	0
ZNF236	7776	broad.mit.edu	37	18	74649199	74649199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:74649199C>T	uc002lmi.3	+	25	4874	c.4676C>T	c.(4675-4677)tCg>tTg	p.S1559L	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1559					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1558S(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGTCCTCGTCGGGCGTGGGA	0.547000														42			37		0	0	0.005524	0	0
ADAP2	55803	broad.mit.edu	37	17	29280360	29280360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:29280360G>A	uc010csk.3	+	7	1093	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	ADAP2_uc002hfy.3_Missense_Mutation_p.G266R|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.G266R	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	266	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGAAAAGACTGGGCCAAAGGT	0.468000														16			9		0	0	0.008291	0	0
BTBD11	121551	broad.mit.edu	37	12	107937824	107937824	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:107937824C>T	uc001tmk.1	+	2	1919	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	BTBD11_uc009zut.1_Silent_p.A466A|BTBD11_uc001tmj.3_Silent_p.A466A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	466						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCCCGAGGCCCTGTACACCC	0.577000														32			8		0	0	0.004482	0	0
C15orf55	256646	broad.mit.edu	37	15	34640675	34640675	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:34640675C>T	uc010ucc.2	+	2	988	c.606C>T	c.(604-606)ccC>ccT	p.P202P	C15orf55_uc010ucd.2_Silent_p.P192P|C15orf55_uc001zif.3_Silent_p.P174P	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	174						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)		CCATTGTGCCCCTGGAAAAAG	0.597000			T	"""BRD3, BRD4"""	lethal midline carcinoma									19			9		0	0	0.006214	0	0
CPSF1	29894	broad.mit.edu	37	8	145620346	145620346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:145620346G>A	uc003zcj.3	-	28	3314	c.3239C>T	c.(3238-3240)tCc>tTc	p.S1080F	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1080					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTGACCGGGGAGATGAGCTG	0.662000														33			16		0	0	0.006122	0	0
FRS3	10817	broad.mit.edu	37	6	41744686	41744686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41744686G>A	uc003orc.1	-	2	284	c.40C>T	c.(40-42)Cca>Tca	p.P14S		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	14	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTTGTCTGGAACGCTGTCT	0.547000														103			30		0	0	0.004289	0	0
USP19	10869	broad.mit.edu	37	3	49149150	49149150	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49149150G>A	uc003cwd.2	-	19	3010	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	USP19_uc003cwa.3_Silent_p.S705S|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Silent_p.S1000S|USP19_uc011bcg.2_Silent_p.S988S|USP19_uc003cwc.2_Silent_p.S655S|USP19_uc011bch.2_Silent_p.S998S	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	897					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)		CAGCCTCCAGGGAACCTGTGG	0.637000														47			20		0	0	0.014323	0	0
LRP1	4035	broad.mit.edu	37	12	57591968	57591968	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:57591968C>T	uc001snd.3	+	58	9778	c.9312C>T	c.(9310-9312)ccC>ccT	p.P3104P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3104					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)	TCAGCAACCCCGATGGGCTGG	0.647000														13			12		0	0	0.001855	0	0
ACSM4	341392	broad.mit.edu	37	12	7480885	7480885	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7480885G>A	uc001qsx.1	+	12	1659	c.1659G>A	c.(1657-1659)gtG>gtA	p.V553V		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	553					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TCAATTAGGTGGAATTTGTTC	0.398000														6			3		0	0	0.004672	0	0
CDH23	64072	broad.mit.edu	37	10	73491806	73491806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:73491806G>A	uc001jrx.4	+	30	4162	c.3772G>A	c.(3772-3774)Gag>Aag	p.E1258K	CDH23_uc001jrz.3_Missense_Mutation_p.E1258K|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.E68K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1260	Cadherin 12.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A1257T(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAGATTGACGAGAGCACAGG	0.562000														17			8		0	0	0.003080	0	0
HERC2	8924	broad.mit.edu	37	15	28362298	28362298	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:28362298G>A	uc001zbj.3	-	86	13381	c.13275C>T	c.(13273-13275)gtC>gtT	p.V4425V	HERC2_uc001zbi.3_Silent_p.V114V	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4425					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGATCGTTTGACCTGGAGAG	0.622000														17			14		0	0	0.006122	0	0
OR5B2	390190	broad.mit.edu	37	11	58190410	58190410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58190410C>T	uc010rkg.2	-	0	377	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGTAATTTTCCACCGTGGCC	0.517000														53			20		0	0	0.012319	0	0
TMC5	79838	broad.mit.edu	37	16	19475337	19475337	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19475337C>T	uc002dgc.4	+	7	2225	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TMC5_uc010vaq.2_Silent_p.F492F|TMC5_uc002dgb.4_Silent_p.F492F|TMC5_uc010var.2_Silent_p.F492F|TMC5_uc002dgd.1_Silent_p.F246F|TMC5_uc002dge.4_Silent_p.F246F|TMC5_uc002dgf.4_Silent_p.F175F|TMC5_uc002dgg.4_Silent_p.F133F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	492						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						TGGAGTTTTTCACTGGGGTGG	0.512000														38			13		0	0	0.003163	0	0
LAMA2	3908	broad.mit.edu	37	6	129674493	129674493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:129674493G>A	uc021zfb.1	+	31	4813	c.4708G>A	c.(4708-4710)Gag>Aag	p.E1570K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1570K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1570K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1570	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGAGGGCTGGGAGTGTGTTTG	0.552000														50			39		0	0	0.008740	0	0
GON4L	54856	broad.mit.edu	37	1	155784200	155784200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:155784200G>A	uc001flz.2	-	8	1299	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	GON4L_uc001fly.1_Missense_Mutation_p.P401L|GON4L_uc009wrh.1_Missense_Mutation_p.P401L|GON4L_uc001fma.1_Missense_Mutation_p.P401L|GON4L_uc001fmc.3_Missense_Mutation_p.P401L|GON4L_uc001fmd.4_Missense_Mutation_p.P401L|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.P229L|GON4L_uc001fmf.3_Missense_Mutation_p.P95L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	401					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCCCCACGTGGAGATGAAGC	0.413000														137			32		0	0	0.003271	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418031	4418031	+	Silent	SNP	C	T	T	rs143106881		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:4418031C>T	uc002mal.3	+	3	1075	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	325	Arg/Glu/Lys-rich.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAAGAAATTCGTCAAAGGCT	0.348000								Chromatin Structure						52			26		0	0	0.007291	0	0
XYLT2	64132	broad.mit.edu	37	17	48434518	48434518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:48434518G>A	uc002iqo.3	+	8	1955	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	XYLT2_uc010dbo.3_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	616					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTCAGCCCAGGGGCCGGCAGA	0.647000														20			13		0	0	0.002450	0	0
EPB41L2	2037	broad.mit.edu	37	6	131225613	131225613	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:131225613A>T	uc003qch.2	-	5	1103	c.921T>A	c.(919-921)gaT>gaA	p.D307E	EPB41L2_uc010kfl.2_Missense_Mutation_p.D307E|EPB41L2_uc003qcg.1_Missense_Mutation_p.D307E|EPB41L2_uc003qci.3_Missense_Mutation_p.D307E|EPB41L2_uc011eby.2_Missense_Mutation_p.D307E|EPB41L2_uc010kfk.2_Missense_Mutation_p.D307E	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	307	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACCTGGTGATATCTTCAGTCA	0.353000														61			32		0	0	0.013726	0	0
SEC31B	25956	broad.mit.edu	37	10	102250508	102250508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:102250508G>A	uc001krc.1	-	19	2707	c.2605C>T	c.(2605-2607)Ccc>Tcc	p.P869S	SEC31B_uc010qpo.1_Missense_Mutation_p.P868S|SEC31B_uc001krd.1_Missense_Mutation_p.P406S|SEC31B_uc001krf.1_Missense_Mutation_p.P406S|SEC31B_uc001kre.1_Missense_Mutation_p.P406S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	869	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGGCCTGGGGCCCAGGTGCC	0.572000														14			15		0	0	0.003163	0	0
LDB2	9079	broad.mit.edu	37	4	16510279	16510279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:16510279C>T	uc003goz.3	-	6	1086	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	LDB2_uc003gpa.3_Missense_Mutation_p.R257Q|LDB2_uc011bxh.2_Missense_Mutation_p.R229Q|LDB2_uc003gpb.3_Missense_Mutation_p.R257Q|LDB2_uc010iee.3_Missense_Mutation_p.R257Q|LDB2_uc011bxi.2_Missense_Mutation_p.R133Q	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	257							LIM domain binding|transcription cofactor activity	p.R257Q(3)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CCTTTTTCTCCGTTTGGTTGT	0.478000														46			20		0	0	0.012319	0	0
TADA2A	6871	broad.mit.edu	37	17	35830620	35830620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:35830620C>T	uc002hnv.3	+	12	1381	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	TADA2A_uc002hnt.3_Missense_Mutation_p.R338C|TADA2A_uc002hnw.3_Missense_Mutation_p.R237C	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	338					histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	p.R338H(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GCAGTGGCTCCGCCGGCAAGC	0.512000														86			40		0	0	0.008740	0	0
KRT10	3858	broad.mit.edu	37	17	38976631	38976631	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38976631C>T	uc002hvi.3	-	3	938	c.912G>A	c.(910-912)gtG>gtA	p.V304V	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	304	Gly-rich.|Linker 12.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CATTCATTTCCACATTCACAT	0.418000														103			36		0	0	0.006999	0	0
ARAP2	116984	broad.mit.edu	37	4	36069821	36069821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:36069821C>T	uc003gsq.2	-	32	5161	c.4823G>A	c.(4822-4824)aGa>aAa	p.R1608K	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1608					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATGGAAGCTCTCTCCTTTAA	0.473000														85			37		0	0	0.007835	0	0
AQP9	366	broad.mit.edu	37	15	58467217	58467217	+	Silent	SNP	G	A	A	rs140673133	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:58467217G>A	uc002aez.2	+	3	834	c.477G>A	c.(475-477)gcG>gcA	p.A159A	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Silent_p.A94A	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	159					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.A159A(2)|p.A159V(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATCTCTGGCGAACGCATTTG	0.418000														64			29		0	0	0.008361	0	0
L1TD1	54596	broad.mit.edu	37	1	62672782	62672782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:62672782C>T	uc021ooc.1	+	3	917	c.482C>T	c.(481-483)cCc>cTc	p.P161L	L1TD1_uc001dae.4_Missense_Mutation_p.P161L	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	161										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						aagaaattaccccagggtgaa	0.333000														14			5		0	0	0.000602	0	0
FAT3	120114	broad.mit.edu	37	11	92539573	92539573	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:92539573A>T	uc001pdj.4	+	10	9156	c.9139A>T	c.(9139-9141)Atc>Ttc	p.I3047F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3047	Cadherin 28.				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)				ATCAAATAAAATCATCCTGAA	0.368000										TCGA Ovarian(4;0.039)				351			70		0	0	0.014410	0	0
DOT1L	84444	broad.mit.edu	37	19	2222480	2222480	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:2222480C>T	uc002lvc.1	+	9	1961	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	DOT1L_uc002lvb.4_Silent_p.S1104S|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1104	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CAGGCGTGTCCCCCAAGCGCC	0.701000														26			9		0	0	0.004482	0	0
FYB	2533	broad.mit.edu	37	5	39202935	39202935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:39202935C>T	uc003jls.3	-	0	195	c.128G>A	c.(127-129)gGa>gAa	p.G43E	FYB_uc003jlt.3_Missense_Mutation_p.G43E|FYB_uc003jlu.3_Missense_Mutation_p.G43E|FYB_uc011cpl.2_Missense_Mutation_p.G53E	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	43					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.Q42R(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTGGCATTTCCTTGGTTGTT	0.498000														20			28		0	0	0.006320	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265218	37265218	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:37265218G>A	uc002hrg.2	-	3	620	c.408C>T	c.(406-408)gtC>gtT	p.V136V	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.	136					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						CAAAGGACAAGACCACTCTCT	0.607000														30			12		0	0	0.010729	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213868	3213868	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:3213868C>T	uc002fvi.2	+	0	330	c.264C>T	c.(262-264)ttC>ttT	p.F88F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TGAGCCATTTCATATCCAACG	0.542000														62			14		0	0	0.004007	0	0
POF1B	79983	broad.mit.edu	37	X	84562249	84562249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:84562249C>T	uc004eer.2	-	10	1230	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	POF1B_uc004ees.3_Missense_Mutation_p.D362N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	362							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AATGATAAATCTTTCTCAAGT	0.328000														8			12		0	0	0.010729	0	0
GCOM1	145781	broad.mit.edu	37	15	57910270	57910270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:57910270C>T	uc002aei.3	+	2	333	c.202C>T	c.(202-204)Cct>Tct	p.P68S	GCOM1_uc002aej.3_Missense_Mutation_p.P68S|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.P68S|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.P68S	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	68					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGAAACTTCCTCAGGGTGT	0.423000														32			16		0	0	0.007413	0	0
RP1L1	94137	broad.mit.edu	37	8	10464745	10464745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10464745G>A	uc003wtc.3	-	3	7092	c.6863C>T	c.(6862-6864)cCc>cTc	p.P2288L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2288					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTTGGTGGGGAGTGTCTCC	0.582000														164			60		0	0	0.014410	0	0
ITGA10	8515	broad.mit.edu	37	1	145541455	145541455	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:145541455C>T	uc001eoa.3	+	27	3319	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	ITGA10_uc010oyv.2_Silent_p.S950S|ITGA10_uc009wiw.3_Silent_p.S938S|ITGA10_uc010oyw.2_Silent_p.S988S	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	1081					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTTCAAGTCCCTGACGGTGG	0.502000														21			11		0	0	0.010729	0	0
CDHR5	53841	broad.mit.edu	37	11	619372	619372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:619372C>T	uc001lql.3	-	11	1579	c.1312G>A	c.(1312-1314)Gtg>Atg	p.V438M	CDHR5_uc001lqj.3_Missense_Mutation_p.V438M|CDHR5_uc009ycd.3_Missense_Mutation_p.V438M|CDHR5_uc001lqk.3_Missense_Mutation_p.V438M|CDHR5_uc009ycc.3_Missense_Mutation_p.V272M	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	438	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCAGAGGTCACCGTGTTGTGG	0.622000														20			9		0	0	0.006214	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256934	24256934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24256934G>A	uc003xdz.2	+	9	1178	c.958G>A	c.(958-960)Gga>Aga	p.G320R	ADAMDEC1_uc010lub.2_Missense_Mutation_p.G241R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G241R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	320	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)		TCGACGTGTGGGACTGGCAGC	0.398000														85			27		0	0	0.003271	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096235	41096235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:41096235C>T	uc002oob.3	+	15	1724	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	SHKBP1_uc002ooc.3_Missense_Mutation_p.R534W|SHKBP1_uc010xvl.1_Missense_Mutation_p.R482W|SHKBP1_uc002ooe.3_Missense_Mutation_p.R396W|SHKBP1_uc010xvm.2_Missense_Mutation_p.R339W|SHKBP1_uc010xvn.2_Missense_Mutation_p.R437W|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	559						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S558F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCGGCTCTCGGCCCCGGCG	0.711000														16			5		0	0	0.001168	0	0
KIF23	9493	broad.mit.edu	37	15	69733239	69733239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:69733239C>T	uc002asb.3	+	17	2378	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	KIF23_uc002asc.3_Intron|KIF23_uc010bii.3_Missense_Mutation_p.P624S|KIF23_uc010ukc.2_Intron	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	734					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.P734S(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GCAGAAAATTCCTACGTACAA	0.502000														19			21		0	0	0.012319	0	0
TROVE2	6738	broad.mit.edu	37	1	193038753	193038753	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:193038753C>A	uc001gss.3	+	1	945	c.569C>A	c.(568-570)cCt>cAt	p.P190H	TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.P190H|TROVE2_uc009wyp.3_Missense_Mutation_p.P190H|TROVE2_uc001gsw.3_Missense_Mutation_p.P190H|TROVE2_uc009wyq.3_Missense_Mutation_p.P190H|TROVE2_uc001gsx.2_Missense_Mutation_p.P190H	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	190	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CATCTTAAACCTTCCAGTGAA	0.363000														70			17		4.7546e-09	4.991e-09	0.004007	1	0
MFSD3	113655	broad.mit.edu	37	8	145736175	145736175	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:145736175A>C	uc003zdi.1	+	4	1121	c.956_splice	c.e4-2	p.G319_splice		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	Homo sapiens major facilitator superfamily domain containing 3 (MFSD3), mRNA.	319	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCCCTCCCAGGGTCAGCCT	0.632000														29			21		0	0	0.008871	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:140481411C>T	uc003vwc.4	-	10	1458	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		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.G466V(35)|p.G466E(12)|p.G466A(5)|p.G466R(3)|p.S465S(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)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	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					70			32		0	0	0.010818	0	0
TMC5	79838	broad.mit.edu	37	16	19451378	19451378	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19451378G>A	uc002dgc.4	+	2	767	c.18G>A	c.(16-18)agG>agA	p.R6R	TMC5_uc010vaq.2_Silent_p.R6R|TMC5_uc002dgb.4_Silent_p.R6R|TMC5_uc010var.2_Silent_p.R6R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	6						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						CCTACTACAGGAATAACTGGT	0.448000														64			21		0	0	0.002780	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965114	42965114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:42965114C>T	uc003gwt.3	+	1	591	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	197	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGCTCCTTCCCTCCCTGTT	0.433000														246			122		0	0	0.014410	0	0
ANXA3	306	broad.mit.edu	37	4	79503353	79503353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:79503353G>A	uc003hld.3	+	4	531	c.221G>A	c.(220-222)gGt>gAt	p.G74D		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	74					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GACTTGAAGGGTGATCTCTCT	0.418000														48			25		0	0	0.005443	0	0
PAN3	255967	broad.mit.edu	37	13	28840996	28840996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:28840996G>A	uc001urz.3	+	9	1708	c.1556G>A	c.(1555-1557)tGc>tAc	p.C519Y	PAN3_uc010tdo.1_Missense_Mutation_p.C519Y|PAN3_uc001ury.3_Missense_Mutation_p.C207Y|PAN3_uc001urx.3_Missense_Mutation_p.C319Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	519	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGCCATATTGCCTTCGGAGG	0.343000														26			26		0	0	0.003954	0	0
OR8G1	26494	broad.mit.edu	37	11	124121126	124121126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124121126C>T	uc001pzx.3	+	0	704	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GAGGGCAGGTCCAAAGCCTTC	0.478000														29			27		0	0	0.006320	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919714	142919714	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142919714G>A	uc011ksx.2	+	0	543	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	181					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T181T(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCAACTCCACGGAGAAGAAGT	0.458000														96			57		0	0	0.014410	0	0
ITGA11	22801	broad.mit.edu	37	15	68608005	68608005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:68608005C>T	uc010bib.3	-	21	2863	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	ITGA11_uc002ari.3_Missense_Mutation_p.E926K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	926					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCAGCGAGCTCGATCTCCAGG	0.587000														20			4		0	0	0.001984	0	0
STAT2	6773	broad.mit.edu	37	12	56737284	56737284	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:56737284G>A	uc001slc.3	-	23	2648	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	STAT2_uc001slb.3_Silent_p.I357I|STAT2_uc001sld.3_Silent_p.I811I	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	815					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E814*(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CATTCGGCATGATTTCTTCAA	0.512000														40			11		0	0	0.001855	0	0
KLKB1	3818	broad.mit.edu	37	4	187157998	187157998	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187157998T>G	uc003iyy.3	+	4	463	c.392T>G	c.(391-393)gTt>gGt	p.V131G	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.V93G	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	131	Apple 2.				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)		GTGTCTAAGGTTAGCAGTGTT	0.393000														50			20		0	0	0.008871	0	0
AIM2	9447	broad.mit.edu	37	1	159033386	159033386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159033386C>T	uc001ftj.1	-	4	1140	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	299	HIN-200.				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)					ATTGTGTCCTCGTTTCTAACC	0.368000														244			49		0	0	0.014410	0	0
OR5B17	219965	broad.mit.edu	37	11	58125748	58125748	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58125748G>A	uc010rke.2	-	0	795	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGTCCATGGAATGACTGG	0.403000														53			26		0	0	0.003330	0	0
NRAP	4892	broad.mit.edu	37	10	115388709	115388709	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:115388709T>G	uc001lal.3	-	19	2276	c.2112A>C	c.(2110-2112)gaA>gaC	p.E704D	NRAP_uc009xyb.3_Missense_Mutation_p.E15D|NRAP_uc001laj.3_Missense_Mutation_p.E704D|NRAP_uc001lak.3_Missense_Mutation_p.E669D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	704						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)		TCTTGGCTTGTTCCAAGTTGA	0.547000														18			21		0	0	0.012319	0	0
MYH1	4619	broad.mit.edu	37	17	10419600	10419600	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10419600G>A	uc002gmo.3	-	3	358	c.264C>T	c.(262-264)atC>atT	p.I88I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	88	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.K87T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCATGTCCTCGATCTTGTCAT	0.478000														55			50		0	0	0.014410	0	0
SYCP1	6847	broad.mit.edu	37	1	115453082	115453082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115453082G>A	uc001efr.3	+	16	1594	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.G462E|SYCP1_uc009wgw.3_Missense_Mutation_p.G462E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	462					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)		GAATTAAAAGGAACAGAACAA	0.279000														62			52		0	0	0.014410	0	0
NEDD4	4734	broad.mit.edu	37	15	56130018	56130018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:56130018C>T	uc002adj.3	-	19	3788	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	NEDD4_uc002adl.3_Missense_Mutation_p.R744Q|NEDD4_uc002adi.3_Missense_Mutation_p.R1091Q|NEDD4_uc010ugj.2_Missense_Mutation_p.R1147Q|NEDD4_uc010bfm.3_Missense_Mutation_p.R1146Q|NEDD4_uc002adk.3_Intron	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1163	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CTTCTGGATTCGGTTTACAAA	0.318000														28			12		0	0	0.002450	0	0
ABCB1	5243	broad.mit.edu	37	7	87214866	87214866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:87214866C>T	uc003uiz.2	-	4	741	c.248G>A	c.(247-249)gGa>gAa	p.G83E	ABCB1_uc011khc.2_Missense_Mutation_p.G83E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	83	ABC transmembrane type-1 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)	TTCTAAATTTCCTGCATTTGC	0.393000														30			20		0	0	0.014323	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217918	150217918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150217918G>A	uc003whk.3	+	1	986	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	GIMAP7_uc022apu.1_Missense_Mutation_p.E286K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	286							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATGCTTTCAGAAATATGGCA	0.249000														29			8		0	0	0.008291	0	0
PDX1	3651	broad.mit.edu	37	13	28498646	28498646	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:28498646C>T	uc001urt.2	+	1	768	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_000209	NP_000200	P52945	PDX1_HUMAN	Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.	220					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GTGGCGGGGTCGCGGAGCCTG	0.701000														58			77		0	0	0.014410	0	0
COL17A1	1308	broad.mit.edu	37	10	105815669	105815669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:105815669C>T	uc001kxr.3	-	17	1727	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	COL17A1_uc010qqv.1_Missense_Mutation_p.E504K	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	520	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGGTCCTTTTCTATTCTATCC	0.592000														48			46		0	0	0.014410	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235621987	235621987	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:235621987A>C	uc001hxc.2	-	7	1178	c.949T>G	c.(949-951)Tat>Gat	p.Y317D		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	317					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ATATCATCATAGATGCTGCTT	0.378000														51			43		0	0	0.010771	0	0
ABCC3	8714	broad.mit.edu	37	17	48746224	48746224	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:48746224C>T	uc002isl.3	+	14	1961	c.1881C>T	c.(1879-1881)atC>atT	p.I627I		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	627					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)	GCTATGCCATCACCATACACA	0.652000														17			5		0	0	0.001168	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559291	129559291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:129559291C>T	uc009zyl.1	-	8	2757	c.2429G>A	c.(2428-2430)aGa>aAa	p.R810K	TMEM132D_uc001uia.2_Missense_Mutation_p.R348K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	810						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCTGTGTGTCTGCTGTCACT	0.498000														76			47		0	0	0.014410	0	0
HYAL4	23553	broad.mit.edu	37	7	123509239	123509239	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:123509239A>G	uc003vlc.3	+	2	1550	c.912A>G	c.(910-912)acA>acG	p.T304T	HYAL4_uc011knz.2_Silent_p.T304T	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	304					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						TTGTCTACACAAGGCTAGGGT	0.413000														29			9		0	0	0.004482	0	0
SOX30	11063	broad.mit.edu	37	5	157065624	157065624	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:157065624C>T	uc003lxb.1	-	3	1836	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.Q193Q	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	498					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACTTGGATCCTGGACAGCCA	0.577000														25			4		0	0	0.000602	0	0
ZNF609	23060	broad.mit.edu	37	15	64915042	64915042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:64915042C>T	uc002ann.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	255						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCCCTGTTTCCACACCAGCA	0.463000														129			58		0	0	0.014410	0	0
ODZ1	10178	broad.mit.edu	37	X	123514521	123514521	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:123514521C>T	uc010nqy.3	-	31	8128	c.8064G>A	c.(8062-8064)aaG>aaA	p.K2688K	ODZ1_uc011muj.2_Silent_p.K2687K|ODZ1_uc004euj.3_Silent_p.K2681K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2681					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			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						AAAGCTGCTGCTTTTCCCCTT	0.498000														33			71		0	0	0.014410	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510860	119510860	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:119510860G>A	uc003pym.1	-	9	1957	c.1515C>T	c.(1513-1515)gcC>gcT	p.A505A		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	505					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A505T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GACAAGTACGGGCAATTTCAG	0.483000														86			46		0	0	0.014410	0	0
COL23A1	91522	broad.mit.edu	37	5	177690292	177690292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:177690292G>A	uc021yiz.1	-	8	914	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.L33L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	186	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGGGCCCCGGAGGCCCAGCA	0.672000														26			24		0	0	0.002780	0	0
CREBRF	153222	broad.mit.edu	37	5	172517345	172517345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:172517345C>T	uc003mch.3	+	3	482	c.163C>T	c.(163-165)Cct>Tct	p.P55S	CREBRF_uc003mcf.3_Missense_Mutation_p.P55S|CREBRF_uc003mcg.3_Missense_Mutation_p.P55S|CREBRF_uc011dfd.1_Missense_Mutation_p.P55S	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	55							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CCAACAGAATCCTAGAGACAA	0.373000														20			18		0	0	0.007413	0	0
ZNF749	388567	broad.mit.edu	37	19	57955356	57955356	+	Silent	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:57955356A>G	uc002qoq.2	+	2	1094	c.840A>G	c.(838-840)tcA>tcG	p.S280S		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		GCTTTCTTTCAAAAAGGTCTG	0.448000														46			24		0	0	0.003330	0	0
LRP4	4038	broad.mit.edu	37	11	46916348	46916348	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46916348G>A	uc001ndn.4	-	11	1575	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	444					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.F444F(2)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCGATTGGCGAACAGCAGCA	0.562000														52			24		0	0	0.004656	0	0
KIAA1383	54627	broad.mit.edu	37	1	232942489	232942489	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232942489A>C	uc001hvh.2	+	0	1852	c.1720A>C	c.(1720-1722)Aag>Cag	p.K574Q		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	432										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GACTGAGGATAAGAAGTCACC	0.448000														55			11		0	0	0.010729	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427288	38427288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:38427288C>T	uc003jlc.2	+	13	2334	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S663F|EGFLAM_uc003jle.2_Missense_Mutation_p.S429F|EGFLAM_uc003jlf.2_Missense_Mutation_p.S29F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	663	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse		p.S663S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTTCCTGTCCATCAACTTG	0.527000														120			65		0	0	0.014410	0	0
