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
TMEM104	54868	broad.mit.edu	37	17	72832478	72832478	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72832478G>A	uc002jls.4	+	9	1305	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.K381K	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	381						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACAACTGGAAGACACTCTTCC	0.637000														85			54		0	0	0.014410	0	0
TRA@	6955	broad.mit.edu	37	14	22111558	22111558	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22111558G>A	uc001wbk.3	+	1	162	c.129G>A	c.(127-129)gaG>gaA	p.E43E						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		AGCCCACTGAGATGACAGCTA	0.493000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									61			19		0	0	0.007413	0	0
SYCP2L	221711	broad.mit.edu	37	6	10961628	10961628	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:10961628G>A	uc003mzo.3	+	26	2642	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	SYCP2L_uc010jow.3_Silent_p.K402K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	782						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACCTTGAGAAGGAGGTTCTGG	0.383000														53			16		0	0	0.004007	0	0
PCSK5	5125	broad.mit.edu	37	9	78973689	78973689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:78973689G>A	uc004akc.2	+	36	5972	c.5434G>A	c.(5434-5436)Gat>Aat	p.D1812N		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	629					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAGTACAGGGATCGGGACTA	0.473000														156			54		0	0	0.014410	0	0
HLA-G	3135	broad.mit.edu	37	6	29796330	29796330	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:29796330C>T	uc003nnw.2	+	3	532	c.354C>T	c.(352-354)acC>acT	p.T118T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.T90T|HLA-G_uc003raj.3_Silent_p.T123T|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	118	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GTTCTCACACCCTCCAGTGGA	0.667000														86			16		0	0	0.004007	0	0
NSUN6	221078	broad.mit.edu	37	10	18837064	18837064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:18837064G>A	uc010qcp.1	-	9	1592	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	392							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAAGGCAAGGAAATTTTGTC	0.453000														14			5		0	0	0.001168	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657585	1657585	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:1657585G>A	uc002ftk.1	+	9	1310	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	SERPINF2_uc010vqr.1_Silent_p.V347V|SERPINF2_uc021tnm.1_Silent_p.V411V	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	411			V -> M (in APLID).		acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CCTTCAGCGTGAACCGCCCCT	0.652000														50			108		0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	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	p.G362E(1)		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)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				64			38		0	0	0.008740	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23058222	23058222	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:23058222G>A	uc003xda.3	-	4	787	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	227					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGACACACTCGATGTCACTCC	0.587000														110			34		0	0	0.005524	0	0
HLA-F	3134	broad.mit.edu	37	6	29694733	29694733	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:29694733A>T	uc003nno.4	+	6	1234	c.1110A>T	c.(1108-1110)caA>caT	p.Q370H	HLA-F_uc011dlx.1_Missense_Mutation_p.Q370H|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGCTCTTCCAAGGATATTTGG	0.493000														165			40		0	0	0.007835	0	0
A1CF	29974	broad.mit.edu	37	10	52573757	52573757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:52573757C>T	uc001jjj.3	-	9	1395	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	A1CF_uc010qho.2_Missense_Mutation_p.A411T|A1CF_uc010qhn.2_Missense_Mutation_p.A403T|A1CF_uc009xov.3_Missense_Mutation_p.A395T|A1CF_uc001jji.3_Missense_Mutation_p.A395T|A1CF_uc001jjh.3_Missense_Mutation_p.A403T	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	403	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGTGTATGCCAAATAGCCA	0.483000														48			28		0	0	0.008361	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100480449	100480449	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:100480449T>C	uc003huy.3	-	1	360	c.47A>G	c.(46-48)gAc>gGc	p.D16G	RG9MTD2_uc003huz.4_Missense_Mutation_p.D16G|RG9MTD2_uc003hva.4_Missense_Mutation_p.D16G	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	16							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TTGCTTTTTGTCAACATTAGA	0.343000														44			13		0	0	0.020292	0	0
ACTA2	59	broad.mit.edu	37	10	90703574	90703574	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:90703574T>C	uc001kfp.3	-	3	465	c.349A>G	c.(349-351)Aac>Gac	p.N117D	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.N72D|ACTA2_uc001kfq.3_Missense_Mutation_p.N117D|ACTA2_uc010qmz.1_Missense_Mutation_p.N117D	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	117			N -> T (in AAT6).		response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTCTCCCGGTTGGCCTTGGGG	0.537000														27			25		0	0	0.006320	0	0
PCDH1	5097	broad.mit.edu	37	5	141236975	141236975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:141236975G>A	uc003llp.3	-	3	3278	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTGTGCTGGGATGGGTCCTG	0.622000														23			5		0	0	0.001984	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364908	30364908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:30364908G>A	uc002dxr.3	-	3	842	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	CD2BP2_uc002dxs.3_Nonsense_Mutation_p.Q197*	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	197					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TCCAGGCGCTGAGGGGAACTG	0.642000														13			11		0	0	0.010729	0	0
GCNT3	9245	broad.mit.edu	37	15	59910965	59910965	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:59910965C>T	uc002age.3	+	2	977	c.528C>T	c.(526-528)gtC>gtT	p.V176V	GCNT3_uc002agd.3_Silent_p.V176V|GCNT3_uc021smz.1_Silent_p.V176V	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	176					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGGCGGTCAAAGCAATTA	0.473000														63			30		0	0	0.006320	0	0
ZNF626	199777	broad.mit.edu	37	19	20808398	20808398	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:20808398G>A	uc002npb.1	-	3	435	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF626_uc002npc.1_Silent_p.F19F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCACTTTTTGGAAAGAATCTT	0.348000														68			16		0	0	0.006122	0	0
LCE1B	353132	broad.mit.edu	37	1	152784987	152784987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152784987C>T	uc001faq.3	+	0	541	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	22	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aagtgccctcccaagtgccTC	0.622000														100			34		0	0	0.017118	0	0
NEU2	4759	broad.mit.edu	37	2	233899687	233899687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:233899687G>A	uc010zmn.2	+	1	1063	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	355							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GTGTCTGTACGAAGCCAATGA	0.577000														163			59		0	0	0.014410	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672787	141672787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:141672787G>A	uc003vwx.1	-	