LAMB2	3913	broad.mit.edu	37	3	49159424	49159424	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:49159424G>C	uc003cwe.3	-	28	5175	c.4876C>G	c.(4876-4878)Cgg>Ggg	p.R1626G	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1626	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R1626P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGCCCCCCGGATGGCACCC	0.607000														63			36		0	0	0.005524	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092819	147092819	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:147092819G>A	uc003weu.2	+	9	2133	c.1617G>A	c.(1615-1617)agG>agA	p.R539R	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	539	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAAAGGAAGCCGGGAA	0.433000										HNSCC(39;0.1)				92			41		0	0	0.009718	0	0
DMGDH	29958	broad.mit.edu	37	5	78338173	78338173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:78338173G>A	uc003kfs.3	-	6	1132	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	DMGDH_uc011cte.1_Missense_Mutation_p.P226S|DMGDH_uc011ctf.1_Missense_Mutation_p.P175S|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	376					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAATGTCAGGAGAATACGTG	0.438000														21			20		0	0	0.008871	0	0
TG	7038	broad.mit.edu	37	8	133941344	133941344	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:133941344C>G	uc003ytw.3	+	22	4764	c.4723C>G	c.(4723-4725)Cca>Gca	p.P1575A	TG_uc010mdw.3_Missense_Mutation_p.P334A|TG_uc011ljb.2_Missense_Mutation_p.P8A|TG_uc003ytx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1575					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)		TGAGAAGGTTCCAGAATCAAA	0.453000														41			30		0	0	0.009535	0	0
TMEM104	54868	broad.mit.edu	37	17	72832438	72832438	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:72832438A>G	uc002jls.4	+	9	1265	c.1103A>G	c.(1102-1104)aAc>aGc	p.N368S	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Missense_Mutation_p.N368S	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	368						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ATCAGCACCAACTTCCCCATC	0.622000														119			52		0	0	0.014410	0	0
ASTN2	23245	broad.mit.edu	37	9	119202937	119202937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:119202937C>T	uc004bjt.2	-	20	3681	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	ASTN2_uc022bml.1_Missense_Mutation_p.E890K|ASTN2_uc022bmm.1_Missense_Mutation_p.E894K|ASTN2_uc004bjp.2_Missense_Mutation_p.E346K|ASTN2_uc011lxr.2_Missense_Mutation_p.E297K|ASTN2_uc011lxs.2_Missense_Mutation_p.E297K|ASTN2_uc011lxt.2_Missense_Mutation_p.E297K|ASTN2_uc004bjq.2_Missense_Mutation_p.E297K	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1245						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAAACTTTTCATAGTGAGAG	0.512000														31			22		0	0	0.002780	0	0
VPS13D	55187	broad.mit.edu	37	1	12337809	12337809	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:12337809C>T	uc001atv.3	+	18	4305	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I	VPS13D_uc001atw.3_Silent_p.I1388I|VPS13D_uc001atx.3_Silent_p.I576I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1388					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGTTTCTATCCCTCGGAAGC	0.438000														44			14		0	0	0.001855	0	0
CALCR	799	broad.mit.edu	37	7	93098045	93098045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:93098045C>T	uc003umv.2	-	7	857	c.557G>A	c.(556-558)gGg>gAg	p.G186E	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.G168E|CALCR_uc003umw.2_Missense_Mutation_p.G168E	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	168					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CACGAAAATCCCCAGGGAAAT	0.383000														46			38		0	0	0.008740	0	0
SLC9A8	23315	broad.mit.edu	37	20	48481306	48481307	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:48481306_48481307CC>TT	uc002xuv.1	+	9	1093_1094	c.883_884CC>TT	c.(883-885)cct>TTt	p.P295F	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010gic.3_5'UTR|SLC9A8_uc010gid.3_5'UTR	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	295						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GAGGAAAACGCCTTCCTTGGAG	0.450000														64			16		0	0	0.004672	0	0
KCNC2	3747	broad.mit.edu	37	12	75445023	75445023	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:75445023G>A	uc001sxg.1	-	2	1306	c.762C>T	c.(760-762)ttC>ttT	p.F254F	KCNC2_uc009zry.3_Silent_p.F254F|KCNC2_uc001sxe.3_Silent_p.F254F|KCNC2_uc001sxf.3_Silent_p.F254F|KCNC2_uc010stw.1_Silent_p.F254F	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	254					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TAACAATATTGAAAGCTTCAT	0.343000														16			12		0	0	0.010729	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963960	39963960	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:39963960C>T	uc002olo.4	+	23	2555	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	SUPT5H_uc002olp.4_Silent_p.P792P|SUPT5H_uc002olq.4_Silent_p.P788P|SUPT5H_uc002oln.4_Silent_p.P792P|SUPT5H_uc002olr.4_Silent_p.P792P|SUPT5H_uc002ols.1_Silent_p.P415P|SUPT5H_uc010egp.1_Missense_Mutation_p.P158S	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	792	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACAGACACCCCTCCAGGATG	0.617000														70			38		0	0	0.009718	0	0
TELO2	9894	broad.mit.edu	37	16	1547053	1547053	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:1547053C>T	uc002cly.3	+	3	921	c.630C>T	c.(628-630)tcC>tcT	p.S210S	TELO2_uc010uvg.1_Silent_p.S210S	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	210						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGATTCCTCCGTGTCCTTCG	0.617000														20			16		0	0	0.004007	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232539242	232539242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232539242G>A	uc001hvg.3	-	18	5050	c.4892C>T	c.(4891-4893)cCc>cTc	p.P1631L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.P687L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1631					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACACATAAGGGCAGCTCTTG	0.577000														104			29		0	0	0.005443	0	0
KALRN	8997	broad.mit.edu	37	3	124174098	124174098	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:124174098G>A	uc003ehg.3	+	21	3748	c.3621G>A	c.(3619-3621)acG>acA	p.T1207T	KALRN_uc010hrv.1_Silent_p.T1198T|KALRN_uc003ehf.1_Silent_p.T1207T|KALRN_uc011bjy.1_Silent_p.T1198T|KALRN_uc003ehh.1_Silent_p.T553T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1207					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	p.T1207T(3)		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						TTCATGCCACGGAGATAAGGA	0.488000														34			31		0	0	0.008361	0	0
ST5	6764	broad.mit.edu	37	11	8752657	8752657	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:8752657G>A	uc001mgt.3	-	2	366	c.180C>T	c.(178-180)caC>caT	p.H60H	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Silent_p.H60H|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.H60H	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	60	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGAGCTGGAGTGGCTGGGGT	0.612000														36			22		0	0	0.010504	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657540	72657540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:72657540C>T	uc003txs.1	-	12	2372	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cattgcaggtcgataacctcc	0.502000														139			65		0	0	0.014410	0	0
TBC1D5	9779	broad.mit.edu	37	3	17202628	17202628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:17202628G>A	uc010hev.3	-	23	2545	c.2281C>T	c.(2281-2283)Cgc>Tgc	p.R761C	TBC1D5_uc010heu.3_Missense_Mutation_p.R326C|TBC1D5_uc003cbf.3_Missense_Mutation_p.R739C|TBC1D5_uc003cbe.3_Missense_Mutation_p.R739C	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	739						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGAGGGTGCGAAGAGGCTGG	0.582000														45			13		0	0	0.013537	0	0
CNGB3	54714	broad.mit.edu	37	8	87641194	87641194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:87641194C>T	uc003ydx.3	-	11	1481	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	CNGB3_uc010maj.3_Missense_Mutation_p.R340Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	478					signal transduction|visual perception	integral to membrane	cGMP binding	p.R478*(1)		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						AGTCCGAACTCGCTTTTGCAC	0.423000														130			55		0	0	0.014410	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028276	45028276	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:45028276A>C	uc010ejn.1	-	2	231	c.215T>G	c.(214-216)aTt>aGt	p.I72S	CEACAM20_uc010ejo.1_Missense_Mutation_p.I72S|CEACAM20_uc010ejp.1_Missense_Mutation_p.I72S|CEACAM20_uc010ejq.1_Missense_Mutation_p.I72S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	72	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTGACTGCAATGGAGGGTTT	0.522000														273			105		0	0	0.014410	0	0
FLJ33360	401172	broad.mit.edu	37	5	6312529	6312529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:6312529C>T	uc003jdn.1	-	1	444	c.347G>A	c.(346-348)gGg>gAg	p.G116E						Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA.																		AAGACGGGTCCCTCCAGCCTG	0.587000														2			4		0	0	0.009096	0	0
RHBDL1	9028	broad.mit.edu	37	16	727513	727513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:727513G>A	uc002cis.1	+	4	965	c.938G>A	c.(937-939)gGc>gAc	p.G313D	RHBDL1_uc002cir.1_Missense_Mutation_p.G248D|RHBDL1_uc010uun.1_Missense_Mutation_p.G248D|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	313					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GGAGGCTCCGGCGGGGTCTAC	0.721000														25			11		0	0	0.002450	0	0
TGM6	343641	broad.mit.edu	37	20	2375916	2375916	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:2375916A>C	uc002wfy.1	+	2	319	c.258A>C	c.(256-258)acA>acC	p.T86T	TGM6_uc010gal.1_Silent_p.T86T	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	86					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)	AGGGCTGGACAGCAGCAAGGG	0.612000														21			9		0	0	0.004482	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758574	72758574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:72758574C>T	uc004ahm.2	+	8	1860	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	415	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTGCGTTTTCATTATGCCAT	0.438000														38			22		0	0	0.002780	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819819	25819819	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:25819819A>G	uc003nfh.4	-	4	565	c.449T>C	c.(448-450)gTt>gCt	p.V150A	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.V150A|SLC17A1_uc010jqc.1_Missense_Mutation_p.V148A	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	150					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGCTGTTGCAACTATCCCCTG	0.388000														70			25		0	0	0.002780	0	0
SLC22A9	114571	broad.mit.edu	37	11	63143178	63143178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:63143178G>A	uc001nww.3	+	4	1160	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	298					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGGCTTAAAGGAACTTAGAAA	0.498000														49			19		0	0	0.006122	0	0
RYR2	6262	broad.mit.edu	37	1	237777871	237777871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:237777871G>A	uc001hyl.1	+	36	5563	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1815	4 X approximate repeats.				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			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)			AGGGACTACTGAATTCCTCTT	0.483000														243			158		0	0	0.014410	0	0
ANO5	203859	broad.mit.edu	37	11	22242716	22242716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:22242716C>T	uc001mqi.2	+	4	571	c.254C>T	c.(253-255)tCc>tTc	p.S85F	ANO5_uc001mqj.2_Missense_Mutation_p.S84F	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	85						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGTGCTTTCCTACGTTGAT	0.343000														34			9		0	0	0.008291	0	0
DNAH8	1769	broad.mit.edu	37	6	38919147	38919147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38919147C>T	uc021yzh.1	+	81	12411	c.12302C>T	c.(12301-12303)tCt>tTt	p.S4101F	DNAH8_uc003ooe.2_Missense_Mutation_p.S3884F|DNAH8_uc003oog.1_Missense_Mutation_p.S333F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.S3884Y(2)		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						ATTGCAGATTCTTTGGAGGAG	0.398000														132			110		0	0	0.014410	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307760	136307760	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:136307760C>T	uc004cdv.4	+	17	2574	c.2130C>T	c.(2128-2130)tgC>tgT	p.C710C	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Silent_p.C710C|ADAMTS13_uc004cdu.1_Silent_p.C679C|ADAMTS13_uc004cdw.4_Silent_p.C710C|ADAMTS13_uc004cdx.4_Silent_p.C679C|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.4_Silent_p.C380C|ADAMTS13_uc004cdr.1_Intron|ADAMTS13_uc004cds.1_Silent_p.C235C	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	710	TSP type-1 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACTACAGCTGCCTGGACCAGG	0.672000														17			28		0	0	0.006320	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602925	13602925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:13602925C>T	uc003gmz.1	-	9	5716	c.5599G>A	c.(5599-5601)Ggg>Agg	p.G1867R	BOD1L1_uc010idr.1_Missense_Mutation_p.G1204R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1867							DNA binding										ACATCCTCCCCTTCCTCGTCT	0.463000														61			29		0	0	0.006320	0	0
RNF17	56163	broad.mit.edu	37	13	25349023	25349023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:25349023G>A	uc001upr.3	+	2	339	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	RNF17_uc010tdd.1_Intron|RNF17_uc010tde.2_Missense_Mutation_p.E100K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E39K|RNF17_uc001upq.1_Missense_Mutation_p.E100K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	100					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)		CTCCATAATGGAAAAACTGCA	0.323000														17			9		0	0	0.008291	0	0
ALK	238	broad.mit.edu	37	2	29498286	29498286	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:29498286G>A	uc002rmy.3	-	9	2846	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	632	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S631I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TAGCAGTCCAGGCTGATGGAG	0.562000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					13			22		0	0	0.012319	0	0
ROS1	6098	broad.mit.edu	37	6	117678977	117678977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:117678977G>A	uc003pxp.1	-	23	4043	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	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.	1282					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)		CTTAAAAGAGGATATACAGAA	0.274000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									19			11		0	0	0.010729	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735092	41735092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:41735092C>T	uc003azw.3	+	8	929	c.713C>T	c.(712-714)gCc>gTc	p.A238V		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	254					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			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						GACCTGCTGGCCCCCCTGGAC	0.662000														69			41		0	0	0.006230	0	0
MACF1	23499	broad.mit.edu	37	1	39888178	39888178	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:39888178A>T	uc021olw.1	+	22	11269	c.11269A>T	c.(11269-11271)Aat>Tat	p.N3757Y	MACF1_uc021ols.1_Missense_Mutation_p.N3255Y|MACF1_uc001cdc.2_Missense_Mutation_p.N3234Y|MACF1_uc021olt.1_Missense_Mutation_p.N3255Y|MACF1_uc001cda.1_Missense_Mutation_p.N3142Y	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5322					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAGAGATCAATGCTCGATG	0.418000														33			15		0	0	0.004007	0	0
SPINK5	11005	broad.mit.edu	37	5	147469129	147469129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:147469129C>T	uc003lox.2	+	6	620	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.L155F|SPINK5_uc010jgr.2_Missense_Mutation_p.L164F|SPINK5_uc003low.2_Missense_Mutation_p.L183F|SPINK5_uc003loy.2_Missense_Mutation_p.L183F	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	183	Kazal-like 3.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCCTGTTCTTGGTCCTGA	0.463000														37			41		0	0	0.009718	0	0
DLG2	1740	broad.mit.edu	37	11	84245714	84245714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:84245714C>T	uc001paj.2	-	1	406	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	DLG2_uc010rsz.1_Missense_Mutation_p.E35K|DLG2_uc010rta.1_Missense_Mutation_p.E35K|DLG2_uc001pak.2_Missense_Mutation_p.E140K|DLG2_uc001pal.1_Missense_Mutation_p.E35K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	35						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.E35E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTCTTACTTCGTGGGTTAGT	0.398000														70			36		0	0	0.003755	0	0
BIN2	51411	broad.mit.edu	37	12	51695812	51695812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:51695812C>T	uc001ryg.3	-	4	452	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	BIN2_uc009zlz.3_Intron|BIN2_uc001ryh.3_Missense_Mutation_p.E10K|BIN2_uc010sng.2_Missense_Mutation_p.E108K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	134	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						ACCTTAATTTCACTGAACTGG	0.418000														27			9		0	0	0.004482	0	0
C8orf33	65265	broad.mit.edu	37	8	146278518	146278518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:146278518C>T	uc003zfc.4	+	2	443	c.389C>T	c.(388-390)cCc>cTc	p.P130L	C8orf33_uc003zfd.3_Non-coding_Transcript	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Homo sapiens chromosome 8 open reading frame 33 (C8orf33), mRNA.	130										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AGGCAGAAACCCACCCCGAAA	0.572000														56			20		0	0	0.008871	0	0
OTOGL	283310	broad.mit.edu	37	12	80729820	80729820	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:80729820C>T	uc001szd.3	+	37	4479	c.4473C>T	c.(4471-4473)tcC>tcT	p.S1491S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACAACTGGTCCCTTAATTGCC	0.418000														32			21		0	0	0.014323	0	0
TLL2	7093	broad.mit.edu	37	10	98192651	98192651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:98192651G>A	uc001kml.2	-	3	674	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	TLL2_uc009xvf.2_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	145					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGACCCGGGGAGAGAAGGTC	0.552000														29			22		0	0	0.012319	0	0
YPEL5	51646	broad.mit.edu	37	2	30379533	30379533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:30379533C>T	uc002rna.4	+	3	577	c.16C>T	c.(16-18)Ctt>Ttt	p.L6F	YPEL5_uc002rnb.4_Missense_Mutation_p.L6F|YPEL5_uc002rnc.4_Missense_Mutation_p.L6F|YPEL5_uc002rmz.4_Missense_Mutation_p.L6F|YPEL5_uc010ezn.3_Intron|YPEL5_uc002rnd.3_Missense_Mutation_p.L6F	NM_001127401	NP_057145	P62699	YPEL5_HUMAN	Homo sapiens yippee-like 5 (Drosophila) (YPEL5), transcript variant 1, mRNA.	6							peptide-methionine-(S)-S-oxide reductase activity	p.F5F(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CAGAATTTTCCTTGATCATAT	0.418000														46			78		0	0	0.014410	0	0
NEGR1	257194	broad.mit.edu	37	1	72076757	72076757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:72076757C>T	uc001dfw.3	-	4	968	c.740G>A	c.(739-741)gGt>gAt	p.G247D	NEGR1_uc001dfv.3_Missense_Mutation_p.G119D|NEGR1_uc010oqs.2_Missense_Mutation_p.G203D	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	247	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CACACCTGCACCTTCACATCT	0.453000														79			31		0	0	0.013726	0	0
RIMS2	9699	broad.mit.edu	37	8	105257282	105257282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:105257282G>A	uc003yls.3	+	23	3768	c.3527G>A	c.(3526-3528)gGa>gAa	p.G1176E	RIMS2_uc003ylp.3_Missense_Mutation_p.G1158E|RIMS2_uc003ylw.2_Missense_Mutation_p.G1165E|RIMS2_uc003ylq.3_Missense_Mutation_p.G972E|RIMS2_uc003ylr.3_Missense_Mutation_p.G997E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1220					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.G1176E(1)|p.G972E(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)			AGCTCAGAAGGAAAGTGAGTG	0.498000										HNSCC(12;0.0054)				52			22		0	0	0.014323	0	0
CARD11	84433	broad.mit.edu	37	7	2963920	2963920	+	Missense_Mutation	SNP	A	C	C	rs150116627		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:2963920A>C	uc003smv.3	-	14	2221	c.1887T>G	c.(1885-1887)gaT>gaG	p.D629E		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	629					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTCGTAGGCATCCAGGCCCT	0.597000			Mis		DLBCL									75			14		0	0	0.004007	0	0
CACNA1C	775	broad.mit.edu	37	12	2721185	2721185	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:2721185C>T	uc001qka.1	+	24	3186	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qki.1_Intron			Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 20, mRNA.	0					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)	CCAAGGTAGGCCTCTGAGAAA	0.527000														18			12		0	0	0.002450	0	0
SLC37A1	54020	broad.mit.edu	37	21	44000468	44000468	+	Nonstop_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:44000468T>G	uc002zbj.3	+	19	2582	c.1600T>G	c.(1600-1602)Tga>Gga	p.*534G	SLC37A1_uc002zbi.3_Nonstop_Mutation_p.*534G	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	0					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TAAGGAACAGTGACACCCCAC	0.527000														30			7		0	0	0.004482	0	0
KIF1A	547	broad.mit.edu	37	2	241689893	241689893	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:241689893T>G	uc010fzk.3	-	27	3177	c.2930A>C	c.(2929-2931)aAg>aCg	p.K977T	KIF1A_uc002vzy.3_Missense_Mutation_p.K876T|KIF1A_uc002vzz.2_Missense_Mutation_p.K977T	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	876					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTCGCCCTTCTCGCTGAC	0.657000														14			17		0	0	0.006122	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13928350	13928350	+	RNA	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	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														10			12		0	0	0.004007	0	0
VN1R5	317705	broad.mit.edu	37	1	247419901	247419901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247419901G>A	uc010pyu.2	+	1	525	c.525G>A	c.(523-525)atG>atA	p.M175I		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	176					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TCCTCAACATGTTCATTGGTG	0.488000														325			79		0	0	0.014410	0	0
SUSD1	64420	broad.mit.edu	37	9	114886619	114886619	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:114886619C>T	uc010mui.3	-	5	845	c.804G>A	c.(802-804)gaG>gaA	p.E268E	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.E268E|SUSD1_uc010muj.3_Silent_p.E268E			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	268	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCAAAGCCCTCTTGACAGA	0.517000														37			47		0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54685301	54685301	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:54685301A>T	uc021smr.1	+	15	4763	c.4763A>T	c.(4762-4764)gAt>gTt	p.D1588V	UNC13C_uc021sms.1_Missense_Mutation_p.D1590V|UNC13C_uc002acl.3_Missense_Mutation_p.D420V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1590					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAATTTGGATTTTTGGCCC	0.393000														49			20		0	0	0.010504	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455470	84455470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:84455470G>A	uc001vlk.3	-	0	1059	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	58						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTAAAACTGGGAAGTCGGGGC	0.433000														30			24		0	0	0.006320	0	0
OR4K1	79544	broad.mit.edu	37	14	20404572	20404572	+	Silent	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20404572T>A	uc001vwj.2	+	0	806	c.747T>A	c.(745-747)ctT>ctA	p.L249L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGGTCATTCTTTTCTTCGGGC	0.428000														92			25		0	0	0.003954	0	0
ZNF311	282890	broad.mit.edu	37	6	28963462	28963462	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:28963462C>T	uc003nlu.2	-	6	1828	c.1317G>A	c.(1315-1317)cgG>cgA	p.R439R	ZNF311_uc011dlk.1_Silent_p.R347R|ZNF311_uc003nlv.2_Silent_p.R347R	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AGTGTTTCTCCCGAGTATGGA	0.488000														85			32		0	0	0.004289	0	0
RAB27B	5874	broad.mit.edu	37	18	52555288	52555288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:52555288G>A	uc002lfr.3	+	4	649	c.406G>A	c.(406-408)Gac>Aac	p.D136N		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	136					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)		CAACAAGGCAGACCTACCAGA	0.433000														93			41		0	0	0.007835	0	0
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:8115874C>T	uc001ijz.3	+	5	1780	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	GATA3_uc001ika.3_Missense_Mutation_p.S407L	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	407					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							23			25		0	0	0.003330	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478851	142478851	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142478851C>T	uc011ksq.2	+	0	95	c.12C>T	c.(10-12)ctC>ctT	p.L4L	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_5'Flank					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGAATCCACTCCTGATCCTTG	0.572000														12			8		0	0	0.006214	0	0
SERPING1	710	broad.mit.edu	37	11	57369508	57369508	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:57369508G>A	uc001nkp.1	+	4	742	c.551_splice	c.e4-1	p.G184_splice	SERPING1_uc010rju.1_Splice_Site_p.G132_splice|SERPING1_uc010rjv.1_Splice_Site_p.G189_splice|SERPING1_uc001nkr.1_Splice_Site_p.G184_splice|SERPING1_uc001nks.1_Splice_Site	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	184					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TTTGTTGCAGGGGCTGGGGAG	0.557000														31			9		0	0	0.006214	0	0
HPN	3249	broad.mit.edu	37	19	35551285	35551285	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:35551285C>T	uc002nxq.2	+	8	734	c.489C>T	c.(487-489)atC>atT	p.I163I	HPN_uc002nxr.2_Silent_p.I163I|HPN_uc010xsh.1_Silent_p.I132I|HPN_uc002nxt.1_Silent_p.I47I|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	163	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)	TGGACCGCATCGTGGGAGGCC	0.692000														43			24		0	0	0.004656	0	0
TRIM21	6737	broad.mit.edu	37	11	4411334	4411334	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4411334G>A	uc001lyy.1	-	1	419	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	102					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTTCTCACAGAACAGGTGAA	0.557000														36			29		0	0	0.007291	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079780	70079780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70079780C>T	uc003heh.3	-	0	670	c.661G>A	c.(661-663)Gac>Aac	p.D221N	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	221					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AACCAAAAGTCAAAATAAAGC	0.323000														45			23		0	0	0.003954	0	0
CALML5	51806	broad.mit.edu	37	10	5541038	5541038	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:5541038T>G	uc001iic.2	-	0	496	c.364A>C	c.(364-366)Atg>Ctg	p.M122L		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	122	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding	p.M122T(1)		biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TCGCGGATCATGGCGTCCAGC	0.711000														7			7		0	0	0.003080	0	0
SYT17	51760	broad.mit.edu	37	16	19236021	19236021	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19236021C>T	uc002dfw.3	+	6	1420	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	SYT17_uc002dfx.3_Silent_p.I302I|SYT17_uc002dfy.3_Silent_p.I359I	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	363	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTGTGAAAATCCAGCTGGTGC	0.428000														37			26		0	0	0.006320	0	0
CCDC60	160777	broad.mit.edu	37	12	119957997	119957998	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119957997_119957998GG>AA	uc001txe.3	+	9	1505	c.1040_splice	c.e9+1	p.S347_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	347										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)		CTCAAATCAAGGTAGGAAAGCC	0.505000														92			43		0	0	0.004672	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914706	94914706	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:94914706T>G	uc001ydd.1	-	1	466	c.406A>C	c.(406-408)Aaa>Caa	p.K136Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	136					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.K318*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTTCCTACTTTTAGTTCGAGT	0.532000														73			80		0	0	0.014410	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236922	55236922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:55236922G>A	uc001xbb.3	+	7	2002	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	SAMD4A_uc001xbc.3_Missense_Mutation_p.G478E|SAMD4A_uc001xbg.2_Missense_Mutation_p.G157E	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	566					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						GACATATCAGGATATCGACAG	0.458000														106			50		0	0	0.014410	0	0
LTN1	26046	broad.mit.edu	37	21	30338844	30338844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:30338844G>A	uc002ymr.2	-	9	2120	c.2107C>T	c.(2107-2109)Cct>Tct	p.P703S	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	657							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGCACCGCAGGATTTTTTTGT	0.393000														37			16		0	0	0.006122	0	0
LILRB3	11025	broad.mit.edu	37	19	54802032	54802032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54802032G>A	uc002qfd.3	-	5	1248	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.P322S	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	385	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.V386V(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGTCACAGGACTCATGGGG	0.587000														107			49		0	0	0.014410	0	0
ACAA1	30	broad.mit.edu	37	3	38167134	38167134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38167134G>A	uc003cht.3	-	10	1328	c.1121C>T	c.(1120-1122)gCc>gTc	p.A374V	ACAA1_uc003chu.3_Missense_Mutation_p.A281V	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	374					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GTGCCCTAAGGCCACTGCACC	0.617000														36			16		0	0	0.004007	0	0
QKI	9444	broad.mit.edu	37	6	163987773	163987773	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:163987773C>T	uc003qui.3	+	6	1506	c.955C>T	c.(955-957)Cga>Tga	p.R319*	QKI_uc003quj.3_Nonsense_Mutation_p.R311*|QKI_uc003quh.3_3'UTR|QKI_uc003que.3_3'UTR|QKI_uc003quf.3_3'UTR|QKI_uc003qug.3_3'UTR	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	319					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TACTAAAGTTCGAAGGCACGA	0.418000														32			9		0	0	0.013537	0	0
MLL3	58508	broad.mit.edu	37	7	151878118	151878118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:151878118G>A	uc003wla.3	-	35	7046	c.6827C>T	c.(6826-6828)cCt>cTt	p.P2276L	MLL3_uc003wkz.3_Missense_Mutation_p.P1337L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2276	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGGGGCCTAGGTGTCTGGGA	0.532000			N		medulloblastoma									59			29		0	0	0.009535	0	0
ERC2	26059	broad.mit.edu	37	3	56207483	56207483	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:56207483G>A	uc021wzo.1	-	2	1280	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	ERC2_uc003dhr.1_Silent_p.I380I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	380						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.V379A(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTCATTTCGATGACAGTCT	0.468000														44			26		0	0	0.006320	0	0
MKL2	57496	broad.mit.edu	37	16	14328110	14328110	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:14328110C>T	uc010uza.2	+	8	956	c.801C>T	c.(799-801)tcC>tcT	p.S267S	MKL2_uc002dcg.3_Silent_p.S267S|MKL2_uc002dch.3_Silent_p.S256S|MKL2_uc010uzb.2_Silent_p.S216S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	256					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						ACACTGTGTCCTCAGCAAAGC	0.532000														43			19		0	0	0.007413	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														51			7		0	0	0.001984	0	0
RP1L1	94137	broad.mit.edu	37	8	10468037	10468038	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:10468037_10468038CC>TT	uc003wtc.3	-	3	3799_3800	c.3570_3571GG>AA	c.(3568-3573)acggag>acAAag	p.E1191K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1191					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGAAGTTCTCCGTCATGGCAT	0.624000														20			11		0	0	0.004672	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:26524815C>T	uc010oez.2	+	5	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CATSPER4_uc010oey.1_Silent_p.F61F|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	239					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)		TTGGTGCATTCGTGCCCAAGC	0.512000														209			113		0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103205751	103205751	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:103205751G>A	uc022ajr.1	-	33	5344	c.5184C>T	c.(5182-5184)atC>atT	p.I1728I	RELN_uc022ajq.1_Silent_p.I1728I|RELN_uc010liz.3_Silent_p.I1728I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1728					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R1727W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTAGACAGTGATCCGCTTCC	0.433000														66			32		0	0	0.004878	0	0
SHANK1	50944	broad.mit.edu	37	19	51218955	51218955	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51218955G>A	uc002psx.1	-	2	511	c.492C>T	c.(490-492)acC>acT	p.T164T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	164					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)		CATCCAGGTTGGTCTGTTTGT	0.547000														116			60		0	0	0.014410	0	0
SLC22A2	6582	broad.mit.edu	37	6	160638496	160638496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:160638496G>A	uc003qtf.3	-	10	1810	c.1636C>T	c.(1636-1638)Caa>Taa	p.Q546*		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	546					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTCTGAACTTGGAGGTAAATC	0.373000														26			6		0	0	0.004482	0	0
KIAA1383	54627	broad.mit.edu	37	1	232942560	232942561	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:232942560_232942561GG>AA	uc001hvh.2	+	0	1923_1924	c.1791_1792GG>AA	c.(1789-1794)ggggga>ggAAga	p.G598R		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	456										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GTTCTGTGGGGGGATGTGAAAA	0.421000														45			17		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179597667	179597667	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179597667G>A	uc021vsy.1	-	51	12729	c.12504C>T	c.(12502-12504)gcC>gcT	p.A4168A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A829A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5095							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)			TCTCCAAAGAGGCTGTGCCTT	0.483000														14			29		0	0	0.006320	0	0
SPAG17	200162	broad.mit.edu	37	1	118565958	118565958	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:118565958C>T	uc001ehk.2	-	27	4106	c.4038G>A	c.(4036-4038)acG>acA	p.T1346T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1346						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)		CAGATGGTATCGTTTCTGATT	0.398000														48			18		0	0	0.006122	0	0
ZNF136	7695	broad.mit.edu	37	19	12298480	12298480	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12298480C>T	uc002mti.3	+	3	1434	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZNF136_uc010xmh.2_Silent_p.F363F	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	429					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTAAAGCTTTCGTTTCTTCAA	0.383000														25			8		0	0	0.003080	0	0
AK054990	0	broad.mit.edu	37	2	131459903	131459903	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131459903C>T	uc010zan.1	+	2		c.428C>T								Homo sapiens cDNA FLJ30428 fis, clone BRACE2008941.																		CTGATTTCACCACAAGCAACT	0.473000														2			6		0	0	0.004482	0	0
TMCO4	255104	broad.mit.edu	37	1	20009900	20009900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:20009900G>A	uc001bcn.3	-	15	1780	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	TMCO4_uc001bco.1_Missense_Mutation_p.A513V|TMCO4_uc001bcp.1_Missense_Mutation_p.A473V	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	513						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTTCAGGATGGCATCCATCTG	0.672000														21			7		0	0	0.001984	0	0
PTPRO	5800	broad.mit.edu	37	12	15637040	15637040	+	Missense_Mutation	SNP	G	A	A	rs147697088		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:15637040G>A	uc001rcv.2	+	1	678	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	PTPRO_uc001rcw.2_Missense_Mutation_p.E70K|PTPRO_uc001rcu.2_Missense_Mutation_p.E70K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	70	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATTTCTTCGAATTTGAGGA	0.368000														55			20		0	0	0.010504	0	0
DNAH17	8632	broad.mit.edu	37	17	76482050	76482050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:76482050G>A	uc010dhp.2	-	45	7392	c.7267C>T	c.(7267-7269)Cca>Tca	p.P2423S		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)			ACCTGCAGTGGGACATCGGGA	0.527000														36			14		0	0	0.002450	0	0
GAS2	2620	broad.mit.edu	37	11	22747923	22747923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:22747923C>T	uc009yie.3	+	3	659	c.353C>T	c.(352-354)tCc>tTc	p.S118F	GAS2_uc001mqm.3_Missense_Mutation_p.S118F|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.S118F	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	118	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AATTTCTTATCCTGGTGCCGA	0.393000														80			29		0	0	0.013726	0	0
ADAD2	161931	broad.mit.edu	37	16	84229830	84229830	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84229830C>T	uc002fhq.2	+	8	1740	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	ADAD2_uc002fhr.2_Silent_p.V460V|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	460	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCCCTACGTCCGGACCGCCC	0.697000														60			22		0	0	0.003330	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758943	121758943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:121758943G>A	uc003ksw.1	+	3	717	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.V171M|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.V218M|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.V171M	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	171					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)		TTTTACCAAGGTGACTTCAGA	0.458000														39			37		0	0	0.006230	0	0
SEC14L5	9717	broad.mit.edu	37	16	5046880	5046880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:5046880C>T	uc002cye.2	+	7	985	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	269						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCACATCCTTCGGTTCCTGCG	0.547000														24			10		0	0	0.008291	0	0
MEGF6	1953	broad.mit.edu	37	1	3425766	3425766	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:3425766G>A	uc001akl.3	-	11	1628	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	MEGF6_uc001akk.3_Silent_p.F362F	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	467						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGGGCCGCACGAAAGGCAGCT	0.687000														5			4		0	0	0.000602	0	0
SMG5	23381	broad.mit.edu	37	1	156235791	156235791	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156235791A>G	uc001foc.4	-	11	1785	c.1636T>C	c.(1636-1638)Tca>Cca	p.S546P		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	546					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGAGCCTCTGATCTGCCCCGA	0.577000														64			10		0	0	0.013537	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217095	150217095	+	Silent	SNP	C	T	T	rs142236871	by1000genomes	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150217095C>T	uc003whk.3	+	1	163	c.33C>T	c.(31-33)atC>atT	p.I11I	GIMAP7_uc022apu.1_Silent_p.I11I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	11							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTGAGGATCGTTCTGGTAG	0.498000														49			23		0	0	0.003954	0	0
THEMIS	387357	broad.mit.edu	37	6	128151021	128151021	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:128151021C>T	uc011ebt.2	-	2	458	c.309G>A	c.(307-309)agG>agA	p.R103R	THEMIS_uc010kfa.3_Silent_p.R6R|THEMIS_uc021zfa.1_Silent_p.R103R|THEMIS_uc010kfb.3_Silent_p.R68R	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	103	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TATGAATGGTCCTTGTGATTT	0.363000														61			25		0	0	0.007291	0	0
OR4C3	256144	broad.mit.edu	37	11	48346654	48346654	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48346654G>A	uc010rhv.2	+	0	162	c.162G>A	c.(160-162)gtG>gtA	p.V54V		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	27					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						TTCTCTTTGTGGTCTTTTTGC	0.463000														55			16		0	0	0.003163	0	0
LIN7A	8825	broad.mit.edu	37	12	81205335	81205335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:81205335C>T	uc001szj.1	-	4	804	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	204					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCTGGCTGTTCGTAGCTTTTC	0.502000														16			13		0	0	0.013537	0	0
LOC401010	401010	broad.mit.edu	37	2	132201266	132201266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:132201266C>T	uc002tst.2	-	0	1202	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		ACAGACGTTTCCTTCTTGCGG	0.612000														16			22		0	0	0.012319	0	0
COL2A1	1280	broad.mit.edu	37	12	48375178	48375179	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:48375178_48375179CC>TT	uc001rqu.3	-	37	2591	c.2410_splice	c.e37-1	p.G804_splice	COL2A1_uc009zkw.3_Splice_Site|COL2A1_uc001rqv.3_Splice_Site_p.G735_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	804	Triple-helical region.		G -> A (in hypochondrogenesis).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCAACTTCTCCCTGAGGGTGG	0.653000														25			8		0	0	0.004672	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004579	41004579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:41004579G>A	uc003jmj.4	-	36	4553	c.4063C>T	c.(4063-4065)Cac>Tac	p.H1355Y	HEATR7B2_uc003jmi.4_Missense_Mutation_p.H910Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1355							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						CGAGCTAGGTGATACAGGCCT	0.403000														55			16		0	0	0.004990	0	0
MAP1A	4130	broad.mit.edu	37	15	43817994	43817994	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:43817994G>A	uc001zrt.3	+	3	4790	c.4323G>A	c.(4321-4323)aaG>aaA	p.K1441K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1441						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAAAAGACAAGGCCCTGGAAC	0.448000														28			12		0	0	0.010729	0	0
SFMBT2	57713	broad.mit.edu	37	10	7217970	7217970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:7217970G>A	uc009xio.2	-	16	2057	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	SFMBT2_uc001ijn.2_Missense_Mutation_p.H656Y|SFMBT2_uc010qay.2_Missense_Mutation_p.H491Y	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	656					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTTTTGGTATGAATGGAGCAG	0.403000														39			23		0	0	0.003954	0	0
ZNF677	342926	broad.mit.edu	37	19	53741297	53741297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:53741297G>A	uc002qbg.1	-	4	834	c.683C>T	c.(682-684)cCa>cTa	p.P228L	ZNF677_uc002qbf.1_Missense_Mutation_p.P228L	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	228					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)		AGGAGGAAGTGGTGAAACTGA	0.353000														23			21		0	0	0.008871	0	0
ODZ3	55714	broad.mit.edu	37	4	183713577	183713578	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:183713577_183713578CC>TT	uc003ivd.1	+	24	5827_5828	c.5752_5753CC>TT	c.(5752-5754)ccg>TTg	p.P1918L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1918					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)		ATACAACCCCCCGGAAAGCAAC	0.530000														46			17		0	0	0.004672	0	0
HEATR8	374977	broad.mit.edu	37	1	55118967	55118967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:55118967C>T	uc010ooe.1	+	2	692	c.368C>T	c.(367-369)cCa>cTa	p.P123L	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.P123L|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.P123L|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	123						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						CGCCTCTGTCCAGCCTCAAAC	0.572000														102			41		0	0	0.014410	0	0
VAV1	7409	broad.mit.edu	37	19	6828654	6828654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:6828654G>A	uc002mfu.1	+	11	1211	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	VAV1_uc010xjh.1_Missense_Mutation_p.E340K|VAV1_uc010dva.1_Missense_Mutation_p.E372K|VAV1_uc002mfv.1_Missense_Mutation_p.E317K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	372	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCGTGAACGAGGTCAAGCG	0.637000														158			64		0	0	0.014410	0	0
KIF13A	63971	broad.mit.edu	37	6	17837293	17837293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:17837293G>A	uc003ncg.4	-	10	1131	c.971C>T	c.(970-972)tCt>tTt	p.S324F	KIF13A_uc003ncf.3_Missense_Mutation_p.S324F|KIF13A_uc003nch.4_Missense_Mutation_p.S324F|KIF13A_uc003nci.4_Missense_Mutation_p.S324F|KIF13A_uc003ncj.3_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	324					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGCTATCATAGAGGTTTGGCT	0.458000														124			174		0	0	0.014410	0	0
POTEE	445582	broad.mit.edu	37	2	131976359	131976359	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131976359C>T	uc002tsn.2	+	0	436	c.384C>T	c.(382-384)ttC>ttT	p.F128F	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.	128							ATP binding										ACAGCGCCTTCATGGAGCCCA	0.597000														33			59		0	0	0.014410	0	0
TRIM37	4591	broad.mit.edu	37	17	57093067	57093067	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:57093067T>C	uc002iwy.4	-	20	2924	c.2480A>G	c.(2479-2481)gAc>gGc	p.D827G	TRIM37_uc002iwz.4_Missense_Mutation_p.D827G|TRIM37_uc002ixa.4_Missense_Mutation_p.D705G|TRIM37_uc010woc.2_Missense_Mutation_p.D793G	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	827						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACACTGCCGGTCTTCAGTTTT	0.502000									Mulibrey Nanism					73			51		0	0	0.014410	0	0
TRPV5	56302	broad.mit.edu	37	7	142625961	142625961	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:142625961C>T	uc003wby.1	-	6	851	c.587_splice	c.e6-1	p.G196_splice	TRPV5_uc003wbz.3_Splice_Site_p.G196_splice	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	196					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TACTGTGTTTCCTGGGGAGGA	0.552000														72			32		0	0	0.013726	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:121469308G>A	uc001tzj.1	-	2	600	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_uc001tzk.1_Silent_p.F198F	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000														260			128		0	0	0.014410	0	0
IRF8	3394	broad.mit.edu	37	16	85952177	85952177	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:85952177C>T	uc002fjh.3	+	6	813	c.756C>T	c.(754-756)ttC>ttT	p.F252F		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	252					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)				TGGTGCGCTTCCCGCCGGCCG	0.736000														29			11		0	0	0.008291	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476316	87476316	+	Silent	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:87476316A>T	uc003uje.3	-	7	954	c.579T>A	c.(577-579)atT>atA	p.I193I		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	193					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCAAAGGGAAATCCAACCAT	0.403000														100			41		0	0	0.007835	0	0
TUSC3	7991	broad.mit.edu	37	8	15601097	15601097	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:15601097A>G	uc003wwt.3	+	7	1257	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	TUSC3_uc003wwu.3_Missense_Mutation_p.K305E|TUSC3_uc022asi.1_Non-coding_Transcript	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	305					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGCAACTTCGAAAGGCGATGT	0.378000														206			92		0	0	0.014410	0	0
KLHL36	79786	broad.mit.edu	37	16	84690709	84690709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84690709C>T	uc002fig.3	+	2	437	c.296C>T	c.(295-297)gCc>gTc	p.A99V	KLHL36_uc010chl.3_Missense_Mutation_p.A98V	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	99	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGCTCAAGGCCGTGGTGGAC	0.597000														24			9		0	0	0.006214	0	0
PDE2A	5138	broad.mit.edu	37	11	72295960	72295960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:72295960C>T	uc010rrc.2	-	16	1561	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	PDE2A_uc001oso.3_Missense_Mutation_p.E418K|PDE2A_uc010rra.2_Missense_Mutation_p.E432K|PDE2A_uc001osn.3_Missense_Mutation_p.E183K|PDE2A_uc010rrb.2_Missense_Mutation_p.E430K|PDE2A_uc010rrd.2_Missense_Mutation_p.E324K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	439	GAF 2.				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)	GCCACCAGCTCATTCTGATCC	0.637000														198			103		0	0	0.014410	0	0
LGR6	59352	broad.mit.edu	37	1	202287257	202287257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:202287257C>T	uc001gxu.3	+	17	1826	c.1826C>T	c.(1825-1827)aCc>aTc	p.T609I	LGR6_uc001gxv.3_Missense_Mutation_p.T557I|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.T470I	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	609						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCGCCAACACCTTGACTGGC	0.622000														83			19		0	0	0.007413	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630423	74630423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:74630423C>T	uc002axt.2	-	8	1611	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	CYP11A1_uc002axs.2_Missense_Mutation_p.E328K|CYP11A1_uc010bjm.1_Missense_Mutation_p.E328K|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	486					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGTTGGATTTCAACTCTGAAG	0.522000														61			31		0	0	0.012213	0	0
LRRC16A	55604	broad.mit.edu	37	6	25450225	25450225	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:25450225T>G	uc011djw.2	+	6	837	c.469_splice	c.e6+2	p.G157_splice	LRRC16A_uc010jpy.3_Splice_Site_p.G157_splice|LRRC16A_uc003nez.1_5'Flank	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	157					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCCCTGTGGTGAGCATGCAT	0.507000														51			5		0	0	0.001168	0	0
FREM1	158326	broad.mit.edu	37	9	14819310	14819310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:14819310C>T	uc003zlm.3	-	14	3284	c.2468G>A	c.(2467-2469)gGa>gAa	p.G823E	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	823					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCCACCCTTCCGTGCAGAGG	0.453000														30			16		0	0	0.008871	0	0
DAB1	1600	broad.mit.edu	37	1	57476931	57476931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:57476931G>A	uc009vzx.1	-	12	1779	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	DAB1_uc001cyt.1_Missense_Mutation_p.P485S|DAB1_uc001cyq.1_Missense_Mutation_p.P485S|DAB1_uc001cyr.1_Missense_Mutation_p.P401S|DAB1_uc009vzw.1_Missense_Mutation_p.P469S|DAB1_uc001cys.1_Missense_Mutation_p.P487S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	520					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCTGTCTAGGGGCTGGGGTT	0.478000														86			41		0	0	0.013114	0	0
NAALAD2	10003	broad.mit.edu	37	11	89916124	89916124	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:89916124C>T	uc001pdf.4	+	17	2090	c.1981C>T	c.(1981-1983)Ctg>Ttg	p.L661L	NAALAD2_uc009yvx.3_Silent_p.L628L|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	661					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTGATGCTCCTGGAAAGAGC	0.408000														108			46		0	0	0.014410	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413025	19413025	+	RNA	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:19413025A>G	uc010tcj.1	-	0		c.33085T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAACCTGCACATCCATGCA	0.299000														15			3		0	0	0.009096	0	0
TNR	7143	broad.mit.edu	37	1	175355281	175355282	+	Missense_Mutation	DNP	GG	AA	AA	rs138742753		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175355281_175355282GG>AA	uc001gkp.1	-	5	1744_1745	c.1663_1664CC>TT	c.(1663-1665)ccc>TTc	p.P555F	TNR_uc009wwu.1_Missense_Mutation_p.P555F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	555	Fibronectin type-III 3.				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)					TTGGCTCAGGGGAGGCTGCAGC	0.604000														75			13		0	0	0.004672	0	0
TAF1C	9013	broad.mit.edu	37	16	84214762	84214762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84214762G>A	uc002fhn.3	-	10	1515	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	TAF1C_uc010vnz.2_Missense_Mutation_p.R93C|TAF1C_uc002fho.3_Intron|TAF1C_uc010voa.2_Missense_Mutation_p.R93C|TAF1C_uc002fhm.3_Missense_Mutation_p.R332C|TAF1C_uc010vnx.2_Missense_Mutation_p.R399C|TAF1C_uc010vny.2_Missense_Mutation_p.R16C	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	425					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCCCCAAACGAAAAAGCAAC	0.632000														39			20		0	0	0.012319	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228813	57228813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:57228813G>A	uc010lyk.1	-	1	732	c.94C>T	c.(94-96)Cca>Tca	p.P32S	SDR16C5_uc003xsy.1_Missense_Mutation_p.P32S|SDR16C5_uc010lyl.1_Missense_Mutation_p.P32S	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	32					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L31F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CGTGGCTTTGGGAGTAAGGCA	0.463000														34			25		0	0	0.004656	0	0
KIN	22944	broad.mit.edu	37	10	7820848	7820848	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:7820848T>C	uc001ijt.3	-	4	605	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Missense_Mutation_p.K65E	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	171					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCAATAAATTTGGCAGTTTTT	0.453000														87			73		0	0	0.014410	0	0
RGS22	26166	broad.mit.edu	37	8	101016247	101016247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:101016247G>A	uc003yjb.1	-	16	2729	c.2534C>T	c.(2533-2535)cCt>cTt	p.P845L	RGS22_uc003yja.1_Missense_Mutation_p.P664L|RGS22_uc003yjc.1_Missense_Mutation_p.P833L|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.P234L|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	845					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTATTCTGCAGGAACATTATC	0.373000														39			24		0	0	0.003330	0	0
CCDC60	160777	broad.mit.edu	37	12	119909856	119909856	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:119909856G>A	uc001txe.3	+	2	693	c.228G>A	c.(226-228)gaG>gaA	p.E76E	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	76										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)		TGAGGGAAGAGACTGCAAAGA	0.453000														79			40		0	0	0.010771	0	0
NEB	4703	broad.mit.edu	37	2	152410459	152410459	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:152410459C>T	uc021vrb.1	-	96	14435	c.14406G>A	c.(14404-14406)aaG>aaA	p.K4802K	NEB_uc002txr.3_Silent_p.K1268K|NEB_uc002txu.3_Silent_p.K6503K|NEB_uc021vrc.1_Silent_p.K6503K|NEB_uc010fnx.3_Silent_p.K4790K|NEB_uc021vrd.1_Silent_p.K4802K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4802					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	p.A4801A(1)		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)		TCTGGGAATCCTTGGCAGTAA	0.453000														53			86		0	0	0.014410	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234753	44234753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:44234753C>T	uc003bee.1	-	3	618	c.502G>A	c.(502-504)Gat>Aat	p.D168N	SULT4A1_uc003bed.1_Missense_Mutation_p.D89N|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	168					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TCACGCTTATCATTCATAAAC	0.572000														38			8		0	0	0.004482	0	0
KIF14	9928	broad.mit.edu	37	1	200555350	200555350	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:200555350T>C	uc010ppk.1	-	18	3559	c.3120A>G	c.(3118-3120)ttA>ttG	p.L1040L	KIF14_uc010ppj.1_Silent_p.L549L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1040	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TATGGTCTTCTAAAGCCTAAT	0.348000														159			42		0	0	0.014410	0	0
SAMD9	54809	broad.mit.edu	37	7	92734479	92734479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:92734479G>A	uc003umf.3	-	2	1202	c.932C>T	c.(931-933)cCa>cTa	p.P311L	SAMD9_uc003umg.3_Missense_Mutation_p.P311L|SAMD9_uc022ahg.1_Missense_Mutation_p.P311L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	311						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)			AGAGAACTGTGGAATAATGTC	0.333000														33			25		0	0	0.002780	0	0
FAT3	120114	broad.mit.edu	37	11	92577503	92577503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:92577503C>T	uc001pdj.4	+	17	10987	c.10970C>T	c.(10969-10971)tCc>tTc	p.S3657F	FAT3_uc001pdi.4_Missense_Mutation_p.S97F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3657					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)				GAAAATGTGTCCCCTGAGGAC	0.572000										TCGA Ovarian(4;0.039)				328			165		0	0	0.014410	0	0
GPATCH4	54865	broad.mit.edu	37	1	156566271	156566271	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156566271C>T	uc001fpm.3	-	6	397	c.349_splice	c.e6-1	p.M117_splice	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Splice_Site_p.M112_splice	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	112						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGTAGCCATCTAGGAGGGGT	0.507000														118			75		0	0	0.014410	0	0
ZFHX3	463	broad.mit.edu	37	16	72827743	72827743	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:72827743C>T	uc002fck.3	-	8	9511	c.8838G>A	c.(8836-8838)caG>caA	p.Q2946Q	ZFHX3_uc002fcl.3_Silent_p.Q2032Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2946					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)				GAAAACGTTTCTGCCCAGGCC	0.527000														67			24		0	0	0.003330	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424365	1424365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:1424365C>T	uc010nct.2	+	12	1392	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.P357L|CSF2RA_uc004cpq.2_Missense_Mutation_p.R225C|CSF2RA_uc004cpn.2_Missense_Mutation_p.P357L|CSF2RA_uc004cpo.2_Missense_Mutation_p.P357L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.P224L|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.P391L|CSF2RA_uc004cpr.2_Missense_Mutation_p.R325C	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	357						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CGGCTGTTCCCGCCAGTTCCA	0.547000														66			41		0	0	0.014410	0	0
KPRP	448834	broad.mit.edu	37	1	152732591	152732591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152732591G>A	uc001fal.1	+	1	585	c.527G>A	c.(526-528)gGa>gAa	p.G176E	KPRP_uc021ozf.1_Missense_Mutation_p.G176E	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	176	Gln-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)			CAGCCTCAGGGAAGATTCTCC	0.542000														128			23		0	0	0.002780	0	0
PEAR1	375033	broad.mit.edu	37	1	156874588	156874588	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156874588C>T	uc001fqj.1	+	2	266	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	50	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGCCTGCTCCCCTCAGAGC	0.672000														91			21		0	0	0.014323	0	0
CD5L	922	broad.mit.edu	37	1	157804522	157804522	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:157804522G>A	uc001frk.4	-	3	536	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	131					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGACTGGGGAGAAAGAGCTCT	0.567000														89			41		0	0	0.006230	0	0
SLC10A1	6554	broad.mit.edu	37	14	70252859	70252859	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:70252859G>A	uc001xlr.2	-	1	656	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	174					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ATTTGAGGACGATCCCTATGG	0.473000														74			47		0	0	0.014410	0	0
SULT1B1	27284	broad.mit.edu	37	4	70592812	70592812	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:70592812C>T	uc003hen.3	-	7	1183	c.885G>A	c.(883-885)gaG>gaA	p.E295E		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	295					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CACTTTAAATCTCTGTGCGGA	0.368000														33			17		0	0	0.007413	0	0
CCDC24	149473	broad.mit.edu	37	1	44459600	44459601	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44459600_44459601AC>CT	uc001clj.3	+	4	632_633	c.461_462AC>CT	c.(460-462)aac>aCT	p.N154T	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Missense_Mutation_p.N118T	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	154										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GACCAACTGAACGTGTCCAACA	0.564000														33			20		0	0	0.004672	0	0
TOP3B	8940	broad.mit.edu	37	22	22322018	22322018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:22322018G>A	uc002zvs.3	-	7	1244	c.809C>T	c.(808-810)gCa>gTa	p.A270V	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.A270V|TOP3B_uc010gtl.3_Missense_Mutation_p.A270V	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	270					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AAACATCTGTGCGATCTCCCG	0.502000														67			28		0	0	0.009535	0	0
CCDC141	285025	broad.mit.edu	37	2	179714852	179714852	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179714852A>C	uc002une.2	-	20	3399	c.3281T>G	c.(3280-3282)gTg>gGg	p.V1094G	CCDC141_uc002unf.1_Missense_Mutation_p.V573G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	519							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTGTTTTGTCACTATTTTCTC	0.368000														29			36		0	0	0.006999	0	0
LILRA1	11024	broad.mit.edu	37	19	55105721	55105721	+	Silent	SNP	C	T	T	rs147201880	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55105721C>T	uc002qgh.1	+	1	194	c.12C>T	c.(10-12)atC>atT	p.I4I	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.I4I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	4					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)		TGACCCCCATCGTCACAGTCC	0.582000														57			37		0	0	0.014410	0	0
HTRA1	5654	broad.mit.edu	37	10	124248988	124248988	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:124248988T>C	uc001lgj.2	+	2	751	c.623T>C	c.(622-624)aTt>aCt	p.I208T		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	208	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGGTTTATTGTGTCGGAA	0.488000														45			42		0	0	0.013114	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404226	34404226	+	RNA	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:34404226A>T	uc002edv.1	-	0		c.537T>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TGCAGGCCATAAATTATGGAG	0.517000														24			11		0	0	0.008291	0	0
RNF214	257160	broad.mit.edu	37	11	117152757	117152757	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:117152757C>T	uc001pqt.3	+	10	1528	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	RNF214_uc001pqu.3_Nonsense_Mutation_p.Q495*|RNF214_uc010rxf.2_Nonsense_Mutation_p.Q340*	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	495	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGCCCTTTCCCAGCCCAGCCA	0.612000														60			82		0	0	0.014410	0	0
FBXO42	54455	broad.mit.edu	37	1	16632330	16632330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:16632330G>A	uc001ayg.3	-	2	551	c.335C>T	c.(334-336)cCt>cTt	p.P112L	FBXO42_uc001ayf.3_Missense_Mutation_p.P19L|FBXO42_uc001ayh.3_Missense_Mutation_p.P112L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	112										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGGGGTTCCAGGATAAGGATA	0.473000														70			35		0	0	0.003755	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466705	50466705	+	Missense_Mutation	SNP	T	C	C	rs61747166		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:50466705T>C	uc001vdk.2	+	0	2161	c.1979T>C	c.(1978-1980)tTc>tCc	p.F660S						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GAAATGGAATTCAGTGGAAAT	0.413000														93			5		0	0	0.000602	0	0
ABCC8	6833	broad.mit.edu	37	11	17482080	17482080	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:17482080C>T	uc001mnc.3	-	5	1092	c.966G>A	c.(964-966)ggG>ggA	p.G322G	ABCC8_uc010rcy.1_Silent_p.G321G	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	322	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTCCACGATCCCAAAGATGC	0.607000														247			90		0	0	0.014410	0	0
TCTE1	202500	broad.mit.edu	37	6	44255358	44255358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:44255358G>A	uc003oxi.2	-	1	361	c.205C>T	c.(205-207)Cct>Tct	p.P69S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	69										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACCACTCAGGATCCTCAGCA	0.552000														84			20		0	0	0.010504	0	0
NUP107	57122	broad.mit.edu	37	12	69136223	69136224	+	Missense_Mutation	DNP	GG	AA	AA	rs141296706		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:69136223_69136224GG>AA	uc001suf.3	+	27	2874_2875	c.2759_2760GG>AA	c.(2758-2760)ggg>gAA	p.G920E	NUP107_uc001sug.3_Missense_Mutation_p.G679E|NUP107_uc010stj.2_Missense_Mutation_p.G891E	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	920					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACCCATTAGGGTATGAAATTC	0.307000														48			20		0	0	0.004672	0	0
DCTN3	11258	broad.mit.edu	37	9	34616097	34616097	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:34616097G>A	uc003zux.1	-	3	317	c.282C>T	c.(280-282)atC>atT	p.I94I	DCTN3_uc003zuw.1_Silent_p.I94I	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	94					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CCTGGGAAAGGATAAACTGCT	0.498000														27			11		0	0	0.010729	0	0
HEXDC	284004	broad.mit.edu	37	17	80399035	80399035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:80399035C>T	uc002kev.4	+	9	1561	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	HEXDC_uc002kew.3_Intron|HEXDC_uc010wvm.2_Intron	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCAGGGCTCTCCGCAGGGAGG	0.647000														124			54		0	0	0.014410	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370128	35370128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:35370128G>A	uc001byc.3	-	0	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	286					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)				CAGGCAGAAGGGACCACCAGG	0.662000														53			43		0	0	0.011902	0	0
CHD5	26038	broad.mit.edu	37	1	6166825	6166826	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:6166825_6166826CC>TA	uc001amb.2	-	38	5703_5704	c.5592_5593GG>TA	c.(5590-5595)ctggag>ctTAag	p.E1865K	CHD5_uc001alz.2_Missense_Mutation_p.E722K|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1865					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCAGCTCCTCCAGCTGGTTCA	0.668000														26			8		0	0	0.004672	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683845	3683845	+	Splice_Site	SNP	G	A	A	rs143886579		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:3683845G>A	uc002wja.3	-	5	1228	c.1228_splice	c.e5+1	p.H410_splice	SIGLEC1_uc002wiz.4_Splice_Site_p.H410_splice|SIGLEC1_uc002wjc.3_Silent_p.N320N	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	410					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						GCCTCTTACGGTTGACTACCA	0.612000														27			15		0	0	0.006122	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427944	6427944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:6427944C>T	uc001qnr.3	+	11	1457	c.1309C>T	c.(1309-1311)Ctc>Ttc	p.L437F	PLEKHG6_uc001qns.3_Missense_Mutation_p.L437F|PLEKHG6_uc010sew.2_Missense_Mutation_p.L437F|PLEKHG6_uc010sex.2_Missense_Mutation_p.L405F	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	437	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTCTGATGTGCTCCTTGTGAC	0.642000														37			22		0	0	0.014323	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835655	47835655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:47835655C>T	uc003tny.2	-	54	8321	c.8287G>A	c.(8287-8289)Gaa>Aaa	p.E2763K	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2763					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGACCTTTTCCCACATATAA	0.398000														152			39		0	0	0.006230	0	0
NOS1	4842	broad.mit.edu	37	12	117728169	117728169	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:117728169G>A	uc001twn.2	-	3	1626	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NOS1_uc021ren.1_5'UTR|NOS1_uc021reo.1_5'UTR|NOS1_uc001twm.2_Silent_p.F305F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	305					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	p.F305L(2)		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)	TGACCTTGAGGAAGCGTGGAC	0.557000														37			17		0	0	0.006122	0	0
TMC5	79838	broad.mit.edu	37	16	19460909	19460909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:19460909G>A	uc002dgc.4	+	4	1753	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	TMC5_uc010vaq.2_Missense_Mutation_p.G335E|TMC5_uc002dgb.4_Missense_Mutation_p.G335E|TMC5_uc010var.2_Missense_Mutation_p.G335E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	335						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						CATGCTTATGGAAACCCACCA	0.463000														102			50		0	0	0.014410	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624050	21624050	+	Silent	SNP	G	A	A	rs143241393		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21624050G>A	uc010tlp.2	-	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTGCTCTGCGATGGAGAAAG	0.527000														66			41		0	0	0.008740	0	0
HNF4G	3174	broad.mit.edu	37	8	76459858	76459858	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:76459858G>A	uc003yaq.3	+	3	453	c.183G>A	c.(181-183)agG>agA	p.R61R	HNF4G_uc003yap.1_Silent_p.R61R|HNF4G_uc003yar.3_Silent_p.R98R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	61					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R61fs*4(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGACAAAAGGAATCAATGTA	0.289000														105			43		0	0	0.014410	0	0
VSIG2	23584	broad.mit.edu	37	11	124619748	124619748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124619748G>A	uc001qas.3	-	3	518	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	VSIG2_uc001qat.3_Missense_Mutation_p.P148S	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	148	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGCATAAGGGATTACTGGGG	0.478000														23			21		0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	70949780	70949780	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:70949780C>T	uc001swb.4	-	16	4239	c.4209G>A	c.(4207-4209)ctG>ctA	p.L1403L	PTPRB_uc010sto.2_Silent_p.L1313L|PTPRB_uc010stp.2_Silent_p.L1313L|PTPRB_uc001swc.4_Silent_p.L1621L|PTPRB_uc001swa.4_Silent_p.L1533L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1403	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTCTTTCTCCAGCTTTCTGG	0.478000														45			17		0	0	0.008871	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792324	38792324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38792324G>A	uc002hux.2	-	6	524	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	SMARCE1_uc010wff.1_Missense_Mutation_p.H99Y|SMARCE1_uc010wfg.1_Missense_Mutation_p.H64Y|SMARCE1_uc002huy.2_Missense_Mutation_p.H99Y|SMARCE1_uc010wfh.1_Missense_Mutation_p.H64Y|SMARCE1_uc010wfi.1_Missense_Mutation_p.H116Y|SMARCE1_uc010wfj.1_Missense_Mutation_p.H116Y	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	134					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GGGGAATTATGATAGGCCTTC	0.373000														69			20		0	0	0.003330	0	0
WDR34	89891	broad.mit.edu	37	9	131418973	131418973	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:131418973G>A	uc004bvq.1	-	0	157	c.33C>T	c.(31-33)agC>agT	p.S11S		NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	11						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTCCCGCCTGGCTGAGTGGCC	0.761000														3			5		0	0	0.001984	0	0
NTRK2	4915	broad.mit.edu	37	9	87482207	87482207	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:87482207T>C	uc004aoa.1	+	14	2384	c.1446T>C	c.(1444-1446)caT>caC	p.H482H	NTRK2_uc004any.1_Silent_p.H482H|NTRK2_uc004anz.1_Silent_p.H498H|NTRK2_uc011lsz.2_Silent_p.H498H|NTRK2_uc011lta.2_Silent_p.H482H|NTRK2_uc004aoc.3_Silent_p.H33H	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	482					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GCCCACTCCATCACATCTCCA	0.453000										TSP Lung(25;0.17)				27			23		0	0	0.006320	0	0
POU6F2	11281	broad.mit.edu	37	7	39246994	39246994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39246994C>T	uc003thb.2	+	4	429	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	POU6F2_uc022acb.1_Missense_Mutation_p.L96F|POU6F2_uc010kxo.3_Missense_Mutation_p.L88F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	96					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTGCAGCCACTTCTGACGGC	0.532000														229			32		0	0	0.003271	0	0
MMP12	4321	broad.mit.edu	37	11	102736603	102736603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:102736603G>A	uc001phk.3	-	8	1203	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	370	Hemopexin-like 2.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAAACCAAAAGAATGTATGCT	0.328000														41			14		0	0	0.003163	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590624	136590624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:136590624C>T	uc003qgx.1	-	8	2423	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Missense_Mutation_p.E722K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E722K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E551K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	724					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)		GGAGTTTTTTCCTGCTTTCTT	0.393000														74			6		0	0	0.001984	0	0
EPHA8	2046	broad.mit.edu	37	1	22927217	22927217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:22927217G>A	uc001bfx.1	+	13	2577	c.2452G>A	c.(2452-2454)Gcc>Acc	p.A818T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	818	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTTCTCCTCGGCCAGCGACGT	0.662000														81			21		0	0	0.010504	0	0
FAP	2191	broad.mit.edu	37	2	163044759	163044759	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:163044759A>C	uc002ucd.3	-	19	1942	c.1734T>G	c.(1732-1734)gcT>gcG	p.A578A	FAP_uc010fpc.3_Silent_p.A127A|FAP_uc010zct.2_Silent_p.A553A	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	578					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACCTTGGAAAGCTGTTCCTC	0.443000														34			77		0	0	0.014410	0	0
PNPLA8	50640	broad.mit.edu	37	7	108143074	108143074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:108143074G>A	uc003vff.1	-	5	1626	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	PNPLA8_uc003vfi.1_Missense_Mutation_p.P307S|PNPLA8_uc003vfh.1_Missense_Mutation_p.P407S|PNPLA8_uc003vfj.1_Missense_Mutation_p.P407S|PNPLA8_uc003vfk.1_Missense_Mutation_p.P307S	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	407					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.I406F(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AATAAATATGGAATAATTCTT	0.343000														28			11		0	0	0.010729	0	0
EPHA7	2045	broad.mit.edu	37	6	93965744	93965744	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:93965744C>T	uc003poe.3	-	12	2425	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	EPHA7_uc003pof.3_Silent_p.G723G|EPHA7_uc011eac.2_Silent_p.G724G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	728	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGTAAATTGCCCATCATGTT	0.398000														47			10		0	0	0.013537	0	0
OR51E1	143503	broad.mit.edu	37	11	4673853	4673853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:4673853C>T	uc021qcq.1	+	0	97	c.97C>T	c.(97-99)Cca>Tca	p.P33S	OR51E1_uc001lzi.4_Missense_Mutation_p.P33S	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGGCCTTCCCATTGTGCTC	0.468000														69			46		0	0	0.014410	0	0
GTF2B	2959	broad.mit.edu	37	1	89322963	89322963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:89322963C>T	uc001dmo.4	-	5	862	c.743G>A	c.(742-744)aGg>aAg	p.R248K		NM_001514	NP_001505	Q00403	TF2B_HUMAN	Homo sapiens general transcription factor IIB (GTF2B), mRNA.	248					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	p.R248M(2)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GATGGGGCTCCTCCCAGGAAC	0.507000														51			30		0	0	0.007291	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312912	153312912	+	Missense_Mutation	SNP	G	A	A	rs142296774		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:153312912G>A	uc001fbo.3	-	6	834	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R253W	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	257					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGATGTCCCGGACCAGCAGG	0.542000														84			49		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179594491	179594491	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179594491G>A	uc021vsy.1	-	59	14982	c.14757C>T	c.(14755-14757)ttC>ttT	p.F4919F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1580F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5846	Ig-like 29.						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)			CAGAAATCTGGAAAGTGGCTA	0.458000														44			84		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179590142	179590143	+	Missense_Mutation	DNP	TT	GG	GG			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179590142_179590143TT>GG	uc021vsy.1	-	67	17281_17282	c.17056_17057AA>CC	c.(17056-17058)aag>CCg	p.K5686P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K2347P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6613	Ig-like 37.						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)			ACCATCATTCTTGATTTGGCAG	0.416000														8			13		0	0	0.004672	0	0
C15orf44	81556	broad.mit.edu	37	15	65890674	65890674	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:65890674T>A	uc010uix.2	-	5	1229	c.841A>T	c.(841-843)Aaa>Taa	p.K281*	C15orf44_uc002apd.3_Nonsense_Mutation_p.K245*|C15orf44_uc010uja.2_Nonsense_Mutation_p.K228*|C15orf44_uc010ujb.2_Nonsense_Mutation_p.K188*|C15orf44_uc002ape.4_Nonsense_Mutation_p.K245*|C15orf44_uc010uiy.2_Nonsense_Mutation_p.K166*|C15orf44_uc010uiz.2_Nonsense_Mutation_p.K209*			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	245										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TTAATGACTTTAGGGATAGGA	0.373000														44			11		0	0	0.013537	0	0
GPR108	56927	broad.mit.edu	37	19	6733259	6733259	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:6733259G>A	uc002mfp.3	-	8	823	c.777C>T	c.(775-777)ccC>ccT	p.P259P	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	259						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCTTGAAAAGGGGCATCTCCG	0.647000														46			26		0	0	0.008361	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030311	95030311	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:95030311G>A	uc010avd.3	+	1	877	c.603G>A	c.(601-603)gaG>gaA	p.E201E	SERPINA4_uc001ydk.3_Silent_p.E164E|SERPINA4_uc001ydl.3_Silent_p.E164E	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	164					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)		CCGTCTATGAGGCTAAACTCT	0.517000														29			40		0	0	0.009718	0	0
OR56A4	120793	broad.mit.edu	37	11	6023588	6023588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:6023588G>A	uc010qzv.2	-	0	791	c.791C>T	c.(790-792)tCt>tTt	p.S264F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATAAGATCAGAGCCCAACAG	0.463000														25			16		0	0	0.003163	0	0
CSMD2	114784	broad.mit.edu	37	1	34209001	34209001	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:34209001G>A	uc001bxm.1	-	13	2230	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L	CSMD2_uc001bxn.1_Silent_p.L645L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	645	CUB 4.					integral to membrane|plasma membrane	protein binding	p.T684I(1)		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)				AAGGTGCCCAGGACGGGCGCC	0.617000														48			26		0	0	0.006320	0	0
APOB	338	broad.mit.edu	37	2	21224685	21224685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21224685C>T	uc002red.3	-	28	13737	c.13609G>A	c.(13609-13611)Gag>Aag	p.E4537K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4537					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.T4536T(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)	TTCAGTAACTCCGTGATGTAT	0.358000														228			436		0	0	0.014410	0	0
CLVS1	157807	broad.mit.edu	37	8	62412051	62412051	+	Missense_Mutation	SNP	G	A	A	rs35623706		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:62412051G>A	uc003xuh.3	+	5	1339	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	339					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTGAAACATGAGGAGAAGGG	0.498000														45			17		0	0	0.004990	0	0
OR4C3	256144	broad.mit.edu	37	11	48346626	48346626	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48346626A>G	uc010rhv.2	+	0	134	c.134A>G	c.(133-135)aAc>aGc	p.N45S		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	18					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						CTCTCACAGAACTCAGAGGTA	0.453000														53			21		0	0	0.003330	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3941087	3941087	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:3941087C>T	uc010xia.2	+	5	643	c.429C>T	c.(427-429)gtC>gtT	p.V143V	ITGB1BP3_uc002lyz.4_Silent_p.V138V	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	138					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	p.P142P(1)|p.G143S(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTACACAGTCCCTGATCCCC	0.582000														108			48		0	0	0.014410	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834401	125834401	+	Silent	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:125834401T>G	uc001uhe.1	+	1	464	c.456T>G	c.(454-456)ctT>ctG	p.L152L	TMEM132B_uc021rgl.1_Silent_p.L42L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	152						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACAGTGACCTTACGGAAGATC	0.542000														103			42		0	0	0.009718	0	0
OR13C3	138803	broad.mit.edu	37	9	107298193	107298193	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:107298193T>A	uc004bcb.1	-	0	902	c.902A>T	c.(901-903)gAa>gTa	p.E301V		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTGCAATTTTTCTTCCCCAAT	0.403000														22			40		0	0	0.006999	0	0
EFHD2	79180	broad.mit.edu	37	1	15736621	15736621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:15736621G>A	uc001awh.2	+	0	231	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	52						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGCGCGGACTGCGAGCT	0.776000														19			5		0	0	0.001168	0	0
HPCAL4	51440	broad.mit.edu	37	1	40149819	40149819	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:40149819G>A	uc001cdr.3	-	2	288	c.168C>T	c.(166-168)ttC>ttT	p.F56F	HPCAL4_uc010oix.2_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	56	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;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)			CGCCGTAGGGGAAGAACTGAG	0.692000														15			7		0	0	0.001984	0	0
SYNJ2	8871	broad.mit.edu	37	6	158509751	158509751	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:158509751C>G	uc003qqx.2	+	23	3509	c.3403C>G	c.(3403-3405)Cag>Gag	p.Q1135E	SYNJ2_uc003qqw.2_Missense_Mutation_p.Q1135E|SYNJ2_uc003qqy.2_Missense_Mutation_p.Q898E|SYNJ2_uc003qqz.2_Missense_Mutation_p.Q752E|SYNJ2_uc003qra.2_Missense_Mutation_p.Q478E	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1135							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CACCCATGGACAGTATTCAAT	0.502000														91			47		0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38891881	38891881	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:38891881G>A	uc021yzh.1	+	72	11014	c.10905G>A	c.(10903-10905)cgG>cgA	p.R3635R	DNAH8_uc003ooe.2_Silent_p.R3418R|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TGAGAGCACGGAAAATTCCTT	0.373000														55			28		0	0	0.006320	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:47535945C>T	uc002pfw.3	+	4	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_uc002pfy.3_Silent_p.F159F|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			25		0	0	0.006320	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111506681	111506681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:111506681G>A	uc003kpv.1	-	18	1905	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	EPB41L4A_uc003kpp.1_Missense_Mutation_p.P171L|EPB41L4A_uc003kpu.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	544						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.P544P(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGATATCGGGGCTTCTCCT	0.333000														47			20		0	0	0.012319	0	0
SEPT6	23157	broad.mit.edu	37	X	118786936	118786936	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:118786936G>A	uc004erv.3	-	3	674	c.409C>T	c.(409-411)Cga>Tga	p.R137*	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Nonsense_Mutation_p.R137*|SEPT6_uc004ert.3_Nonsense_Mutation_p.R137*|SEPT6_uc004eru.3_Nonsense_Mutation_p.R137*|SEPT6_uc004erw.3_Nonsense_Mutation_p.R79*|SEPT6_uc011mtv.1_Nonsense_Mutation_p.R79*|SEPT6_uc011mtw.1_Nonsense_Mutation_p.R167*	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	137					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						AGCACTCTTCGGATCTTTAGC	0.512000			T	MLL	AML									14			27		0	0	0.009535	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:146825806T>A	uc003weu.2	+	6	1477	c.961T>A	c.(961-963)Ttc>Atc	p.F321I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	321	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGCATCCCTTTCTCTGGCAA	0.393000										HNSCC(39;0.1)				76			31		0	0	0.010818	0	0
ARSJ	79642	broad.mit.edu	37	4	114823887	114823887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:114823887G>A	uc003ibq.1	-	1	2231	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	ARSJ_uc010imu.1_Missense_Mutation_p.A448V|ARSJ_uc010imv.1_Missense_Mutation_p.A276V	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	448						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CACTCTGATGGCTGACTGGAT	0.522000														67			34		0	0	0.004878	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144061193	144061193	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:144061193G>A	uc003wel.3	+	1	1549	c.1431G>A	c.(1429-1431)aaG>aaA	p.K477K	ARHGEF5_uc003wek.3_Silent_p.K477K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	477					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CACCTGACAAGGAAATAGATC	0.547000														54			11		0	0	0.004990	0	0
CHRM3	1131	broad.mit.edu	37	1	240071954	240071954	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:240071954G>A	uc021plc.1	+	0	1203	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L	CHRM3_uc001hyp.3_Silent_p.L401L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	401					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)	TGGTGGACTTGGAGAGGAAAG	0.572000														23			13		0	0	0.001855	0	0
P2RX3	5024	broad.mit.edu	37	11	57115696	57115696	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:57115696G>A	uc001nju.3	+	4	628	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	148					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						GGACCTGTGAGATCCAGGGCT	0.622000														20			8		0	0	0.010729	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121187	114121187	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:114121187C>T	uc001pop.3	+	6	2196	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	ZBTB16_uc001poq.3_Silent_p.S644S	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	644					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCCTCTCCTCCATGCAGAAGC	0.607000														19			13		0	0	0.013537	0	0
GPR31	2853	broad.mit.edu	37	6	167571071	167571071	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:167571071G>A	uc011egq.2	-	0	249	c.249C>T	c.(247-249)ggC>ggT	p.G83G		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	83						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACGGCCCAGATGCC	0.672000														15			10		0	0	0.006214	0	0
BPTF	2186	broad.mit.edu	37	17	65955759	65955759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:65955759C>T	uc002jgf.3	+	23	8090	c.8029C>T	c.(8029-8031)Cct>Tct	p.P2677S	BPTF_uc002jge.3_Missense_Mutation_p.P2660S|BPTF_uc021uca.1_Missense_Mutation_p.P477S|BPTF_uc002jgg.3_Missense_Mutation_p.P334S|BPTF_uc002jgh.3_Missense_Mutation_p.P136S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2803					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.A2676A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACAccagctcctccagcccc	0.582000														21			15		0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216465577	216465577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:216465577G>A	uc001hku.1	-	9	2167	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	USH2A_uc001hkv.3_Missense_Mutation_p.P594S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	594	Laminin EGF-like 2.				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)		TGCTCAAAAGGAAATGGGTCT	0.433000										HNSCC(13;0.011)				129			25		0	0	0.005443	0	0
GCM2	9247	broad.mit.edu	37	6	10875048	10875048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:10875048G>A	uc003mzn.4	-	4	773	c.701C>T	c.(700-702)tCc>tTc	p.S234F	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	234					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTTGGGAAGGAAGGGCAAGG	0.453000														73			56		0	0	0.014410	0	0
TEX15	56154	broad.mit.edu	37	8	30699874	30699874	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:30699874C>T	uc003xil.3	-	0	6660	c.6660G>A	c.(6658-6660)agG>agA	p.R2220R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2220										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)		CTAAATCTTTCCTAGGGGCAG	0.338000														83			31		0	0	0.009535	0	0
PXDNL	137902	broad.mit.edu	37	8	52323826	52323826	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:52323826C>T	uc003xqu.4	-	15	2147	c.2046G>A	c.(2044-2046)gtG>gtA	p.V682V	PXDNL_uc003xqt.4_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	682					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTCCAAGTCCACAGTGAGCC	0.507000														8			4		0	0	0.009096	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270431	1270431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:1270431G>A	uc002cks.3	+	34	6747	c.6499G>A	c.(6499-6501)Gag>Aag	p.E2167K	CACNA1H_uc002ckt.3_Missense_Mutation_p.E2161K|CACNA1H_uc002cku.3_Missense_Mutation_p.E862K|CACNA1H_uc010brj.3_Missense_Mutation_p.E878K|CACNA1H_uc002ckv.3_Missense_Mutation_p.E856K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2167					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)	GGAGCCTGGGGAGGCGAAGGC	0.711000														27			11		0	0	0.013537	0	0
RCAN3	11123	broad.mit.edu	37	1	24861718	24861718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:24861718C>T	uc021ojc.1	+	4	849	c.677C>T	c.(676-678)cCt>cTt	p.P226L	RCAN3_uc021ojd.1_Missense_Mutation_p.P101L|RCAN3_uc021oje.1_Missense_Mutation_p.P226L|RCAN3_uc001bjj.3_Missense_Mutation_p.P226L|RCAN3_uc009vre.3_Missense_Mutation_p.P168L|RCAN3_uc021ojf.1_Missense_Mutation_p.P101L|RCAN3_uc021ojg.1_Missense_Mutation_p.P226L|RCAN3_uc009vrg.3_Missense_Mutation_p.L111F|RCAN3_uc009vrd.3_Missense_Mutation_p.P216L|RCAN3_uc009vrf.3_Missense_Mutation_p.L169F	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	226					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CGCCCCGACCCTCCGACCGCA	0.587000														32			15		0	0	0.004990	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401326	23401326	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:23401326A>C	uc003swg.3	-	3	586	c.320T>G	c.(319-321)gTg>gGg	p.V107G		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	107	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ACAGCTCTCCACCACTCCATA	0.373000														49			56		0	0	0.014410	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220344458	220344458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:220344458G>A	uc010puk.1	-	23	2746	c.2582C>T	c.(2581-2583)tCc>tTc	p.S861F	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.S861F|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S441F	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	861					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACTGTTTGGGAAAACTAATA	0.408000														57			25		0	0	0.003330	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860504	43860504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:43860504G>A	uc010skx.2	-	8	1318	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	440	Peptidase M12B.					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)		CAGCTCCAAGGACTCATGTGA	0.318000														54			30		0	0	0.013726	0	0
TFF1	7031	broad.mit.edu	37	21	43783428	43783428	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:43783428G>A	uc002zax.1	-	1	214	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	58	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CGGTGTCGTCGAAACAGCAGC	0.517000														45			17		0	0	0.004007	0	0
TAAR8	83551	broad.mit.edu	37	6	132873887	132873887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:132873887G>A	uc011ecj.2	+	0	56	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	19						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GATGTGAATGGATCTTGTATT	0.433000														77			23		0	0	0.014323	0	0
CLDN8	9073	broad.mit.edu	37	21	31587917	31587917	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:31587917C>T	uc002ynu.2	-	0	553	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	109					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TCTCATTGTCCCCCGTGCACC	0.542000														19			11		0	0	0.008291	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954075	32954075	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:32954075A>C	uc002hif.3	+	3	1056	c.728_splice	c.e3+1	p.R243_splice		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	243						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTTCACACTCAGGTAGTAGGG	0.617000														45			23		0	0	0.005443	0	0
SVEP1	79987	broad.mit.edu	37	9	113169251	113169251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:113169251C>T	uc010mtz.3	-	37	8966	c.8629G>A	c.(8629-8631)Gga>Aga	p.G2877R	SVEP1_uc010mty.3_Missense_Mutation_p.G803R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2877	Sushi 24.				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						CTCCAACTTCCATTGGCAAGA	0.537000														22			19		0	0	0.007413	0	0
TAF1D	79101	broad.mit.edu	37	11	93464361	93464361	+	RNA	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:93464361T>G	uc001pec.3	-	2		c.3674A>C			TAF1D_uc001pdz.3_Non-coding_Transcript|SNORA8_uc009ywe.3_Non-coding_Transcript			Q9H5J8	TAF1D_HUMAN	Homo sapiens cDNA: FLJ23363 fis, clone HEP15507.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATGGATATACTGATGAAGACT	0.299000														23			15		0	0	0.002450	0	0
WNT3A	89780	broad.mit.edu	37	1	228210554	228210554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:228210554G>A	uc001hrp.2	+	1	365	c.258G>A	c.(256-258)tgG>tgA	p.W86*	WNT3A_uc001hrq.2_Nonsense_Mutation_p.W86*	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	86					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCGCCGGTGGAACTGCACCA	0.642000														57			30		0	0	0.008361	0	0
ABCC9	10060	broad.mit.edu	37	12	21960391	21960391	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:21960391C>T	uc001rfh.3	-	35	4358	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	ABCC9_uc001rfi.1_Silent_p.G1446G	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1446	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	p.G1446W(1)		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)	TAAAATTCTCCCCACCTTCAG	0.418000														51			17		0	0	0.006122	0	0
FGD5	152273	broad.mit.edu	37	3	14939084	14939084	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:14939084G>A	uc003bzc.3	+	4	2927	c.2817G>A	c.(2815-2817)cgG>cgA	p.R939R	FGD5_uc011avk.2_Silent_p.R939R|FGD5_uc003bzd.3_Silent_p.R17R	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	939	DH.				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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATTGGCCCGGGAGGAGCTGA	0.552000														5			4		0	0	0.009096	0	0
ZBTB41	360023	broad.mit.edu	37	1	197147566	197147566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:197147566G>A	uc001gtx.1	-	5	1822	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R585C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTTCCATGACGAAAACTTTGC	0.299000														75			12		0	0	0.002450	0	0
CYFIP1	23191	broad.mit.edu	37	15	22940812	22940812	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:22940812C>T	uc001yus.3	+	10	1181	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	CYFIP1_uc001yut.3_Silent_p.F359F|CYFIP1_uc010aya.1_Silent_p.F387F	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	359					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)		ACATGCGCTTCATTTCGGAGC	0.607000														24			12		0	0	0.002450	0	0
OBSCN	84033	broad.mit.edu	37	1	228505630	228505631	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:228505630_228505631CC>TT	uc009xez.1	+	52	13931_13932	c.13887_13888CC>TT	c.(13885-13890)gcccct>gcTTct	p.P4630S	OBSCN_uc001hsn.3_Missense_Mutation_p.P4630S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4630	Ig-like 47.				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)				AGCCCTCAGCCCCTGAGAGCCG	0.634000														40			27		0	0	0.004672	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422892	11422892	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:11422892G>A	uc002mqv.1	+	5	831	c.681G>A	c.(679-681)gtG>gtA	p.V227V	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	227						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAGCTGCAGTGATACAGGTAA	0.478000														19			9		0	0	0.006214	0	0
RGS6	9628	broad.mit.edu	37	14	72936762	72936762	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:72936762C>T	uc001xna.4	+	7	1030	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RGS6_uc021rvv.1_Silent_p.F134F|RGS6_uc010ttn.2_Silent_p.F169F|RGS6_uc021rvw.1_Silent_p.F169F|RGS6_uc021rvx.1_Silent_p.F169F|RGS6_uc021rvy.1_Silent_p.F169F|RGS6_uc021rvz.1_Silent_p.F169F|RGS6_uc001xmy.4_Silent_p.F169F|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.F169F|RGS6_uc021rwa.1_Silent_p.F169F|RGS6_uc021rwb.1_Silent_p.F169F|RGS6_uc010ttp.1_Silent_p.F100F|RGS6_uc021rwc.1_Silent_p.F30F|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	169					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGTGGGAATTCATCTTTATGC	0.413000														25			16		0	0	0.006122	0	0
MUC5B	727897	broad.mit.edu	37	11	1267455	1267455	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:1267455G>A	uc001lta.3	+	30	9404	c.9345G>A	c.(9343-9345)acG>acA	p.T3115T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3115	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		AGGCCACCACGACAAGGGCCA	0.622000														42			17		0	0	0.004990	0	0
NTNG1	22854	broad.mit.edu	37	1	107867320	107867320	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:107867320C>T	uc001dvh.4	+	2	1381	c.663C>T	c.(661-663)atC>atT	p.I221I	NTNG1_uc001dvc.4_Silent_p.I221I|NTNG1_uc010out.2_Silent_p.I221I|NTNG1_uc001dvf.4_Silent_p.I221I|NTNG1_uc001dvd.1_Silent_p.I221I	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	221	Laminin N-terminal.				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)		GCAAAATAATCCACTTTGAAA	0.423000														53			17		0	0	0.004990	0	0
PRB2	653247	broad.mit.edu	37	12	11546774	11546774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:11546774C>T	uc010shk.1	-	2	273	c.238G>A	c.(238-240)Gga>Aga	p.G80R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.612000														213			88		0	0	0.014410	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181159	19181159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:19181159C>T	uc001bba.1	-	2	806	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	269					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)	ACGACGCGCGCTGTGCTCTGC	0.622000														23			13		0	0	0.002450	0	0
C8orf80	389643	broad.mit.edu	37	8	27925067	27925067	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:27925067G>A	uc003xgm.4	-	5	818	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	225						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TGGAGGTGGGGATCTTCCTTT	0.483000														15			7		0	0	0.001984	0	0
DCC	1630	broad.mit.edu	37	18	50432669	50432669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:50432669G>A	uc002lfe.2	+	2	1284	c.668G>A	c.(667-669)gGa>gAa	p.G223E	DCC_uc010xdr.1_Missense_Mutation_p.G71E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	223	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G223R(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)		TCAAGAACAGGAAATGAAGCA	0.428000														30			13		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9057584	9057584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9057584C>T	uc002mkp.3	-	2	30066	c.29862G>A	c.(29860-29862)atG>atA	p.M9954I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9956	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						TGGTGATGGTCATTTGTGTTG	0.498000														231			97		0	0	0.014410	0	0
FLAD1	80308	broad.mit.edu	37	1	154956339	154956339	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:154956339C>T	uc001fgf.2	+	0	570	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	FLAD1_uc001fgc.3_5'UTR|FLAD1_uc001fgd.2_Silent_p.L57L|FLAD1_uc001fge.2_5'UTR|FLAD1_uc001fgg.2_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	57					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			CCAGGACCCCCTGTTCCCAGG	0.627000														58			21		0	0	0.010504	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202494	47202494	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:47202494G>A	uc003oyv.3	-	4	2083	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	550					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACTCATCCACGAAGAAGCCCT	0.597000														14			4		0	0	0.000602	0	0
ACP6	51205	broad.mit.edu	37	1	147124277	147124277	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:147124277A>C	uc001epr.2	-	6	1320	c.856T>G	c.(856-858)Ttg>Gtg	p.L286V	ACP6_uc009wjj.1_3'UTR	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	286					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	p.L286L(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTATGTACAAGGATGTGTCC	0.512000														55			29		0	0	0.007291	0	0
OR5D18	219438	broad.mit.edu	37	11	55587477	55587477	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:55587477C>T	uc010rin.2	+	0	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				ATGACCGCTTCGTGGCCATTT	0.458000														117			37		0	0	0.006230	0	0
ZNF799	90576	broad.mit.edu	37	19	12502860	12502860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12502860G>A	uc010dyt.3	-	3	556	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	118					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						TAACAATTAAGGGATGAATGA	0.438000														51			38		0	0	0.006999	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774476	89774476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:89774476G>A	uc010rua.2	+	7	1446	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	373	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GAAGATAGATGGAAAGGAGGG	0.423000														38			9		0	0	0.008291	0	0
ALPK2	115701	broad.mit.edu	37	18	56205350	56205350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:56205350G>A	uc002lhj.4	-	4	2283	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	ALPK2_uc002lhk.1_Missense_Mutation_p.S21F	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	690							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTTGAGAAGGAAATTGTTGT	0.493000														27			11		0	0	0.008291	0	0
CNTN3	5067	broad.mit.edu	37	3	74411041	74411041	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:74411041C>T	uc003dpm.1	-	10	1444	c.1364_splice	c.e10+1	p.R455_splice		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	455	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATCAAAATACCTTTCATGCTC	0.448000														34			23		0	0	0.003954	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121520	12121520	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:12121520G>T	uc003nac.3	+	3	1671	c.1492G>T	c.(1492-1494)Gaa>Taa	p.E498*	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.	498					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)				GAGCGAGGAGGAAGGCGCCAC	0.502000														39			27		7.92952e-12	8.33414e-12	0.003954	1	0
LRRC66	339977	broad.mit.edu	37	4	52861055	52861055	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:52861055G>A	uc003gzi.3	-	3	2140	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	711						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGCTCAGAGTGAACAGAGACC	0.527000														49			34		0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152784511	152784511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152784511C>T	uc021zhb.1	-	16	2297	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	SYNE1_uc003qot.4_Missense_Mutation_p.E699K|SYNE1_uc003qou.4_Missense_Mutation_p.E692K|SYNE1_uc010kjb.1_Missense_Mutation_p.E675K|SYNE1_uc003qpa.1_Missense_Mutation_p.E692K|SYNE1_uc003qow.3_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.E208K|SYNE1_uc003qoz.2_Missense_Mutation_p.E124K|SYNE1_uc003qoy.2_Missense_Mutation_p.E259K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	692					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)		ATAAACAACTCCCTCCACCGC	0.413000										HNSCC(10;0.0054)				104			27		0	0	0.006320	0	0
NLRP13	126204	broad.mit.edu	37	19	56423350	56423350	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56423350C>T	uc010ygg.2	-	4	1858	c.1833G>A	c.(1831-1833)agG>agA	p.R611R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	611							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)		CCTCCATTACCCTGGGAGATA	0.398000														36			18		0	0	0.004990	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589969	64589969	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:64589969G>A	uc003dmg.3	-	23	3545	c.3513C>T	c.(3511-3513)gcC>gcT	p.A1171A	ADAMTS9_uc011bfo.2_Silent_p.A1143A|ADAMTS9_uc003dmh.1_Silent_p.A1000A|ADAMTS9_uc011bfp.1_Silent_p.A82A	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1171					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)		TCGTTTCCGGGGCAGCTGGGG	0.488000														250			100		0	0	0.014410	0	0
PTPRE	5791	broad.mit.edu	37	10	129868693	129868693	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:129868693C>T	uc009yat.3	+	14	1722	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	PTPRE_uc001lkb.3_Silent_p.I424I|PTPRE_uc009yau.2_Silent_p.I424I|PTPRE_uc001lkd.3_Silent_p.I366I|PTPRE_uc010quq.1_Silent_p.I325I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	424	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCGACAAGATCGGGCTGGAGG	0.567000														20			4		0	0	0.000602	0	0
LAMB3	3914	broad.mit.edu	37	1	209791870	209791870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:209791870C>T	uc001hhg.3	-	17	3226	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	LAMB3_uc009xco.3_Missense_Mutation_p.D946N|LAMB3_uc001hhh.3_Missense_Mutation_p.D946N	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	946	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACCAAGTCCACGTTGGGG	0.617000														84			48		0	0	0.014410	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366306	37366306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:37366306C>T	uc003cgv.3	+	13	3289	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*	GOLGA4_uc010hgr.2_Nonsense_Mutation_p.Q538*|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.Q999*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.Q858*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	977	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTACTGGATCAGGAAGCCAA	0.338000														78			38		0	0	0.008740	0	0
ARNT	405	broad.mit.edu	37	1	150801696	150801696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:150801696C>T	uc001evr.2	-	11	1241	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N	ARNT_uc001evs.2_Missense_Mutation_p.S332N|ARNT_uc009wmd.2_Missense_Mutation_p.S332N|ARNT_uc009wmb.2_Missense_Mutation_p.S333N|ARNT_uc009wmc.2_Missense_Mutation_p.S347N|ARNT_uc009wme.2_Missense_Mutation_p.S347N|ARNT_uc010pcl.2_Missense_Mutation_p.S331N	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	347					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTGGGAGAACTAGTTACCTG	0.383000			T	ETV6	AML									102			18		0	0	0.008871	0	0
ERBB4	2066	broad.mit.edu	37	2	212812239	212812239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:212812239C>T	uc002veg.1	-	2	435	c.337G>A	c.(337-339)Gat>Aat	p.D113N	ERBB4_uc002veh.1_Missense_Mutation_p.D113N|ERBB4_uc010zji.1_Missense_Mutation_p.D113N|ERBB4_uc010zjj.1_Missense_Mutation_p.D113N|ERBB4_uc010fut.1_Missense_Mutation_p.D113N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	113					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATATCGATCCTCATAAAGT	0.383000										TSP Lung(8;0.080)				14			39		0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9046526	9046526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9046526G>A	uc002mkp.3	-	4	35309	c.35105C>T	c.(35104-35106)tCc>tTc	p.S11702F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11704	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						GGTTGTTCTGGAAACAGGTGT	0.507000														83			48		0	0	0.014410	0	0
TDRD6	221400	broad.mit.edu	37	6	46657732	46657732	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:46657732A>T	uc003oyj.3	+	0	2121	c.1867A>T	c.(1867-1869)Act>Tct	p.T623S	TDRD6_uc010jze.3_Missense_Mutation_p.T623S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	623					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTTAAAAAGACTGTGCTCCA	0.398000														14			9		0	0	0.004482	0	0
USP49	25862	broad.mit.edu	37	6	41774178	41774178	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:41774178T>C	uc003ori.3	-	3	766	c.544A>G	c.(544-546)Aag>Gag	p.K182E		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	182					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTCCTCCTTCTTGCGCTCC	0.726000														22			20		0	0	0.008871	0	0
F11	2160	broad.mit.edu	37	4	187197030	187197030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:187197030C>T	uc003iza.1	+	5	908	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	192	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TCACTGAAATCCTGTGCACTT	0.383000														7			3		0	0	0.009096	0	0
GPR50	9248	broad.mit.edu	37	X	150349895	150349895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:150349895G>A	uc010ntg.2	+	1	1978	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	614					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.E614*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCCTGATGAAATGGCTGT	0.453000														14			42		0	0	0.009718	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326699	61326699	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:61326699G>A	uc002lji.3	-	3	429	c.285C>T	c.(283-285)tcC>tcT	p.S95S	SERPINB3_uc002ljg.3_Silent_p.S95S|SERPINB3_uc010dqa.3_Silent_p.S95S|SERPINB3_uc010dqb.3_Silent_p.S95S	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	95					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGCATCAGTGGATTTGTTGA	0.383000														106			42		0	0	0.008740	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121894	12121894	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:12121894C>T	uc003nac.3	+	3	2045	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S	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.	622					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)				ATGAGAATTCCCACCAGAAAG	0.522000														84			49		0	0	0.014410	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65494184	65494184	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:65494184C>T	uc001xia.3	+	4	553	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	CHURC1-FNTB_uc010tsl.2_Silent_p.L191L|CHURC1-FNTB_uc010tsm.2_Silent_p.L84L|MAX_uc001xic.1_Intron|CHURC1-FNTB_uc001xid.3_5'UTR|CHURC1-FNTB_uc010tso.2_Silent_p.L45L	NM_002028	NP_002019	B4DL54	B4DL54_HUMAN	Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.	164					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										GTGTCAGTTCCTGGAGCTGTG	0.493000														129			64		0	0	0.014410	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163545	32163545	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:32163545C>T	uc002ecx.3	-	1		c.226G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		CCAAACTCATCGTGCACAATT	0.582000														71			9		0	0	0.008291	0	0
PCF11	51585	broad.mit.edu	37	11	82877030	82877030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:82877030C>T	uc001ozx.4	+	4	1436	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PCF11_uc010rsu.1_Missense_Mutation_p.S364L	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	364	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATTCTAAATCGAAATCGAAA	0.313000														25			15		0	0	0.004007	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131798931	131798931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:131798931G>A	uc002tsa.1	+	8	1752	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.M411I|ARHGEF4_uc010fmx.1_Missense_Mutation_p.M351I|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	411	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCAGAAGATGATTGACATCT	0.587000														22			38		0	0	0.004878	0	0
USH2A	7399	broad.mit.edu	37	1	215824000	215824000	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:215824000C>T	uc001hku.1	-	64	14664	c.14277G>A	c.(14275-14277)ggG>ggA	p.G4759G		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4759	Fibronectin type-III 33.				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)		CGTTGGGCTTCCCAGGGGCAC	0.587000										HNSCC(13;0.011)				160			39		0	0	0.011902	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130769216	130769216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:130769216G>A	uc003kvn.2	-	24	4087	c.3881C>T	c.(3880-3882)tCc>tTc	p.S1294F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1344F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1307F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1302F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1302F|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S217F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1294	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGCCTGAGAGGAACACCGTTC	0.517000														22			19		0	0	0.008871	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397289	17397289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:17397289C>T	uc010xpn.1	+	7	1835	c.1721C>T	c.(1720-1722)aCc>aTc	p.T574I	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.H592H|ANKLE1_uc010eao.1_Silent_p.H588H|ANKLE1_uc002nfy.2_Silent_p.H555H|ANKLE1_uc002nfz.2_Silent_p.H298H			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	554						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCTGCTGCACCGTGCCCTCC	0.662000														16			14		0	0	0.001855	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	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														87			18		0	0	0.008871	0	0
FSTL4	23105	broad.mit.edu	37	5	132552948	132552948	+	Silent	SNP	G	A	A	rs111394662		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:132552948G>A	uc003kyn.1	-	12	1799	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	FSTL4_uc003kym.1_Silent_p.V176V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	527						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)			CTTGGATGTCGACCACAAGGA	0.502000														27			33		0	0	0.004878	0	0
CR1	1378	broad.mit.edu	37	1	207782974	207782974	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207782974A>C	uc001hfy.3	+	28	5026	c.4886A>C	c.(4885-4887)cAc>cCc	p.H1629P	CR1_uc009xcl.1_Missense_Mutation_p.H1179P|CR1_uc001hfx.3_Missense_Mutation_p.H2079P|CR1_uc021pij.1_Missense_Mutation_p.H1629P	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1629	Sushi 25.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTAGGGTCCCACACTGTGCAG	0.522000														26			4		0	0	0.000602	0	0
SDK1	221935	broad.mit.edu	37	7	4014040	4014040	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:4014040G>A	uc003smx.3	+	12	1996	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	619	Ig-like C2-type 6.				cell adhesion	integral to membrane				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)		TGACTCCATCGAGCACGTCTA	0.542000														35			60		0	0	0.014410	0	0
MAST1	22983	broad.mit.edu	37	19	12975890	12975890	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:12975890G>A	uc002mvm.3	+	13	1664	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	512	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTCACATCAAGCTCACAGATT	0.572000														85			21		0	0	0.012319	0	0
PDE6G	5148	broad.mit.edu	37	17	79620265	79620265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:79620265C>T	uc002kay.3	-	1	215	c.71G>A	c.(70-72)aGg>aAg	p.R24K	PDE6G_uc002kaz.3_Intron	NM_002602	NP_002593	P18545	CNRG_HUMAN	Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA.	24	Arg/Lys-rich (basic).				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGCCCTTTCCTGGGGGTGAC	0.627000														91			45		0	0	0.014410	0	0
TGM7	116179	broad.mit.edu	37	15	43571474	43571474	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:43571474C>T	uc001zrf.1	-	11	1684	c.1679_splice	c.e11-1	p.E560_splice		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	560					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCCACTGTGTCTCTAAGCACA	0.498000														18			9		0	0	0.004482	0	0
RANBP17	64901	broad.mit.edu	37	5	170610355	170610355	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:170610355T>G	uc003mba.3	+	17	2101	c.1959T>G	c.(1957-1959)agT>agG	p.S653R	RANBP17_uc003mbb.3_5'UTR|RANBP17_uc003mbd.3_Missense_Mutation_p.S16R|RANBP17_uc010jjs.3_Non-coding_Transcript|RANBP17_uc003mbc.3_Missense_Mutation_p.S16R	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	653					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)			TTGGCATCAGTGACAATCATA	0.388000			T	TRD@	ALL									40			21		0	0	0.003330	0	0
DOCK8	81704	broad.mit.edu	37	9	446428	446428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:446428G>A	uc003zgf.2	+	43	5751	c.5639G>A	c.(5638-5640)aGg>aAg	p.R1880K	DOCK8_uc022bcu.1_Missense_Mutation_p.R1812K|DOCK8_uc010mgv.3_Missense_Mutation_p.R1780K|DOCK8_uc010mgu.3_Missense_Mutation_p.R1182K|DOCK8_uc003zgk.2_Missense_Mutation_p.R1338K	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1880					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGAAAGACAGGGTCACATAC	0.517000														102			48		0	0	0.014410	0	0
RRAS	6237	broad.mit.edu	37	19	50138891	50138891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:50138891G>A	uc002pop.1	-	5	644	c.599C>T	c.(598-600)cCg>cTg	p.P200L		NM_006270	NP_006261	P10301	RRAS_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog (RRAS), mRNA.	200					Ras protein signal transduction|axon guidance|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	p.P199Q(1)		endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGGAGGGCTCGGTGGGAGCTC	0.617000														100			40		0	0	0.006999	0	0
MYO15A	51168	broad.mit.edu	37	17	18023148	18023148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:18023148C>T	uc021trm.1	+	0	1253	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	MYO15A_uc021trl.1_Missense_Mutation_p.P345L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	345	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			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)					TACCTGGATCCCTATGCGCCG	0.592000														28			25		0	0	0.006320	0	0
CRP	1401	broad.mit.edu	37	1	159683466	159683467	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159683466_159683467CC>TT	uc001ftw.3	-	1	627_628	c.523_524GG>AA	c.(523-525)gga>AAa	p.G175K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	175	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			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTTCACATTTCCAATGTCTCCC	0.535000														274			78		0	0	0.004672	0	0
LARP4	113251	broad.mit.edu	37	12	50860828	50860828	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:50860828T>C	uc001rwp.2	+	12	1672	c.1470T>C	c.(1468-1470)agT>agC	p.S490S	LARP4_uc001rwq.2_Silent_p.S419S|LARP4_uc001rwt.2_Silent_p.S348S|LARP4_uc001rws.2_Silent_p.S489S|LARP4_uc001rwr.2_Silent_p.S419S|LARP4_uc021qxv.1_Silent_p.S420S|LARP4_uc009zlr.1_Silent_p.S309S	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	490							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TACCTGGAAGTTCATCAAGAA	0.393000														44			21		0	0	0.014323	0	0
TRPM6	140803	broad.mit.edu	37	9	77397640	77397640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:77397640G>A	uc004ajl.1	-	21	3287	c.3049C>T	c.(3049-3051)Cca>Tca	p.P1017S	TRPM6_uc004ajk.1_Missense_Mutation_p.P1012S|TRPM6_uc022bib.1_Missense_Mutation_p.P1012S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1017					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCCAGTATGGCTCAAATACA	0.458000														34			27		0	0	0.005443	0	0
H1FNT	341567	broad.mit.edu	37	12	48723794	48723794	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:48723794G>A	uc001rrm.3	+	0	1032	c.720G>A	c.(718-720)agG>agA	p.R240R		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	240					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCAAGCCCAGGGAAGAGAAGC	0.642000														7			7		0	0	0.006214	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200472	92200473	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:92200472_92200473GG>AA	uc001doh.3	-	4	943_944	c.428_429CC>TT	c.(427-429)tcc>tTT	p.S143F	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.S101F|TGFBR3_uc001doi.3_Missense_Mutation_p.S143F|TGFBR3_uc001doj.3_Missense_Mutation_p.S143F	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	143					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)		CTGCTGTCAAGGAGAAGTTTGC	0.441000														75			29		0	0	0.004672	0	0
PEAR1	375033	broad.mit.edu	37	1	156874579	156874579	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:156874579C>T	uc001fqj.1	+	2	257	c.141C>T	c.(139-141)ttC>ttT	p.F47F	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	47	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGCCCCTTCAGCCTGCTCC	0.677000														100			21		0	0	0.002780	0	0
PDE3A	5139	broad.mit.edu	37	12	20766429	20766429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:20766429G>A	uc001reh.2	+	2	1104	c.1064G>A	c.(1063-1065)gGc>gAc	p.G355D	PDE3A_uc021qwa.1_Missense_Mutation_p.G33D	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAGGCCCACGGCCTCATTACC	0.542000														59			32		0	0	0.012213	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664219	169664219	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:169664219C>T	uc011bpp.2	-	1		c.3584G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		GCCACAAAGGCCTTGAAGCAC	0.522000														13			16		0	0	0.006122	0	0
FBLN1	2192	broad.mit.edu	37	22	45937138	45937138	+	Missense_Mutation	SNP	C	T	T	rs113064196		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:45937138C>T	uc010gzz.3	+	9	1213	c.1066C>T	c.(1066-1068)Ccg>Tcg	p.P356S	FBLN1_uc003bgg.1_Missense_Mutation_p.P318S|FBLN1_uc003bgh.3_Missense_Mutation_p.P318S|FBLN1_uc003bgi.1_Missense_Mutation_p.P318S|FBLN1_uc003bgj.1_Missense_Mutation_p.P318S	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	318	EGF-like 5; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TATCAGTGCCCCGTGCCCTAT	0.532000														48			26		0	0	0.004656	0	0
DSC1	1823	broad.mit.edu	37	18	28711664	28711664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28711664C>T	uc002kwn.3	-	14	2642	c.2380G>A	c.(2380-2382)Gga>Aga	p.G794R	DSC1_uc002kwm.3_Missense_Mutation_p.G794R|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	794					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)			TGTCCACCTCCTTTGTTGGAA	0.512000														109			61		0	0	0.014410	0	0
KCNC4	3749	broad.mit.edu	37	1	110766203	110766203	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110766203C>T	uc009wfr.3	+	1	2082	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	KCNC4_uc001dzf.3_Silent_p.V432V|KCNC4_uc001dzh.3_Silent_p.V432V|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.V432V	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	432					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGCTGTGGTCACCATGACGA	0.607000														96			44		0	0	0.013114	0	0
CCNB3	85417	broad.mit.edu	37	X	50052110	50052110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:50052110C>T	uc004dox.4	+	5	1239	c.941C>T	c.(940-942)tCc>tTc	p.S314F	CCNB3_uc004doy.3_Missense_Mutation_p.S314F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	314					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGCAATGTCCTCCATTAAG	0.413000														27			51		0	0	0.014410	0	0
NOMO1	23420	broad.mit.edu	37	16	14973896	14973896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:14973896C>T	uc002dcv.3	+	23	2848	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	928						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTACTTCAAACCCATGATGAA	0.517000														128			41		0	0	0.014410	0	0
ADAM7	8756	broad.mit.edu	37	8	24346820	24346820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24346820G>A	uc003xeb.3	+	11	1353	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ADAM7_uc003xec.3_Missense_Mutation_p.E186K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	414	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGATGAGGGTGAAGAGTGTGA	0.393000														31			9		0	0	0.006214	0	0
CLU	1191	broad.mit.edu	37	8	27468013	27468013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:27468013C>T	uc003xfy.2	-	1	256	c.109G>A	c.(109-111)Gtc>Atc	p.V37I	CLU_uc003xfw.2_Missense_Mutation_p.V26I|CLU_uc003xfx.2_Missense_Mutation_p.V26I|CLU_uc003xfz.2_Missense_Mutation_p.V26I	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	26					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTGTCTGAGACCGTCTGGTCC	0.567000														54			29		0	0	0.009535	0	0
ARL2	402	broad.mit.edu	37	11	64785862	64785862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:64785862C>T	uc001och.4	+	1	187	c.92C>T	c.(91-93)aCc>aTc	p.T31I	ARL2_uc010rnu.2_Missense_Mutation_p.T31I|ARL2_uc021qlc.1_Missense_Mutation_p.T31I|SNX15_uc001oci.4_5'UTR	NM_001667	NP_001658	P36404	ARL2_HUMAN	Homo sapiens ADP-ribosylation factor-like 2 (ARL2), transcript variant 1, mRNA.	31					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAAAGACAACCATCCTGAAG	0.582000														9			4		0	0	0.009096	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061552	13061552	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:13061552C>T	uc001rba.3	+	1	1019	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	123						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCAAGCTCGTCCGGGGGAGGA	0.557000														146			68		0	0	0.014410	0	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720772	31720772	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:31720772G>A	uc002yny.1	-	0	153	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_181624	NP_853655	A1A580	KR231_HUMAN	Homo sapiens keratin associated protein 23-1 (KRTAP23-1), mRNA.	51						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						GCAGAGAGAGGAACCCAGCTG	0.607000														32			11		0	0	0.008291	0	0
GLYAT	10249	broad.mit.edu	37	11	58477521	58477521	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:58477521G>A	uc001nnb.3	-	5	764	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	203					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AGGTGGGAAAGGTCTGAATGC	0.522000														55			19		0	0	0.014323	0	0
BPIFC	254240	broad.mit.edu	37	22	32853264	32853264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:32853264C>T	uc003amn.2	-	0	110	c.110G>A	c.(109-111)aGg>aAg	p.R37K	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_Intron|BPIFC_uc003amo.4_Missense_Mutation_p.R37K	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	37						extracellular region	lipopolysaccharide binding|phospholipid binding										GTCAAGTGCCCTCTGAGTAAT	0.498000														38			8		0	0	0.004482	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475885	140475885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:140475885C>T	uc003lil.3	+	0	1649	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	PCDHB2_uc003lim.1_Missense_Mutation_p.S165F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	504	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S504F(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.687000														42			43		0	0	0.014410	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813680	100813680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:100813680G>A	uc010svi.2	+	11	1826	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	SLC17A8_uc009ztx.3_Missense_Mutation_p.E455K	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.	505					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						TGCTTCTGGGGAGAAACAGGA	0.473000														68			33		0	0	0.003271	0	0
MAPT	4137	broad.mit.edu	37	17	44060587	44060587	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:44060587G>A	uc002ijr.4	+	5	739	c.417G>A	c.(415-417)gaG>gaA	p.E139E	MAPT_uc010dau.3_Silent_p.E139E|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_5'UTR	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	139					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCCTCCGAGAGCCAGGCCCCC	0.667000														7			6		0	0	0.003080	0	0
BMS1	9790	broad.mit.edu	37	10	43318679	43318679	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:43318679C>T	uc001jaj.3	+	19	3604	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1082					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGGAGCTTTCAGGGCCAGCT	0.512000														22			25		0	0	0.003330	0	0
OR4K2	390431	broad.mit.edu	37	14	20344634	20344634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:20344634G>A	uc001vwh.1	+	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCAATCATTGATATGTCTCT	0.423000														203			47		0	0	0.014410	0	0
PADI3	51702	broad.mit.edu	37	1	17588688	17588688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:17588688C>T	uc001bai.3	+	2	374	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	112					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGTGCTCTACCTCACCTGTGT	0.498000														21			6		0	0	0.001984	0	0
ROBO1	6091	broad.mit.edu	37	3	78710396	78710396	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:78710396G>A	uc003dqe.2	-	15	2312	c.2104C>T	c.(2104-2106)Cag>Tag	p.Q702*	ROBO1_uc003dqc.2_Nonsense_Mutation_p.Q666*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.Q666*|ROBO1_uc003dqb.2_Nonsense_Mutation_p.Q663*|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Nonsense_Mutation_p.Q274*|ROBO1_uc003dqf.1_Nonsense_Mutation_p.Q381*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	702	Fibronectin type-III 2.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTATATACTGAGACTGTTGA	0.323000														12			7		0	0	0.001984	0	0
PLD2	5338	broad.mit.edu	37	17	4726006	4726006	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:4726006C>T	uc002fzc.3	+	24	2775	c.2649C>T	c.(2647-2649)ccC>ccT	p.P883P	PLD2_uc002fzd.3_Silent_p.P872P	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	883					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)	CCGTGGAGCCCTTGGCCACGG	0.647000														56			40		0	0	0.011902	0	0
KCNT1	57582	broad.mit.edu	37	9	138651645	138651645	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:138651645G>A	uc011mdq.2	+	10	1049	c.975G>A	c.(973-975)tgG>tgA	p.W325*	KCNT1_uc011mdr.2_Nonsense_Mutation_p.W152*|KCNT1_uc010nbf.3_Nonsense_Mutation_p.W280*|KCNT1_uc004cgo.1_Nonsense_Mutation_p.W74*	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	325						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGATCTGGCCATCGCAGC	0.637000														17			18		0	0	0.006122	0	0
ISL2	64843	broad.mit.edu	37	15	76630250	76630250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:76630250G>A	uc002bbw.1	+	1	268	c.190G>A	c.(190-192)Gag>Aag	p.E64K	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	64	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GTACCTGGACGAGACGTGCAC	0.667000														35			14		0	0	0.004990	0	0
ARHGAP5	394	broad.mit.edu	37	14	32615491	32615492	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:32615491_32615492CC>TT	uc001wrl.3	+	3	4127_4128	c.3888_3889CC>TT	c.(3886-3891)taccgt>taTTgt	p.R1297C	ARHGAP5_uc001wrm.3_Missense_Mutation_p.R1296C|ARHGAP5_uc001wrn.3_Missense_Mutation_p.R1297C|ARHGAP5_uc001wro.3_Missense_Mutation_p.R36C|ARHGAP5_uc001wrp.3_Missense_Mutation_p.R32C	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	1297	Rho-GAP.				Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R1297C(2)		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)		AAGGACTCTACCGTGTCAGCGG	0.351000														30			13		0	0	0.004672	0	0
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:100912815C>T	uc001pgh.2	-	6	3250	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_uc001pgg.2_Missense_Mutation_p.R217Q|PGR_uc001pgi.2_Missense_Mutation_p.R734Q|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	836	Steroid-binding.				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	p.R836Q(2)|p.R836*(1)		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)	GGTTTGACTTCGTAGCCCTTC	0.383000														29			18		0	0	0.010504	0	0
BNC1	646	broad.mit.edu	37	15	83926632	83926632	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:83926632G>A	uc002bjt.1	-	4	2635	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	BNC1_uc010uos.1_Silent_p.P837P	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	849					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTCGCTCAAGGGGCCAGAGT	0.532000														56			27		0	0	0.005443	0	0
INTU	27152	broad.mit.edu	37	4	128627833	128627833	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:128627833C>T	uc003ifk.2	+	11	2083	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	660										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGACTGGTTCCTTACTGGAT	0.453000														86			38		0	0	0.005524	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283465	33283465	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:33283465G>C	uc003oeb.3	-	1	1381	c.1229C>G	c.(1228-1230)tCc>tGc	p.S410C	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.S410C|ZBTB22_uc021ywm.1_Missense_Mutation_p.S410C	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAGGGTGGGAGGGGGCATA	0.597000														156			49		0	0	0.014410	0	0
SIAH3	283514	broad.mit.edu	37	13	46357845	46357845	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:46357845G>A	uc001vap.3	-	1	565	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	161					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GGCCAAGGCAGGAGTGCATGA	0.597000														13			11		0	0	0.008291	0	0
POU6F2	11281	broad.mit.edu	37	7	39379586	39379586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:39379586C>T	uc003thb.2	+	5	1000	c.857C>T	c.(856-858)tCa>tTa	p.S286L	POU6F2_uc022acb.1_Missense_Mutation_p.S286L|POU6F2_uc010kxo.3_Missense_Mutation_p.S278L	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	286	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P285P(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCTGCCTTCACCGCTCACG	0.617000														46			63		0	0	0.014410	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955768	51955768	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51955768C>T	uc002pwt.3	-	6	1432	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	SIGLEC8_uc010yda.2_Silent_p.V346V|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.V362V	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	455					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTGAGGCTTCACTTTATGGA	0.562000														51			27		0	0	0.007291	0	0
DIAPH3	81624	broad.mit.edu	37	13	60453532	60453532	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:60453532A>C	uc001vht.3	-	20	2657	c.2438T>G	c.(2437-2439)gTg>gGg	p.V813G	DIAPH3_uc001vhu.3_Missense_Mutation_p.V550G|DIAPH3_uc001vhv.3_Missense_Mutation_p.V391G	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	813	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GATGTTGTTCACCTGCTCTTC	0.423000														19			16		0	0	0.003163	0	0
DSC2	1824	broad.mit.edu	37	18	28662218	28662218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28662218G>A	uc002kwl.4	-	8	1703	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F	DSC2_uc002kwk.4_Missense_Mutation_p.L417F	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	417	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTACACAAAGAACTCCTTCA	0.289000														71			25		0	0	0.003954	0	0
UBR5	51366	broad.mit.edu	37	8	103340049	103340049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:103340049G>A	uc003ykr.2	-	11	1857	c.1402C>T	c.(1402-1404)Ctt>Ttt	p.L468F	UBR5_uc003yks.2_Missense_Mutation_p.L468F	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	468					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTCCTTGAAGTTCAGAGTAA	0.408000														49			27		0	0	0.008361	0	0
DSC2	1824	broad.mit.edu	37	18	28669455	28669455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:28669455C>T	uc002kwl.4	-	4	1031	c.577G>A	c.(577-579)Gga>Aga	p.G193R	DSC2_uc002kwk.4_Missense_Mutation_p.G193R	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	193	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TACAAGTTTCCAGTGTCTCTC	0.398000														46			20		0	0	0.005443	0	0
RBM15B	29890	broad.mit.edu	37	3	51430285	51430285	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:51430285C>T	uc003dbd.3	+	0	1587	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	485	RRM 3.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGCAGGCTCCGCGTGGATT	0.572000														58			20		0	0	0.010504	0	0
CCDC68	80323	broad.mit.edu	37	18	52596091	52596091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:52596091C>T	uc002lfs.3	-	7	795	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CCDC68_uc002lft.3_Missense_Mutation_p.R208K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	208										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGACAGTTTTCTTTCTAGTAG	0.363000														24			6		0	0	0.001984	0	0
HERC2	8924	broad.mit.edu	37	15	28502311	28502311	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:28502311G>A	uc001zbj.3	-	16	2519	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	HERC2_uc001zbl.1_Silent_p.L500L	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	805					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCGAAGCAGGAGATCCAGC	0.557000														35			30		0	0	0.007291	0	0
TRHDE	29953	broad.mit.edu	37	12	73012732	73012732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:73012732G>A	uc001sxa.3	+	12	2278	c.2248G>A	c.(2248-2250)Gat>Aat	p.D750N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	750					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGAGGAGAAGGATTTTCTTCC	0.378000														53			20		0	0	0.014323	0	0
CNGA1	1259	broad.mit.edu	37	4	47953412	47953412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:47953412G>A	uc003gxu.3	-	3	542	c.401C>T	c.(400-402)tCc>tTc	p.S134F	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.S65F|CNGA1_uc003gxv.1_Missense_Mutation_p.S65F	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	65					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATAACTAAAGGAACCCCTTGC	0.443000														46			5		0	0	0.001168	0	0
OR10X1	128367	broad.mit.edu	37	1	158549127	158549127	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158549127T>C	uc010pin.2	-	0	563	c.563A>G	c.(562-564)aAc>aGc	p.N188S		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTGACAAGGTTGGGTCTGCA	0.433000														56			31		0	0	0.012213	0	0
ADH7	131	broad.mit.edu	37	4	100348958	100348958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:100348958C>T	uc003huv.2	-	4	813	c.572G>A	c.(571-573)gGa>gAa	p.G191E	ADH7_uc021xqj.1_Missense_Mutation_p.G199E	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	191					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)	AGCGCCATATCCAGTGGAAAA	0.408000														26			16		0	0	0.004007	0	0
STOML3	161003	broad.mit.edu	37	13	39550716	39550716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:39550716G>A	uc001uwx.3	-	2	328	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	STOML3_uc010tez.2_Missense_Mutation_p.R55C	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	64						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CGTCCCAGACGGAATACAACA	0.473000														21			17		0	0	0.008871	0	0
OPN4	94233	broad.mit.edu	37	10	88419807	88419807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:88419807C>T	uc010qmk.1	+	6	1216	c.989C>T	c.(988-990)gCc>gTc	p.A330V	OPN4_uc001kdp.3_Missense_Mutation_p.A330V|OPN4_uc001kdq.3_Missense_Mutation_p.A319V|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	319					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGTGGCCTTTGCTGGG	0.622000														28			26		0	0	0.013726	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236759	207236759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:207236759C>T	uc001hfg.3	+	5	552	c.443C>T	c.(442-444)tCc>tTc	p.S148F	PFKFB2_uc010psc.2_Missense_Mutation_p.S50F|PFKFB2_uc001hfh.3_Missense_Mutation_p.S148F|PFKFB2_uc009xcc.3_Missense_Mutation_p.S106F|PFKFB2_uc010psd.2_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	148	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAACAGAATTCCTTCAAGGTA	0.483000														29			12		0	0	0.001855	0	0
FLT3LG	2323	broad.mit.edu	37	19	49979049	49979049	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:49979049C>T	uc002pnu.3	+	2	245	c.135C>T	c.(133-135)atC>atT	p.I45I	FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_Silent_p.I45I|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_Silent_p.I45I|FLT3LG_uc010yav.2_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	45					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGTCAAAATCCGTGAGCTGG	0.587000														27			26		0	0	0.003954	0	0
REXO1L1	254958	broad.mit.edu	37	8	86574497	86574497	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:86574497G>A	uc022axf.1	-	0	1230	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	410	GOR1-125 epitope.					cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						AGACCCTACAGGAGGAGTCGC	0.672000														19			7		0	0	0.003080	0	0
CLVS2	134829	broad.mit.edu	37	6	123376999	123376999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:123376999C>T	uc003pzi.1	+	4	1593	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	242	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTAATTCATCCTGAGATCCT	0.443000														67			25		0	0	0.008361	0	0
PHF1	5252	broad.mit.edu	37	6	33383373	33383373	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:33383373C>T	uc003oeh.3	+	13	1577	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Missense_Mutation_p.P412L|PHF1_uc010jux.3_Silent_p.P247P	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	447					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P447P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCAGCAGCCCCATCCGGATGT	0.587000														116			39		0	0	0.009718	0	0
KIAA0319	9856	broad.mit.edu	37	6	24554805	24554805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:24554805C>T	uc011djo.2	-	18	3412	c.2912G>A	c.(2911-2913)gGa>gAa	p.G971E	KIAA0319_uc011djp.2_Missense_Mutation_p.G926E|KIAA0319_uc003neh.1_Missense_Mutation_p.G971E|KIAA0319_uc011djq.1_Missense_Mutation_p.G962E|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Missense_Mutation_p.G382E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	971					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTGAAACCTCCTGTTAGCAC	0.413000														260			75		0	0	0.014410	0	0
IL17RB	55540	broad.mit.edu	37	3	53890992	53890992	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:53890992C>T	uc003dha.3	+	6	690	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	217					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				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)		GCACTATCATCGGGTTTTCTC	0.463000														115			57		0	0	0.014410	0	0
GNA12	2768	broad.mit.edu	37	7	2771243	2771243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:2771243G>A	uc003smu.3	-	3	882	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	GNA12_uc011jwb.2_Nonsense_Mutation_p.Q223*|GNA12_uc003smt.3_Nonsense_Mutation_p.Q181*	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	240					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCGAAGCACTGGAACCACTTC	0.577000														90			113		0	0	0.014410	0	0
CHRD	8646	broad.mit.edu	37	3	184102390	184102390	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:184102390C>T	uc003fov.3	+	12	1752	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CHRD_uc003fow.3_Silent_p.F132F|CHRD_uc003fox.3_Silent_p.F502F|CHRD_uc003foy.3_Silent_p.F132F|CHRD_uc010hyc.3_Silent_p.F92F|CHRD_uc011brr.2_Silent_p.F132F	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	502	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGAGCTCTTCCTGAACGTGG	0.647000														49			60		0	0	0.014410	0	0
RDH10	157506	broad.mit.edu	37	8	74209456	74209456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:74209456C>T	uc003xzi.3	+	1	1005	c.317C>T	c.(316-318)cCc>cTc	p.P106L	RDH10_uc003xzj.3_5'UTR	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	106					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTCTGCCCCACTGTAAC	0.507000														22			25		0	0	0.004656	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738691	102738691	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:102738691G>A	uc001krw.2	+	6	1113	c.729G>A	c.(727-729)acG>acA	p.T243T	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Silent_p.T243T|SEMA4G_uc001krx.3_Silent_p.T243T|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	243	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACTTCTTCACGGAGCGTGCCA	0.607000														12			17		0	0	0.008871	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704261	117704261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:117704261C>T	uc001lcg.3	+	28	4497	c.4111C>T	c.(4111-4113)Ctt>Ttt	p.L1371F	ATRNL1_uc010qsm.2_Missense_Mutation_p.L500F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1371						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCGAAAACACCTTTCAACACG	0.428000														30			37		0	0	0.008740	0	0
CPD	1362	broad.mit.edu	37	17	28770828	28770828	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:28770828G>A	uc002hfb.2	+	10	2439	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	CPD_uc010wbo.2_Silent_p.Q547Q|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	794	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGGTTCATCAGGGCGTCAGAG	0.378000														81			37		0	0	0.006230	0	0
OR8A1	390275	broad.mit.edu	37	11	124440898	124440898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:124440898G>A	uc010san.2	+	0	934	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAGGAACAAGGAAGTAAAGGC	0.433000														28			7		0	0	0.003080	0	0
PKHD1	5314	broad.mit.edu	37	6	51918899	51918899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:51918899C>T	uc003pah.1	-	19	2177	c.1901G>A	c.(1900-1902)gGc>gAc	p.G634D	PKHD1_uc003pai.3_Missense_Mutation_p.G634D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	634					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTTTGAAAGCCGATTGTGAA	0.473000														35			22		0	0	0.002780	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561576	11561576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11561576C>T	uc001ash.4	+	1	665	c.527C>T	c.(526-528)cCc>cTc	p.P176L	PTCHD2_uc001asi.1_Missense_Mutation_p.P176L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	176					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGCGTCATCCCCGCGGCCTCA	0.687000														19			8		0	0	0.006214	0	0
TMEM196	256130	broad.mit.edu	37	7	19765245	19765245	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:19765245G>A	uc011jyg.2	-	2	436	c.351C>T	c.(349-351)ggC>ggT	p.G117G	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	123						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						AGAGAGTGCAGCCCCCGATCC	0.517000														95			22		0	0	0.014323	0	0
MACF1	23499	broad.mit.edu	37	1	39797305	39797305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:39797305C>T	uc021olw.1	+	0	365	c.365C>T	c.(364-366)tCt>tTt	p.S122F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1687	Actin-binding.|CH 1.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCCTCATTTCTGCATGGCTT	0.418000														55			31		0	0	0.007291	0	0
DCAF11	80344	broad.mit.edu	37	14	24588358	24588358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:24588358G>A	uc001wlv.3	+	8	1064	c.784G>A	c.(784-786)Gat>Aat	p.D262N	DCAF11_uc001wlw.3_Missense_Mutation_p.D262N|DCAF11_uc001wlz.3_Missense_Mutation_p.D162N|DCAF11_uc001wly.3_Missense_Mutation_p.D218N|DCAF11_uc010tny.2_Missense_Mutation_p.D129N|DCAF11_uc001wmc.3_Missense_Mutation_p.D162N|DCAF11_uc001wmb.4_Missense_Mutation_p.D236N|DCAF11_uc001wma.4_Missense_Mutation_p.D262N	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	262						CUL4 RING ubiquitin ligase complex	protein binding										TTTTAGGCCAGATGAGCGTCG	0.468000														121			46		0	0	0.014410	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:123301320G>A	uc003ieo.3	+	2	328	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	32					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.K31K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000														49			26		0	0	0.005443	0	0
DHX8	1659	broad.mit.edu	37	17	41571178	41571178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:41571178C>T	uc002idu.1	+	7	1208	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	DHX8_uc010wif.1_Missense_Mutation_p.P288L|DHX8_uc010wig.2_Missense_Mutation_p.P379L	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	379						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)		GTCAGTGCTCCTGAAGTAGAG	0.517000														93			42		0	0	0.011902	0	0
SEPP1	6414	broad.mit.edu	37	5	42801131	42801131	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:42801131C>T	uc011cps.2	-	5	1025	c.927G>A	c.(925-927)aaG>aaA	p.K309K	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Silent_p.K279K|SEPP1_uc011cpu.2_Silent_p.K279K|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	279					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTATACATCTCTTTCGACAGA	0.423000														43			23		0	0	0.012319	0	0
NLRP12	91662	broad.mit.edu	37	19	54313050	54313050	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:54313050C>T	uc002qcj.4	-	2	2083	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.Q621Q|NLRP12_uc002qci.4_Silent_p.Q621Q|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.Q621Q	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	621					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACTCCTCCTCCTGGATCTCGT	0.557000														29			20		0	0	0.012319	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468560	44468560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:44468560G>A	uc001cll.3	-	5	1099	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	SLC6A9_uc009vxe.2_Missense_Mutation_p.L159F|SLC6A9_uc010okm.1_Missense_Mutation_p.L230F|SLC6A9_uc001clm.3_Missense_Mutation_p.L249F|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.L234F|SLC6A9_uc010oko.2_Missense_Mutation_p.L119F|SLC6A9_uc001cln.3_Missense_Mutation_p.L230F|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	303						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ATGAGGCAGAGGAAGACGACC	0.602000														110			50		0	0	0.014410	0	0
OR51I2	390064	broad.mit.edu	37	11	5474840	5474840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5474840G>A	uc010qzf.2	+	0	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTTGGGGGAAATACAGTG	0.572000														34			17		0	0	0.004990	0	0
PDZD2	23037	broad.mit.edu	37	5	32010454	32010454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:32010454C>T	uc003jhl.3	+	5	1661	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	PDZD2_uc003jhm.3_Missense_Mutation_p.L425F|PDZD2_uc011cnx.1_Missense_Mutation_p.L251F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	425					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						CGCAGAGGACCTCCTCAGGTT	0.512000														102			43		0	0	0.014410	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920542	51920542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:51920542G>A	uc002pwo.3	-	1	437	c.215C>T	c.(214-216)cCt>cTt	p.P72L	SIGLEC10_uc002pwp.3_Missense_Mutation_p.P72L|SIGLEC10_uc021uyl.1_Missense_Mutation_p.P72L|SIGLEC10_uc002pwq.3_Missense_Mutation_p.P72L|SIGLEC10_uc010ycz.2_Missense_Mutation_p.P72L|SIGLEC10_uc002pws.2_Missense_Mutation_p.P72L|SIGLEC10_uc002pwr.3_Missense_Mutation_p.P72L|SIGLEC10_uc010ycy.2_Missense_Mutation_p.P72L|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	72	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGTGGCCACAGGAGCACCCTT	0.592000														53			22		0	0	0.012319	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490332	141490332	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:141490332C>T	uc003vwr.1	+	0	316	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	57					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GCCGATTTCTCCTGCAGTGGC	0.483000														56			30		0	0	0.010818	0	0
PPP1R36	145376	broad.mit.edu	37	14	65031494	65031494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:65031494G>A	uc001xhl.1	+	3	304	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	70																	AGAAGTCAAGGAAAAAGGAAA	0.403000														138			88		0	0	0.014410	0	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932909	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:148932909C>T	uc010pbc.1	+	1		c.224C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GGCCAAGACTCCGTCCTGCAA	0.607000														185			8		0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152456295	152456295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152456295G>A	uc021zhb.1	-	139	25955	c.25732C>T	c.(25732-25734)Cct>Tct	p.P8578S	SYNE1_uc003qos.4_Missense_Mutation_p.P3102S|SYNE1_uc003qot.4_Missense_Mutation_p.P8530S|SYNE1_uc003qou.4_Missense_Mutation_p.P8578S|SYNE1_uc011eez.2_Missense_Mutation_p.P780S|SYNE1_uc003qoq.4_Missense_Mutation_p.P780S|SYNE1_uc003qor.4_Missense_Mutation_p.P1501S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8578					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)		GAATCAATAGGGACAATTTCA	0.393000										HNSCC(10;0.0054)				30			27		0	0	0.004656	0	0
ZNF454	285676	broad.mit.edu	37	5	178392301	178392301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:178392301C>T	uc003mjo.2	+	4	1197	c.896C>T	c.(895-897)cCt>cTt	p.P299L	ZNF454_uc010jkz.2_Missense_Mutation_p.P299L|ZNF454_uc021yjc.1_Missense_Mutation_p.P299L	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P299H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGAGAGAAACCTTTTAAATGT	0.383000														63			20		0	0	0.008871	0	0
PHF17	79960	broad.mit.edu	37	4	129764136	129764136	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:129764136C>T	uc011cgy.2	+	2	395	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PHF17_uc003igj.3_Silent_p.S27S|PHF17_uc003igk.3_Silent_p.S27S|PHF17_uc003igl.3_Silent_p.S27S|PHF17_uc003igm.3_Silent_p.S27S	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	27					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						CCCAGAATTCCCGATCCCAGC	0.448000														57			26		0	0	0.005443	0	0
OGFRL1	79627	broad.mit.edu	37	6	72003052	72003052	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:72003052G>A	uc003pfx.1	+	1	454	c.291G>A	c.(289-291)agG>agA	p.R97R		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	97						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATGCTGCCAGGGATTTGTACA	0.378000														60			24		0	0	0.003954	0	0
DYSF	8291	broad.mit.edu	37	2	71896816	71896816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:71896816G>A	uc010fen.3	+	50	5865	c.5724G>A	c.(5722-5724)tgG>tgA	p.W1908*	DYSF_uc010fei.3_Nonsense_Mutation_p.W1886*|DYSF_uc010feh.3_Nonsense_Mutation_p.W1876*|DYSF_uc002sig.4_Nonsense_Mutation_p.W1855*|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Nonsense_Mutation_p.W1900*|DYSF_uc010fee.3_Nonsense_Mutation_p.W1890*|DYSF_uc010fef.3_Nonsense_Mutation_p.W1907*|DYSF_uc002sie.3_Nonsense_Mutation_p.W1869*|DYSF_uc010feo.3_Nonsense_Mutation_p.W1901*|DYSF_uc010fej.3_Nonsense_Mutation_p.W1877*|DYSF_uc010fel.3_Nonsense_Mutation_p.W1856*|DYSF_uc010fem.3_Nonsense_Mutation_p.W1891*|DYSF_uc002sif.3_Nonsense_Mutation_p.W1870*|DYSF_uc010fek.3_Nonsense_Mutation_p.W1887*|DYSF_uc010yqy.2_Nonsense_Mutation_p.W750*|DYSF_uc010yqz.2_Nonsense_Mutation_p.W630*	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1869						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTTCAACTGGAGGTTCATTT	0.488000														32			59		0	0	0.014410	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278422	36278422	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:36278422C>T	uc002obs.2	+	20	2616	c.2472C>T	c.(2470-2472)ccC>ccT	p.P824P	ARHGAP33_uc002obt.2_Silent_p.P849P|ARHGAP33_uc002obv.1_Silent_p.P573P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	919					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R823Q(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCAGCGGCCCATGGGGACCT	0.687000														16			10		0	0	0.010729	0	0
TESPA1	9840	broad.mit.edu	37	12	55360174	55360174	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:55360174G>A	uc010spd.1	-	5	478	c.345C>T	c.(343-345)tcC>tcT	p.S115S	TESPA1_uc001sgl.3_5'UTR|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_5'UTR|TESPA1_uc001sgn.3_Silent_p.S115S	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	115																	ACACTTACCTGGAGAAGAGTT	0.428000														60			32		0	0	0.004878	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:10358358C>T	uc002gmn.3	-	20	2446	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E778K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGCATTTCCTCTAGAGTT	0.418000														40			24		0	0	0.006320	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105285	60105285	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:60105285C>T	uc001npd.3	+	1	233	c.219C>T	c.(217-219)gtC>gtT	p.V73V		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	73						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCCTGTCTGTCAACCCGGCTG	0.458000														83			32		0	0	0.010818	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655574	77655574	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr13:77655574G>A	uc021rks.1	-	64	11673	c.11406C>T	c.(11404-11406)tcC>tcT	p.S3802S	MYCBP2_uc010aev.3_Silent_p.S3168S|MYCBP2_uc001vke.3_Silent_p.S384S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3764	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGATCTCGGGAATTGTCCA	0.393000														45			46		0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21229895	21229895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:21229895C>T	uc002red.3	-	25	9973	c.9845G>A	c.(9844-9846)aGt>aAt	p.S3282N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3282					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)	GATGGAGAAACTAGGCATGCT	0.468000														190			411		0	0	0.014410	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394846	233394846	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:233394846C>T	uc001hvl.2	-	4	997	c.762G>A	c.(760-762)aaG>aaA	p.K254K	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	254						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCAACTTCTTCAAGGGTC	0.502000														117			24		0	0	0.003330	0	0
ART4	420	broad.mit.edu	37	12	14993629	14993629	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:14993629G>A	uc001rcl.1	-	1	969	c.603C>T	c.(601-603)acC>acT	p.T201T	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Silent_p.T201T	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	201					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAATCGAATGGTGGCCCCTG	0.498000														37			19		0	0	0.008871	0	0
NLRP3	114548	broad.mit.edu	37	1	247588113	247588113	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:247588113G>A	uc001icr.3	+	4	1506	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	NLRP3_uc001ics.3_Silent_p.G456G|NLRP3_uc001icu.3_Silent_p.G456G|NLRP3_uc001icw.3_Silent_p.G456G|NLRP3_uc001icv.3_Silent_p.G456G|NLRP3_uc010pyw.2_Silent_p.G454G|NLRP3_uc001ict.1_Silent_p.G454G	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	456	NACHT.				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)			CCCGGGGAGGGAGCCAGGAGC	0.592000														67			17		0	0	0.004990	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805686	50805686	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:50805686A>C	uc003pag.3	+	5	988	c.822_splice	c.e5-2	p.R274_splice		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	274					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTGCAATTTCAGAGCCAAATC	0.413000														89			52		0	0	0.014410	0	0
INSR	3643	broad.mit.edu	37	19	7184365	7184365	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:7184365G>A	uc002mgd.1	-	2	1045	c.936C>T	c.(934-936)atC>atT	p.I312I	INSR_uc002mge.1_Silent_p.I312I|INSR_uc002mgf.3_Silent_p.I312I	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	312	Cys-rich.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACACTCAGGGATGCACTTGT	0.567000														173			78		0	0	0.014410	0	0
ZC3H14	79882	broad.mit.edu	37	14	89042269	89042269	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:89042269A>G	uc001xww.3	+	7	1333	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ZC3H14_uc010twd.2_Missense_Mutation_p.T370A|ZC3H14_uc010twe.2_Missense_Mutation_p.T370A|ZC3H14_uc001xwx.3_Missense_Mutation_p.T370A|ZC3H14_uc010twf.2_Missense_Mutation_p.T215A|ZC3H14_uc001xwy.3_Missense_Mutation_p.T336A|ZC3H14_uc010twg.2_Missense_Mutation_p.T215A|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	370						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AACAAAAACAACTAACTACTC	0.318000														23			17		0	0	0.006122	0	0
OR4X2	119764	broad.mit.edu	37	11	48266730	48266730	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:48266730C>T	uc001ngs.1	+	0	75	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	25					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						TATTTCTGTTCTTGTACACAG	0.453000														83			51		0	0	0.014410	0	0
ALX3	257	broad.mit.edu	37	1	110604122	110604123	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:110604122_110604123CC>TT	uc001dzb.3	-	2	745_746	c.657_658GG>AA	c.(655-660)gagggg>gaAAgg	p.G220R		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTTCCGCCCCTCCTGGATCT	0.629000														75			23		0	0	0.004672	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255246	24255246	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:24255246G>A	uc003xdz.2	+	6	898	c.678G>A	c.(676-678)ctG>ctA	p.L226L	ADAMDEC1_uc010lub.2_Silent_p.L147L|ADAMDEC1_uc011lab.1_Silent_p.L147L	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	226	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)		ATTTGGTGCTGGATAATGCCT	0.353000														27			13		0	0	0.003163	0	0
SCN3A	6328	broad.mit.edu	37	2	165970408	165970408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:165970408C>T	uc002ucx.3	-	19	4079	c.3587G>A	c.(3586-3588)cGa>cAa	p.R1196Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R1147Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R1147Q|SCN3A_uc002uda.1_Missense_Mutation_p.R1016Q|SCN3A_uc002udb.1_Missense_Mutation_p.R1016Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1196						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCAGGTTTTTCGAAGATTCCA	0.343000														39			74		0	0	0.014410	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533196	47533196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:47533196C>T	uc001cqu.1	+	0	37	c.34C>T	c.(34-36)Cac>Tac	p.H12Y		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	12						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACTCATGGCTCACCCCTTCTT	0.547000														19			8		0	0	0.003080	0	0
SCAND3	114821	broad.mit.edu	37	6	28542663	28542663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	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														43			21		0	0	0.010504	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032718	46032718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:46032718C>T	uc002zfo.1	+	0	723	c.701C>T	c.(700-702)tCc>tTc	p.S234F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	234	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						cctgcctcctcctgccagccc	0.711000														22			11		0	0	0.008291	0	0
CD40	958	broad.mit.edu	37	20	44757560	44757560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:44757560C>T	uc002xrg.1	+	8	792	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	CD40_uc002xrh.1_3'UTR|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	239					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GATCAATTTTCCCGACGATCT	0.607000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			18		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9089865	9089865	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:9089865G>A	uc002mkp.3	-	0	2154	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	650	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						CTGGAGACACGGAGACTGGGA	0.552000														102			40		0	0	0.014410	0	0
ALPK2	115701	broad.mit.edu	37	18	56205126	56205126	+	Missense_Mutation	SNP	G	A	A	rs115584025	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:56205126G>A	uc002lhj.4	-	4	2507	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C	ALPK2_uc002lhk.1_Missense_Mutation_p.R96C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	765							ATP binding|protein serine/threonine kinase activity	p.R765S(1)|p.R131S(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						AAGTCAGCACGAGCATCCTTG	0.517000														94			41		0	0	0.006230	0	0
NDOR1	27158	broad.mit.edu	37	9	140108686	140108686	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:140108686C>T	uc004clx.3	+	5	654	c.543C>T	c.(541-543)ctC>ctT	p.L181L	NDOR1_uc004clw.3_Silent_p.L181L|NDOR1_uc011mes.2_Silent_p.L181L|NDOR1_uc004cly.3_Silent_p.L147L	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	181					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGCTGTTCCTCCAAGAGGCAC	0.682000														7			13		0	0	0.002450	0	0
NR1H3	10062	broad.mit.edu	37	11	47282910	47282910	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:47282910C>T	uc009ylm.3	+	4	868	c.618C>T	c.(616-618)ctC>ctT	p.L206L	NR1H3_uc010rhk.2_Silent_p.L212L|NR1H3_uc009yll.2_Silent_p.L212L|NR1H3_uc001nek.3_Silent_p.L161L|NR1H3_uc001nen.4_Silent_p.L206L|NR1H3_uc001nem.3_Silent_p.L206L	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	206					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGCCCCAGCTCAGCCCGGAAC	0.597000														17			18		0	0	0.008871	0	0
RNASE9	390443	broad.mit.edu	37	14	21024965	21024965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:21024965C>T	uc010ahp.3	-	4	534	c.279G>A	c.(277-279)atG>atA	p.M93I	RNASE9_uc010aho.3_Missense_Mutation_p.M88I|RNASE9_uc001vxq.4_Missense_Mutation_p.M93I|RNASE9_uc010ahq.3_Missense_Mutation_p.M93I|RNASE9_uc010ahr.3_Missense_Mutation_p.M93I|RNASE9_uc010ahs.3_Missense_Mutation_p.M88I|RNASE9_uc010aht.3_Missense_Mutation_p.M88I|RNASE9_uc010ahu.3_Missense_Mutation_p.M88I|RNASE9_uc021rnt.1_Missense_Mutation_p.M88I	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	88						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CATTTTTTCCCATGATTTCAT	0.403000														90			42		0	0	0.014410	0	0
OR2M3	127062	broad.mit.edu	37	1	248366969	248366969	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:248366969C>T	uc010pzg.2	+	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199H(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)			AGATTCTTTTCATCTGCTGTA	0.443000														300			70		0	0	0.014410	0	0
EHMT2	10919	broad.mit.edu	37	6	31855988	31855988	+	Silent	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:31855988A>T	uc003nxz.1	-	12	1585	c.1575T>A	c.(1573-1575)tcT>tcA	p.S525S	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.S316S|EHMT2_uc011don.1_Silent_p.S548S|EHMT2_uc003nya.1_Silent_p.S491S	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	525					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						CATTCAGCTGAGACACACAGG	0.627000														351			85		0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26294333	26294333	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr22:26294333G>A	uc003abz.1	+	28	4978	c.4728G>A	c.(4726-4728)agG>agA	p.R1576R	MYO18B_uc003aca.1_Silent_p.R1457R|MYO18B_uc010guy.1_Silent_p.R1458R|MYO18B_uc010guz.1_Silent_p.R1456R|MYO18B_uc011aka.1_Silent_p.R730R|MYO18B_uc011akb.1_Silent_p.R1089R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1576	Tail.					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						AACTGAAGAGGAAGTGCCACC	0.493000														59			26		0	0	0.004656	0	0
IGHG1	3500	broad.mit.edu	37	14	106208272	106208272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106208272C>T	uc001yse.3	-	3	672	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GCTGGGAGGGCTTTGTTGGAG	0.617000														144			104		0	0	0.014410	0	0
ALB	213	broad.mit.edu	37	4	74279174	74279174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:74279174C>T	uc003hgs.4	+	7	954	c.881C>T	c.(880-882)tCg>tTg	p.S294L	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.S102L|ALB_uc011cbf.2_Missense_Mutation_p.S184L	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	294	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S294L(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AATCAAGATTCGATCTCCAGT	0.423000														42			19		0	0	0.012319	0	0
NRAS	4893	broad.mit.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	T	T	rs121913237		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:115258747C>T	uc009wgu.3	-	1	289	c.35G>A	c.(34-36)gGt>gAt	p.G12D		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	12			G -> C (in leukemia).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(754)|p.G12S(135)|p.G12V(119)|p.G12C(84)|p.G12A(84)|p.G12R(18)|p.G12N(4)|p.G12G(4)|p.A11T(3)|p.G12E(2)|p.G12P(2)|p.G12Y(2)|p.G12T(1)|p.G12?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		CCCAACACCACCTGCTCCAAC	0.493000	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				65			63		0	0	0.014410	0	0
AGAP1	116987	broad.mit.edu	37	2	236706445	236706445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:236706445C>T	uc002vvs.3	+	6	1314	c.716C>T	c.(715-717)tCc>tTc	p.S239F	AGAP1_uc002vvt.3_Missense_Mutation_p.S239F|AGAP1_uc021vyp.1_Missense_Mutation_p.S239F	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	239	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			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						CAGCAGCTGTCCATAGGACCC	0.502000														86			162		0	0	0.014410	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117491	117491	+	RNA	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrGL000205.1:117491G>C	uc002kgk.4	+	0		c.869G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGCAGGTGGGCAGTGGCTAC	0.582000														27			9		0	0	0.004482	0	0
GRM7	2917	broad.mit.edu	37	3	7494349	7494349	+	Silent	SNP	C	T	T	rs143220145	byFrequency	TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:7494349C>T	uc003bqm.2	+	5	1504	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.F410F|GRM7_uc003bql.2_Silent_p.F410F|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	410					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAGTCCAGTTCGTGATTGACG	0.493000														32			17		0	0	0.004990	0	0
OR6C4	341418	broad.mit.edu	37	12	55945170	55945170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:55945170C>T	uc010spp.2	+	0	160	c.160C>T	c.(160-162)Cag>Tag	p.Q54*		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCCCCACCTCCAGACCCCCAT	0.418000														113			45		0	0	0.014410	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174737	150174737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150174737G>A	uc003whj.3	+	4	2197	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	623						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)		AAAGGTCAATGATCTGAGAAA	0.438000														77			43		0	0	0.009718	0	0
LASP1	3927	broad.mit.edu	37	17	37046721	37046722	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:37046721_37046722CC>TT	uc002hra.3	+	2	544_545	c.213_214CC>TT	c.(211-216)aacctt>aaTTtt	p.L72F	LASP1_uc010wdy.1_Missense_Mutation_p.L72F|LASP1_uc010cvq.3_5'UTR|LASP1_uc010wdz.2_Intron	NM_006148	NP_006139	Q14847	LASP1_HUMAN	Homo sapiens LIM and SH3 protein 1 (LASP1), mRNA.	72						cortical actin cytoskeleton	SH3/SH2 adaptor activity|ion transmembrane transporter activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CCCCGGAAAACCTTCGCCTCAA	0.624000			T	MLL	AML									68			19		0	0	0.004672	0	0
DDX60L	91351	broad.mit.edu	37	4	169337923	169337923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:169337923C>T	uc021xuh.1	-	18	2746	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	DDX60L_uc003irq.4_Missense_Mutation_p.G879E|DDX60L_uc003irr.1_Missense_Mutation_p.G879E|DDX60L_uc003irs.1_Missense_Mutation_p.G574E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	879	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAATTTTGCTCCAACTTCTCT	0.338000														35			22		0	0	0.003954	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409412	56409412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:56409412C>T	uc001njb.1	-	0	504	c.504G>A	c.(502-504)atG>atA	p.M168I	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ACCTAAAAGTCATCCCTGTAT	0.458000														88			24		0	0	0.003954	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132994	91132994	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:91132994G>A	uc004efk.2	+	1	2600	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PCDH11X_uc004efl.2_Silent_p.R585R|PCDH11X_uc010nmv.2_Silent_p.R585R|PCDH11X_uc004efm.2_Silent_p.R585R|PCDH11X_uc004efn.2_Silent_p.R585R|PCDH11X_uc004efo.2_Silent_p.R585R|PCDH11X_uc004efh.2_Silent_p.R585R|PCDH11X_uc004efj.1_Silent_p.R585R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	585	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTCCAAGGCATGGTACAG	0.393000														7			27		0	0	0.010818	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956018	18956018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:18956018G>A	uc001mpg.3	-	0	532	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	105					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAAAGTAGGAAAACATCAT	0.547000														257			45		0	0	0.014410	0	0
OVOS2	0	broad.mit.edu	37	12	31310951	31310951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:31310951C>T	uc010sjy.1	-	5	664	c.664G>A	c.(664-666)Gat>Aat	p.D222N						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AATTCATCATCTGAAATAGTT	0.403000														55			27		0	0	0.009535	0	0
ASB17	127247	broad.mit.edu	37	1	76397911	76397911	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:76397911G>A	uc001dhe.2	-	0	206	c.66C>T	c.(64-66)ctC>ctT	p.L22L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	22					intracellular signal transduction			p.L22I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTTTGTCAAGGAGATTGCAGA	0.358000														54			21		0	0	0.010504	0	0
C12orf63	374467	broad.mit.edu	37	12	97158896	97158896	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:97158896G>A	uc021rcc.1	+	26	3534	c.3456G>A	c.(3454-3456)aaG>aaA	p.K1152K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1152										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTATTGGAAAGAAGAATACTA	0.313000														71			29		0	0	0.004289	0	0
KCNN1	3780	broad.mit.edu	37	19	18100635	18100635	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:18100635C>T	uc002nht.3	+	7	1591	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	KCNN1_uc010xqa.1_Silent_p.F427F	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	427	Calmodulin-binding (By similarity).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						AGCGTAAGTTCCTCCAAGCCA	0.572000														48			26		0	0	0.007291	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526843	35526843	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:35526843C>T	uc002xgh.2	-	14	1808	c.1608_splice	c.e14+1	p.Q536_splice	SAMHD1_uc010gft.2_Intron	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	536					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AAGTAGTTACCTGGTTTTTAG	0.323000														74			31		0	0	0.008361	0	0
KCNT2	343450	broad.mit.edu	37	1	196227595	196227595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:196227595C>T	uc001gtd.1	-	25	3000	c.2940G>A	c.(2938-2940)tgG>tgA	p.W980*	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Nonsense_Mutation_p.W913*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.W956*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Nonsense_Mutation_p.W484*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	980						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGTGTCTTCCCACTCTTCTA	0.388000														85			40		0	0	0.009718	0	0
PROKR2	128674	broad.mit.edu	37	20	5282768	5282768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr20:5282768C>T	uc010zqw.2	-	1	1081	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	PROKR2_uc010zqx.2_Missense_Mutation_p.G358E|PROKR2_uc010zqy.2_Missense_Mutation_p.G358E	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	358						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						GGACTTGCTCCCCCGCTGGGA	0.547000										HNSCC(71;0.22)				59			16		0	0	0.004990	0	0
SCN11A	11280	broad.mit.edu	37	3	38962691	38962691	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38962691C>T	uc021wvy.1	-	5	967	c.768G>A	c.(766-768)gtG>gtA	p.V256V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	256					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)	TGAGGATAATCACGTTGACCA	0.532000														101			54		0	0	0.014410	0	0
FCRL5	83416	broad.mit.edu	37	1	157497595	157497595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:157497595C>T	uc009wsm.3	-	8	1930	c.1772G>A	c.(1771-1773)aGa>aAa	p.R591K	FCRL5_uc001fqu.3_Missense_Mutation_p.R591K|FCRL5_uc010phv.1_Missense_Mutation_p.R591K|FCRL5_uc010phw.1_Missense_Mutation_p.R506K	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	591	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.P590L(1)		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)				GGGAGAGCCTCTCGGGGCCTC	0.602000														77			46		0	0	0.014410	0	0
CHP2	63928	broad.mit.edu	37	16	23768600	23768600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:23768600G>A	uc002dmb.1	+	5	916	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	165	EF-hand 4.						calcium ion binding	p.D165D(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCAGGAGGCTGATGAAGATGG	0.567000														36			15		0	0	0.002450	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212466	50212466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:50212466C>T	uc001zxu.3	-	17	2042	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ATP8B4_uc010ber.3_Missense_Mutation_p.E507K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E444K|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	634					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E634K(2)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCAATTTCTTCATATAGCCCA	0.393000														80			33		0	0	0.005524	0	0
EIF3A	8661	broad.mit.edu	37	10	120816534	120816534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:120816534G>A	uc001ldu.3	-	12	2142	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	EIF3A_uc010qsu.2_Missense_Mutation_p.P632S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	666	Glu-rich.|Interaction with EIF3B.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATAAAATCTGGATCCAATTCC	0.343000														9			17		0	0	0.004990	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806072	3806072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:3806072G>A	uc010sen.1	-	3	666	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	EFCAB4B_uc001qmj.2_Missense_Mutation_p.P32S	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	32					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGTCCAGGGGATGCAGGCAG	0.612000														28			13		0	0	0.001855	0	0
MLXIP	22877	broad.mit.edu	37	12	122616872	122616872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:122616872C>T	uc001ubq.3	+	7	1142	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	MLXIP_uc001ubr.3_Missense_Mutation_p.S96F|MLXIP_uc001ubs.1_Intron|MLXIP_uc001ubt.3_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	345	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTTTTGGCTCCATGCTACCT	0.552000														13			5		0	0	0.003080	0	0
COL8A1	1295	broad.mit.edu	37	3	99513871	99513871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:99513871G>A	uc003dti.1	+	2	1257	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.E376K|COL8A1_uc003dth.1_Missense_Mutation_p.E376K	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	376	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACCAAGAGGGGAGAAAGGACC	0.617000														19			9		0	0	0.004482	0	0
KCNU1	157855	broad.mit.edu	37	8	36768475	36768475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:36768475C>T	uc010lvw.3	+	21	2446	c.2359C>T	c.(2359-2361)Cat>Tat	p.H787Y	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	787						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGGAGACCTCCATGCGGCCAA	0.527000														51			20		0	0	0.012319	0	0
NLRP4	147945	broad.mit.edu	37	19	56370296	56370296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56370296G>A	uc002qmd.4	+	2	1959	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	NLRP4_uc002qmf.3_Missense_Mutation_p.E438K|NLRP4_uc010etf.3_Missense_Mutation_p.E344K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	513							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAAGGAACAAGAAAAACTGGA	0.423000														59			28		0	0	0.006320	0	0
HTR2C	3358	broad.mit.edu	37	X	114141517	114141517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:114141517G>A	uc004epu.1	+	5	1644	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	HTR2C_uc010nqc.1_Missense_Mutation_p.E306K|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	306					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TATCAACAATGAAAGAAAAGC	0.443000														32			40		0	0	0.006999	0	0
OR10K1	391109	broad.mit.edu	37	1	158435387	158435387	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158435387C>T	uc010pij.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGAGAGAGTTCGTCGTCCTCG	0.512000														60			23		0	0	0.002780	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564444	46564444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:46564444G>A	uc001ncv.2	-	7	1167	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q375*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q285*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.Q375*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q285*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q375*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	375					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTGCTGCTCTGGACTGTACTG	0.627000														106			52		0	0	0.014410	0	0
TMEM87A	25963	broad.mit.edu	37	15	42519037	42519037	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:42519037A>T	uc021sjr.1	-	14	1529	c.1370T>A	c.(1369-1371)aTg>aAg	p.M457K		NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	Homo sapiens transmembrane protein 87A (TMEM87A), transcript variant 1, mRNA.	457						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CCAGAGAACCATGATGACAAA	0.483000														120			50		0	0	0.014410	0	0
PRX	57716	broad.mit.edu	37	19	40902863	40902863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:40902863G>A	uc002onr.3	-	6	1665	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	PRX_uc002onq.3_Missense_Mutation_p.P327S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	466	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			TCCACCTCTGGGAGTCGAACC	0.597000														111			58		0	0	0.014410	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270181	36270181	+	Missense_Mutation	SNP	G	A	A	rs144648025		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:36270181G>A	uc010jwf.2	+	5	1319	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	PNPLA1_uc010jwe.1_Missense_Mutation_p.R354Q|PNPLA1_uc003olw.1_Missense_Mutation_p.R345Q	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	440	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACACTGCCCCGAAGTTCTCTT	0.572000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			45		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100678548	100678548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100678548C>T	uc003uxp.1	+	2	3904	c.3851C>T	c.(3850-3852)cCt>cTt	p.P1284L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1284	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)					ACAAGTATACCTGTCAGCACC	0.473000														177			74		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179590133	179590133	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179590133C>G	uc021vsy.1	-	67	17291	c.17066G>C	c.(17065-17067)gGt>gCt	p.G5689A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2350A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6616	Ig-like 37.						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)			CCTCATTCCACCATCATTCTT	0.413000														6			12		0	0	0.003163	0	0
C4orf50	389197	broad.mit.edu	37	4	5961113	5961113	+	RNA	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:5961113A>G	uc003git.2	-	6		c.2118T>C						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TACATTTCTAACTCCAGCGGT	0.453000														79			36		0	0	0.010771	0	0
LOC646813	646813	broad.mit.edu	37	11	50379319	50379319	+	RNA	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:50379319T>C	uc001nhe.2	+	5		c.802T>C			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		ACAGGAAAATTGCAACTTGAT	0.393000														13			8		0	0	0.003080	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881727	228881727	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:228881727G>A	uc002vpq.2	-	6	3890	c.3843C>T	c.(3841-3843)tcC>tcT	p.S1281S	SPHKAP_uc002vpp.2_Silent_p.S1281S|SPHKAP_uc010zlx.1_Silent_p.S1281S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1281						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCGGATGAGGACGCGCTAC	0.507000														25			38		0	0	0.008740	0	0
FCRL6	343413	broad.mit.edu	37	1	159785397	159785397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:159785397G>A	uc001fud.4	+	9	1293	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	FCRL6_uc001fuc.2_3'UTR|FCRL6_uc009wsz.1_3'UTR|FCRL6_uc009wta.3_3'UTR	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	417						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGTGAATATGAGAAGCAGGA	0.537000														97			28		0	0	0.006320	0	0
RPH3A	22895	broad.mit.edu	37	12	113334571	113334571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:113334571G>A	uc010syl.2	+	21	2433	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	RPH3A_uc001ttz.3_Missense_Mutation_p.V691M|RPH3A_uc001tty.3_Missense_Mutation_p.V687M|RPH3A_uc010sym.2_Missense_Mutation_p.V642M|RPH3A_uc001tua.3_Missense_Mutation_p.V451M	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	691					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			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)		TGAGAACCACGTGTCAAGTGA	0.537000														35			13		0	0	0.013537	0	0
PLCE1	51196	broad.mit.edu	37	10	95791085	95791085	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:95791085C>T	uc001kjk.3	+	1	916	c.282C>T	c.(280-282)atC>atT	p.I94I	PLCE1_uc010qnx.2_Silent_p.I94I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	94					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGGAGAAAATCATGCCAGATT	0.378000														21			23		0	0	0.002780	0	0
KLHL13	90293	broad.mit.edu	37	X	117053560	117053560	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:117053560T>C	uc011mtp.2	-	4	636	c.503A>G	c.(502-504)cAa>cGa	p.Q168R	KLHL13_uc004eqk.3_Missense_Mutation_p.Q114R|KLHL13_uc004eql.3_Missense_Mutation_p.Q165R|KLHL13_uc011mtn.2_Missense_Mutation_p.Q5R|KLHL13_uc011mto.2_Missense_Mutation_p.Q159R|KLHL13_uc011mtq.2_Missense_Mutation_p.Q149R|KLHL13_uc004eqm.3_Missense_Mutation_p.Q123R|KLHL13_uc022cde.1_Missense_Mutation_p.Q149R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	165					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						CAGCGTGTCTTGAAGGTTGTC	0.363000														15			43		0	0	0.008740	0	0
C3orf39	84892	broad.mit.edu	37	3	43122588	43122588	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:43122588G>A	uc003cmr.1	-	1	679	c.336C>T	c.(334-336)ttC>ttT	p.F112F	C3orf39_uc003cmq.1_Silent_p.F112F|C3orf39_uc021wwn.1_Silent_p.F112F	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	112						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GGGCTGGCTGGAAGCGCCGGG	0.602000														47			24		0	0	0.014323	0	0
TRERF1	55809	broad.mit.edu	37	6	42224802	42224802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:42224802G>A	uc003ose.2	-	10	2998	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L	TRERF1_uc011duq.1_Missense_Mutation_p.P709L|TRERF1_uc003osb.2_Missense_Mutation_p.P548L|TRERF1_uc003osc.2_Missense_Mutation_p.P548L|TRERF1_uc003osd.2_Missense_Mutation_p.P792L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	792	ELM2.|Interacts with CREBBP.				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)			TTGGAGTTCAGGGATTTCTGC	0.478000														70			70		0	0	0.014410	0	0
CEP70	80321	broad.mit.edu	37	3	138251411	138251411	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:138251411A>G	uc003esl.3	-	8	834	c.636_splice	c.e8-1	p.Q212_splice	CEP70_uc011bmk.2_Splice_Site_p.Q192_splice|CEP70_uc011bml.2_Splice_Site_p.Q194_splice|CEP70_uc011bmm.2_Splice_Site_p.Q60_splice|CEP70_uc003esm.3_Splice_Site_p.Q212_splice	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	212					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AGACAAAGCAACCTAGAAAAC	0.279000														102			86		0	0	0.014410	0	0
SCYL3	57147	broad.mit.edu	37	1	169833638	169833638	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:169833638T>A	uc001ggs.2	-	8	1025	c.827A>T	c.(826-828)gAc>gTc	p.D276V	SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.D276V	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	276					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTGACTCTGTCCAGCAGAAA	0.458000														52			36		0	0	0.003271	0	0
ADH7	131	broad.mit.edu	37	4	100349108	100349108	+	Missense_Mutation	SNP	C	T	T	rs72552718		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:100349108C>T	uc003huv.2	-	4	663	c.422G>A	c.(421-423)aGa>aAa	p.R141K	ADH7_uc021xqj.1_Missense_Mutation_p.R149K	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	141					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)	GCATGTAAATCTGGTGGTGCC	0.383000														85			37		0	0	0.006999	0	0
OR2B2	81697	broad.mit.edu	37	6	27879209	27879209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:27879209C>T	uc011dkw.2	-	0	966	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCTTCCTTTACCTCTTTGTTC	0.388000														104			17		0	0	0.004990	0	0
AQP12A	375318	broad.mit.edu	37	2	241631577	241631577	+	Silent	SNP	G	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:241631577G>C	uc002vzu.3	+	1	279	c.210G>C	c.(208-210)gcG>gcC	p.A70A	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	70						integral to membrane	transporter activity	p.A70A(2)|p.A70V(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		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)		TCTTCCTGGCGCACGGGGTCA	0.667000														52			4		0	0	0.008291	0	0
CCDC8	83987	broad.mit.edu	37	19	46915445	46915445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:46915445C>T	uc002pep.3	-	0	1475	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	208						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCACCCTCCGCTTCAGCTT	0.692000														19			8		0	0	0.003080	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249396	3249396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:3249396G>A	uc021qcj.1	-	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	MRGPRE_uc001lxq.4_Missense_Mutation_p.P211S	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCCCCGGGGTGGGGGCCGC	0.677000														7			3		0	0	0.004672	0	0
LPAR2	9170	broad.mit.edu	37	19	19737444	19737444	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:19737444C>A	uc002nnb.4	-	1	789	c.650G>T	c.(649-651)cGg>cTg	p.R217L	LPAR2_uc002nna.4_Missense_Mutation_p.R217L|LPAR2_uc002nnc.4_Missense_Mutation_p.R217L	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA.	217					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	p.R216Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CTGCACTCGCCGCCGCACGTA	0.602000														69			31		8.16721e-17	8.60001e-17	0.010818	1	0
NBN	4683	broad.mit.edu	37	8	90965699	90965699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:90965699G>A	uc003yej.1	-	10	1728	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	NBN_uc011lgb.1_Missense_Mutation_p.H540Y|NBN_uc003yei.1_Missense_Mutation_p.H458Y	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	540					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGCAGCATGAGATTTACTG	0.348000								Homologous recombination						92			40		0	0	0.004878	0	0
DSG3	1830	broad.mit.edu	37	18	29055672	29055672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr18:29055672G>A	uc002kws.3	+	15	2558	c.2449G>A	c.(2449-2451)Gat>Aat	p.D817N	DSG3_uc002kwt.3_Missense_Mutation_p.D99N	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	817					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTGATCTATGATAATGAAGG	0.458000														46			39		0	0	0.010771	0	0
DMXL2	23312	broad.mit.edu	37	15	51791231	51791231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:51791231C>T	uc010ufy.2	-	17	4415	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q	DMXL2_uc002abf.3_Missense_Mutation_p.R1397Q|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1397						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R1397Q(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACTAATAGTTCGAGAGAGATG	0.413000														175			65		0	0	0.014410	0	0
ARSF	416	broad.mit.edu	37	X	3028241	3028241	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:3028241C>T	uc022brz.1	+	9	1474	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	ARSF_uc004cre.2_Silent_p.F446F|ARSF_uc004crf.2_Silent_p.F446F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	446						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)				AATTTCTTTTCCACTACTGTG	0.582000														20			35		0	0	0.004289	0	0
SCN11A	11280	broad.mit.edu	37	3	38889207	38889207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:38889207G>A	uc021wvy.1	-	25	4553	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1452					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)	ATGTGCTCCTGATTTTCCAAG	0.507000														24			13		0	0	0.002450	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141013	143141013	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143141013C>T	uc011ktg.2	+	0	468	c.468C>T	c.(466-468)acC>acT	p.T156T	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	156					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCTTCACCACCATTCTATTTT	0.473000														105			69		0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34192204	34192204	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:34192204G>A	uc001bxm.1	-	15	2628	c.2451C>T	c.(2449-2451)agC>agT	p.S817S	CSMD2_uc001bxn.1_Silent_p.S777S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	777	CUB 5.					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)				CCCAGGCACAGCTCAAGGCAT	0.612000														49			24		0	0	0.002780	0	0
BRPF1	7862	broad.mit.edu	37	3	9776317	9776317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:9776317C>T	uc003bse.3	+	1	892	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	BRPF1_uc003bsf.3_Missense_Mutation_p.H165Y|BRPF1_uc003bsg.3_Missense_Mutation_p.H165Y|BRPF1_uc011ati.2_Missense_Mutation_p.H165Y	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	165	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCATCACCACCACCACAATGT	0.557000														31			13		0	0	0.001855	0	0
ABCG8	64241	broad.mit.edu	37	2	44102518	44102518	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:44102518G>A	uc002rtq.3	+	10	1812	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G	ABCG8_uc010yoa.2_Silent_p.G573G	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	574	ABC transmembrane type-2.		G -> E (in STSL).|G -> R (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCTCGCCGGGGGCTTCATGA	0.602000														124			243		0	0	0.014410	0	0
CDH9	1007	broad.mit.edu	37	5	26881369	26881369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:26881369G>A	uc003jgs.1	-	11	2415	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	CDH9_uc011cnv.1_Missense_Mutation_p.S342L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S749S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGAACTGAGCGAATCTGCTAT	0.443000														36			48		0	0	0.014410	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048491	90048491	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:90048491G>A	uc001dni.3	+	6	789	c.282G>A	c.(280-282)caG>caA	p.Q94Q	LRRC8B_uc001dnh.3_Silent_p.Q94Q|LRRC8B_uc001dnj.3_Silent_p.Q94Q	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	94						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCCGAATTCAGAATGACCTCC	0.502000														79			31		0	0	0.003271	0	0
KIAA1549	57670	broad.mit.edu	37	7	138596019	138596019	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:138596019G>A	uc011kql.2	-	3	3067	c.3018C>T	c.(3016-3018)ttC>ttT	p.F1006F	KIAA1549_uc011kqj.2_Silent_p.F1006F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1006						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGTGTAAACGAAAGGACCGG	0.383000			O	BRAF	pilocytic astrocytoma									9			7		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	15	22473085	22473085	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:22473085C>T	uc001yuj.2	-	6		c.243G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGGGGCT	0.572000														162			25		0	0	0.002780	0	0
DNAH10	196385	broad.mit.edu	37	12	124350589	124350589	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:124350589G>A	uc001uft.4	+	39	6807	c.6782G>A	c.(6781-6783)tGg>tAg	p.W2261*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2261	AAA 2 (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)		CGACCATACTGGAAAAAATGG	0.343000														30			18		0	0	0.004990	0	0
SLC38A8	146167	broad.mit.edu	37	16	84066964	84066964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:84066964G>A	uc002fhg.1	-	2	499	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	167					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTCCCGCGGGGCAGACAGG	0.657000														133			54		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	106622086	106622086	+	RNA	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr14:106622086C>T	uc021ser.1	-	1605		c.31226G>A								Parts of antibodies, mostly variable regions.																		GGGCCCAGTTCATGTCACTGT	0.592000														61			79		0	0	0.014410	0	0
F5	2153	broad.mit.edu	37	1	169529805	169529805	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:169529805A>C	uc001ggg.1	-	3	718	c.573T>G	c.(571-573)ctT>ctG	p.L191L	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	191	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTACAGATAAGCAGGGGCC	0.473000														130			26		0	0	0.003954	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575369	86575369	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:86575369G>A	uc002fjn.3	-	6	666	c.615C>T	c.(613-615)ctC>ctT	p.L205L	MTHFSD_uc002fjm.3_Silent_p.L204L|MTHFSD_uc010voo.2_Silent_p.L185L|MTHFSD_uc010vop.2_Silent_p.L42L|MTHFSD_uc010voq.2_Silent_p.L204L|MTHFSD_uc010vor.2_Silent_p.L205L|MTHFSD_uc002fjo.3_Silent_p.L42L|MTHFSD_uc002fjp.2_Silent_p.L185L	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	205					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGTTGGAGTGAGGATGTAGT	0.582000														60			29		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179585223	179585223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr2:179585223C>T	uc021vsy.1	-	76	19759	c.19534G>A	c.(19534-19536)Gat>Aat	p.D6512N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3173N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7439	Ig-like 46.						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)			AGACTTGTATCAAAATGTTTT	0.393000														25			53		0	0	0.014410	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410572	32410572	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:32410572C>T	uc010glt.3	-	0	224	c.191G>A	c.(190-192)tGa>tAa	p.*64*		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA.	0						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GTTCACTCTTCAGTAGAAGGC	0.473000														76			30		0	0	0.013726	0	0
CHP2	63928	broad.mit.edu	37	16	23767750	23767750	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:23767750T>G	uc002dmb.1	+	4	817	c.394T>G	c.(394-396)Tcc>Gcc	p.S132A		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	132	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGGGAAGATCTCCAGGCATGA	0.542000														15			11		0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152282971	152282971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:152282971C>T	uc001ezu.1	-	2	4427	c.4391G>A	c.(4390-4392)gGa>gAa	p.G1464E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TCCTTGTCTTCCTCCAGTGCT	0.567000									Ichthyosis					300			82		0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113312281	113312281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:113312281C>T	uc010mtz.3	-	1	972	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	SVEP1_uc010mua.1_Missense_Mutation_p.R212Q|SVEP1_uc004beu.2_Missense_Mutation_p.R212Q|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	212	VWFA.				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						TCCTGAATCTCGCAGTGACGC	0.458000														34			42		0	0	0.007835	0	0
SBK2	646643	broad.mit.edu	37	19	56041190	56041190	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:56041190G>A	uc010ygc.2	-	3	972	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTGATGGCGATCACAGCGC	0.756000														35			20		0	0	0.014323	0	0
LAMA4	3910	broad.mit.edu	37	6	112537645	112537645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:112537645G>A	uc003pvu.2	-	2	530	c.221C>T	c.(220-222)aCc>aTc	p.T74I	LAMA4_uc003pvv.2_Missense_Mutation_p.T74I|LAMA4_uc003pvt.2_Missense_Mutation_p.T74I|LAMA4_uc003pvw.2_Missense_Mutation_p.T74I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	74					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCCGACAGGGTGTGAAAGAA	0.428000														34			11		0	0	0.013537	0	0
OR1J2	26740	broad.mit.edu	37	9	125273173	125273173	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:125273173C>T	uc011lyv.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	OR1J2_uc004bmj.2_Silent_p.F31F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCACCCTGTTCCTGGGCATGT	0.587000														51			64		0	0	0.014410	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815664	106815664	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:106815664G>A	uc003ymd.3	+	7	3377	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	ZFPM2_uc011lhs.2_Silent_p.G849G	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1118					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCAGTGGGAAATATTGCC	0.428000														15			5		0	0	0.000602	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153515	193153515	+	Silent	SNP	G	A	A	rs146990016		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:193153515G>A	uc003ftd.3	-	23	2799	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	897					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)		AGGAGGTAACGAGAGCTGCAC	0.428000														35			24		0	0	0.004656	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433735	73433735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:73433735G>A	uc003dpl.1	-	9	2078	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L	PDZRN3_uc011bgh.1_Missense_Mutation_p.P318L|PDZRN3_uc010hoe.1_Missense_Mutation_p.P359L|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Missense_Mutation_p.P378L|PDZRN3_uc011bgg.1_Missense_Mutation_p.P381L	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	661							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAGGCCGTAAGGGGTGGCGCT	0.667000														51			26		0	0	0.005443	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55315353	55315353	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:55315353C>T	uc010yfl.2	+	1	75	c.42C>T	c.(40-42)ttC>ttT	p.F14F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Silent_p.F16F|KIR3DL2_uc002qhg.3_Silent_p.F16F|KIR3DL2_uc002qhi.3_Silent_p.F16F|KIR3DL2_uc021vbn.1_Silent_p.F16F|KIR3DL2_uc002qhh.3_Silent_p.F16F|KIR3DL2_uc002qhj.3_Silent_p.F16F|KIR3DL2_uc010esd.3_Silent_p.F16F|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	14					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGTTCTTCTTGGACCAGA	0.502000														28			56		0	0	0.014410	0	0
MYO1F	4542	broad.mit.edu	37	19	8610586	8610586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:8610586G>A	uc002mkg.3	-	12	1442	c.1304C>T	c.(1303-1305)cCa>cTa	p.P435L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	435	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTACTGGATTGGAGTCCAGCG	0.577000														167			89		0	0	0.014410	0	0
NRAP	4892	broad.mit.edu	37	10	115389533	115389533	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:115389533C>T	uc001lal.3	-	18	2018	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Silent_p.K618K|NRAP_uc001lak.3_Silent_p.K583K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	618						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)		CAAAGCCTTTCTTATATTCAA	0.463000														17			11		0	0	0.010729	0	0
TMEM245	23731	broad.mit.edu	37	9	111812952	111812952	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:111812952G>A	uc004bdt.4	-	12	1907	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	TMEM245_uc022bln.1_Silent_p.I177I|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	625						integral to membrane											GGCTCATAACGATCCACAGAG	0.458000														16			13		0	0	0.003163	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911876	158911876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:158911876C>T	uc001ftb.3	+	4	939	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PYHIN1_uc001ftc.3_Missense_Mutation_p.S221F|PYHIN1_uc001ftd.3_Missense_Mutation_p.S230F|PYHIN1_uc001fte.3_Missense_Mutation_p.S221F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	230	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATGAATCCTCAGAAAAT	0.383000														52			25		0	0	0.005443	0	0
BZRAP1	9256	broad.mit.edu	37	17	56384997	56384997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:56384997G>A	uc002ivx.4	-	23	5829	c.4958C>T	c.(4957-4959)cCc>cTc	p.P1653L	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1593L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1653L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1653	SH3 2.					mitochondrion	benzodiazepine receptor binding	p.P1653F(3)		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)					CTCTCGGAAGGGAAGCTCTTC	0.547000														25			16		0	0	0.004007	0	0
RABEP2	79874	broad.mit.edu	37	16	28925996	28925996	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:28925996G>A	uc002drq.3	-	3	588	c.540C>T	c.(538-540)atC>atT	p.I180I	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.I109I|RABEP2_uc010byn.3_Silent_p.I180I|RABEP2_uc002drr.3_Silent_p.I180I	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	180					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						CCCTCACCTGGATCTCCTGAA	0.662000														82			31		0	0	0.003755	0	0
OR2A5	393046	broad.mit.edu	37	7	143747845	143747845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:143747845G>A	uc011ktw.2	+	0	351	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V116L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTTGGTAATGATGTCCTACG	0.458000														120			44		0	0	0.011902	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193023	102193023	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:102193023C>T	uc004ejs.3	+	0	824	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	259					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAGTGAAGATCGTCTGCCCAC	0.537000														18			39		0	0	0.004878	0	0
FNDC1	84624	broad.mit.edu	37	6	159670212	159670212	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:159670212T>C	uc010kjv.3	+	15	5032	c.4832T>C	c.(4831-4833)gTt>gCt	p.V1611A		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1611						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAACGATTTGTTGGTAAATAT	0.438000														14			7		0	0	0.003080	0	0
UNC13C	440279	broad.mit.edu	37	15	54825229	54825229	+	Silent	SNP	T	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr15:54825229T>C	uc021smr.1	+	23	5655	c.5655T>C	c.(5653-5655)atT>atC	p.I1885I	UNC13C_uc021sms.1_Silent_p.I1887I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1887					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A1885T(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGCAGAGATTGTGTTAAGAT	0.338000														8			6		0	0	0.003080	0	0
OVCH2	341277	broad.mit.edu	37	11	7721858	7721858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:7721858C>T	uc010rbf.2	-	6	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGGATGTGTTCGTGGATCCAG	0.493000														20			10		0	0	0.008291	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933731	62933731	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:62933731C>T	uc001nwr.1	-	7	1071	c.1071_splice	c.e7-1	p.R357_splice	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Splice_Site|SLC22A25_uc001nws.1_Splice_Site|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	357					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACTTGCAAATCTGCAGGGAAC	0.433000														29			14		0	0	0.004990	0	0
CACNA1B	774	broad.mit.edu	37	9	140809221	140809221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr9:140809221G>A	uc004cog.3	+	4	883	c.738G>A	c.(736-738)atG>atA	p.M246I	CACNA1B_uc022bqn.1_Missense_Mutation_p.M246I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	246					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGTTCTACATGGGCAAGTTCC	0.552000														8			10		0	0	0.010729	0	0
ZG16B	124220	broad.mit.edu	37	16	2880726	2880726	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr16:2880726C>T	uc002cru.3	+	2	268	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	64						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GCAAGTATTTCAGCACCACTG	0.527000														111			59		0	0	0.014410	0	0
ANKRD55	79722	broad.mit.edu	37	5	55528733	55528733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:55528733C>T	uc003jqu.3	-	1	160	c.8G>A	c.(7-9)aGa>aAa	p.R3K		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	2										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGTAGCCTGTCTCATCATTTA	0.428000														40			4		0	0	0.009096	0	0
SMG8	55181	broad.mit.edu	37	17	57290928	57290928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:57290928C>T	uc002ixi.3	+	2	2786	c.2744C>T	c.(2743-2745)cCt>cTt	p.P915L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	915					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTTGTGGTTCCTGATGCTCCT	0.393000														110			45		0	0	0.014410	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900428	151900428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chrX:151900428G>A	uc022chj.1	-	0	373	c.373C>T	c.(373-375)Cga>Tga	p.R125*	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Nonsense_Mutation_p.R125*|MAGEA12_uc022chi.1_Nonsense_Mutation_p.R125*|MAGEA12_uc004fgc.3_Nonsense_Mutation_p.R125*|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	125	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGGCTCGATACTTGAGG	0.498000														30			46		0	0	0.014410	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253759	11253759	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:11253759G>A	uc001ase.3	+	2	839	c.600G>A	c.(598-600)ggG>ggA	p.G200G	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	200	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCATCCGTGGGGACTTCTGGC	0.602000														37			17		0	0	0.004990	0	0
DENND5B	160518	broad.mit.edu	37	12	31566412	31566412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:31566412G>A	uc001rkh.1	-	14	2895	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	DENND5B_uc001rki.1_Missense_Mutation_p.S880F	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	880	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGATGCTGGGACAAGAGCTT	0.403000														65			24		0	0	0.002780	0	0
LRRK2	120892	broad.mit.edu	37	12	40643657	40643657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:40643657G>A	uc001rmg.4	+	7	989	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LRRK2_uc001rmh.1_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	290					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E290K(3)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTATTAAACGAAGTCCATGA	0.388000														31			19		0	0	0.006122	0	0
GSDMB	55876	broad.mit.edu	37	17	38062490	38062490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:38062490C>T	uc010cwj.3	-	7	893	c.762G>A	c.(760-762)atG>atA	p.M254I	GSDMB_uc010cwi.3_Missense_Mutation_p.M1I|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Missense_Mutation_p.M232I|GSDMB_uc002hth.3_Missense_Mutation_p.M241I|GSDMB_uc010wem.2_Missense_Mutation_p.M245I	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	249						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ACTTCTCCTTCATGTTTCTGG	0.498000														56			20		0	0	0.002780	0	0
DHX33	56919	broad.mit.edu	37	17	5347575	5347575	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:5347575C>A	uc002gca.3	-	11	2275	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	DHX33_uc002gbz.3_Nonsense_Mutation_p.E463*|DHX33_uc002gcb.3_Nonsense_Mutation_p.E519*|DHX33_uc010clf.3_Nonsense_Mutation_p.E527*	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	692						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGGGCAGCCTCGTACAGCCAC	0.587000														24			4		0.00909568	0.00951245	0.009096	1	0
DERL2	51009	broad.mit.edu	37	17	5388504	5388504	+	Silent	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:5388504G>A	uc002gcc.1	-	1	139	c.126C>T	c.(124-126)taC>taT	p.Y42Y	MIS12_uc002gcd.3_5'Flank|MIS12_uc002gce.3_5'Flank	NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	42					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CAGGATTGAAGTACAACTGAA	0.294000														21			11		0	0	0.013537	0	0
CACNA1C	775	broad.mit.edu	37	12	2693758	2693758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:2693758G>A	uc009zdu.1	+	15	2627	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E772K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E772K|CACNA1C_uc001qke.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E772K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E772K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E772K|CACNA1C_uc001qko.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E772K|CACNA1C_uc001qku.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E772K|CACNA1C_uc001qks.2_Missense_Mutation_p.E772K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E772K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E769K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E772K|CACNA1C_uc001qka.1_Missense_Mutation_p.E307K|CACNA1C_uc001qki.1_Missense_Mutation_p.E508K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	772	Poly-Glu.				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)	ggaggaagaggagaaggagag	0.542000														47			18		0	0	0.007413	0	0
SLC25A13	10165	broad.mit.edu	37	7	95813734	95813734	+	Silent	SNP	A	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:95813734A>C	uc003uog.4	-	10	1226	c.1035T>G	c.(1033-1035)acT>acG	p.T345T	SLC25A13_uc003uof.4_Silent_p.T344T|SLC25A13_uc011kik.2_Silent_p.T236T	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	344					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GATACACAGCAGTGGCTCCAA	0.373000														21			5		0	0	0.001168	0	0
OR51B5	282763	broad.mit.edu	37	11	5363817	5363817	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:5363817C>T	uc001map.1	-	1	939	c.939_splice	c.e1+1	p.*313_splice	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.*313*	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGAGATCAGGTTCCAAT	0.383000														26			11		0	0	0.010729	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651428	117651428	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:117651428C>T	uc001prh.1	-	1	326	c.324G>A	c.(322-324)ccG>ccA	p.P108P	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	48	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCCCGCGGCCGGGCAGGGCA	0.662000														24			19		0	0	0.008871	0	0
PDZD8	118987	broad.mit.edu	37	10	119044225	119044225	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr10:119044225C>T	uc001lde.1	-	4	2218	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	673					intracellular signal transduction		metal ion binding	p.S673L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GACGGTCGTCCGAACTGTCCT	0.428000														31			28		0	0	0.008361	0	0
ABCG1	9619	broad.mit.edu	37	21	43704787	43704787	+	Silent	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:43704787C>T	uc011aev.2	+	6	959	c.885C>T	c.(883-885)ttC>ttT	p.F295F	ABCG1_uc002zam.3_Silent_p.F262F|ABCG1_uc002zan.3_Silent_p.F286F|ABCG1_uc002zao.3_Silent_p.F281F|ABCG1_uc002zap.3_Silent_p.F284F|ABCG1_uc002zaq.3_Silent_p.F284F|ABCG1_uc002zar.3_Silent_p.F295F|ABCG1_uc010gpb.2_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	284	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCGAGCTGTTCGACCAGGTAC	0.612000														76			24		0	0	0.004656	0	0
STT3B	201595	broad.mit.edu	37	3	31621363	31621363	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:31621363A>G	uc011axe.2	+	2	486	c.486A>G	c.(484-486)atA>atG	p.I162M	STT3B_uc003cer.1_Missense_Mutation_p.I162M|STT3B_uc010hft.1_Missense_Mutation_p.I162M	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	162					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CATTGAACATAACTGTTCACA	0.353000														45			26		0	0	0.003954	0	0
WHSC2	7469	broad.mit.edu	37	4	2010584	2010585	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:2010584_2010585CC>TT	uc003gem.3	-	0	378_379	c.135_136GG>AA	c.(133-138)acggcc>acAAcc	p.A46T	WHSC2_uc003gen.3_5'UTR	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	35					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		p.F45L(1)		breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			ATGACCGCGGCCGTGAGCAGGG	0.678000														17			7		0	0	0.004672	0	0
MUC6	4588	broad.mit.edu	37	11	1027319	1027319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr11:1027319C>T	uc001lsw.2	-	16	2231	c.2180G>A	c.(2179-2181)gGt>gAt	p.G727D		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	727					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAACTTGTAACCCTCCAGTAT	0.662000														144			76		0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152639236	152639236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:152639236G>A	uc021zhb.1	-	83	16775	c.16552C>T	c.(16552-16554)Cgg>Tgg	p.R5518W	SYNE1_uc003qos.4_Missense_Mutation_p.R42W|SYNE1_uc003qot.4_Missense_Mutation_p.R5447W|SYNE1_uc003qou.4_Missense_Mutation_p.R5518W|SYNE1_uc010kiz.3_Missense_Mutation_p.R1273W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5518					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)		TTGGAGAGCCGATTCTCAGCT	0.433000										HNSCC(10;0.0054)				113			50		0	0	0.014410	0	0
C1RL	51279	broad.mit.edu	37	12	7249655	7249655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr12:7249655C>T	uc001qsn.3	-	5	889	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	C1RL_uc009zft.3_Silent_p.T281T	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	266	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCCACGGCCGTGGATACTG	0.617000														27			17		0	0	0.006122	0	0
FAM135B	51059	broad.mit.edu	37	8	139164952	139164952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr8:139164952C>T	uc003yuy.3	-	12	1937	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K	FAM135B_uc003yux.3_Missense_Mutation_p.R490K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R151K|FAM135B_uc003yvb.3_Missense_Mutation_p.R151K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	589										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)			TAGCCCAGTCCTGTCTAATCC	0.448000										HNSCC(54;0.14)				109			29		0	0	0.012213	0	0
C7orf29	113763	broad.mit.edu	37	7	150028134	150028134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:150028134C>T	uc003wgy.3	+	0	1197	c.641C>T	c.(640-642)gCt>gTt	p.A214V	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	214										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GACCCCCTGGCTTACTGGGAG	0.577000														31			6		0	0	0.001168	0	0
TNR	7143	broad.mit.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr1:175362936C>T	uc001gkp.1	-	3	1417	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_uc009wwu.1_Missense_Mutation_p.E446K|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	446	Fibronectin type-III 2.				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)					AAGCTGATTTCCCACCCATCG	0.473000														196			110		0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	89949605	89949605	+	Missense_Mutation	SNP	C	T	T	rs41305898		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr5:89949605C>T	uc003kju.3	+	19	4310	c.4214C>T	c.(4213-4215)tCc>tTc	p.S1405F	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1405					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCTTGGGTTCCAATGCTACA	0.378000														24			10		0	0	0.008291	0	0
CXCR6	10663	broad.mit.edu	37	3	45988619	45988620	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:45988619_45988620delAA	uc003cpc.1	+	1	727_728	c.646_647delAA	c.(646-648)aaafs	p.K216fs	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Frame_Shift_Del_p.K216fs|CXCR6_uc021www.1_Frame_Shift_Del_p.K216fs	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	216					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGTCATAATCAAAACACTGCTT	0.495													---	118	---	---	38	---					
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482272	159482274	+	In_Frame_Del	DEL	GCA	-	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr3:159482272_159482274delGCA	uc003fcq.2	+	4	513_515	c.332_334delGCA	c.(331-336)ggcagc>ggc	p.S117del	IQCJ-SCHIP1_uc003fcr.2_In_Frame_Del_p.S90del|IQCJ-SCHIP1_uc003fcs.2_In_Frame_Del_p.S41del|IQCJ-SCHIP1_uc003fct.2_In_Frame_Del_p.S41del|IQCJ-SCHIP1_uc021xgm.1_Intron|IQCJ-SCHIP1_uc010hvz.1_In_Frame_Del_p.S14del	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	41						cytoplasm	identical protein binding|protein binding	p.S117delS(2)|p.S41delS(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGTGACGCCGgcagcagcagcag	0.635													---	6	---	---	4	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	-	-	rs111245977		TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr4:4228274_4228282delCCACAGCAG	uc003ghp.1	-	0	340_348	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													---	35	---	---	8	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	GGC	GGC			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:22570346_22570347insGGC	uc003nds.3	+	0	669_670	c.542_543insGGC	c.(541-543)agg>agGGCg	p.188_189insA		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													---	9	---	---	6	---					
SNAP91	9892	broad.mit.edu	37	6	84371317	84371324	+	Splice_Site	DEL	TCATAACC	-	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr6:84371317_84371324delTCATAACC	uc021zcf.1	-	4	380	c.350_splice	c.e4-1	p.G117_splice	SNAP91_uc003pka.3_Splice_Site_p.G117_splice|SNAP91_uc011dze.2_Splice_Site_p.G117_splice|SNAP91_uc003pkc.3_Splice_Site_p.G117_splice|SNAP91_uc003pkd.3_Splice_Site_p.G117_splice|SNAP91_uc003pkb.3_Splice_Site_p.G82_splice|SNAP91_uc011dzf.1_Splice_Site	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	117	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGTAGACATATCATAACCTGGGAGAGTG	0.341													---	44	---	---	9	---					
NYAP1	222950	broad.mit.edu	37	7	100084786	100084787	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:100084786_100084787insC	uc003uvd.1	+	2	570_571	c.411_412insC	c.(409-414)acgcccfs	p.T137fs	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	137																	GGGCAGAGACGCCCCCCAGCAA	0.668													---	23	---	---	9	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	GCCGCC	GCCGCC			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr7:103629803_103629804insGCCGCC	uc022ajr.1	-	0					RELN_uc022ajq.1_Start_Codon_Ins|RELN_uc010liz.3_Start_Codon_Ins	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													---	6	---	---	6	---					
TP53	7157	broad.mit.edu	37	17	7578267	7578267	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr17:7578267delA	uc002gim.2	-	5	776	c.582delT	c.(580-582)cttfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.3_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.2_Frame_Shift_Del_p.L155fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.H193R(72)|p.L194R(37)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.H193P(14)|p.H193D(9)|p.L194P(8)|p.L194L(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L194H(6)|p.P191_E198>Q(4)|p.H193N(4)|p.I195fs*52(3)|p.H193fs*16(3)|p.H193_I195delHLI(2)|p.L194fs*15(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.P98_E105>Q(1)|p.I63fs*>28(1)|p.L194I(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)		CCACTCGGATAAGATGCTGAG	0.552		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)			---	15	---	---	14	---					
GNA11	2767	broad.mit.edu	37	19	3119233	3119233	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr19:3119233delC	uc002lxd.3	+	5	1007	c.765delC	c.(763-765)ttcfs	p.F255fs	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	255					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGCCCTGTTCCGGACCATCA	0.612			Mis		uveal melanoma								---	74	---	---	47	---					
PLAC4	191585	broad.mit.edu	37	21	42551272	42551272	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GJ-06A-11D-A196-08	TCGA-EE-A2GJ-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8275a021-5dc0-4304-9bf5-4b1249c4aea3	4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0	g.chr21:42551272delC	uc002yyz.3	-	0	5895	c.284delG	c.(283-285)ggafs	p.G95fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	95													Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.602													---	6	---	---	5	---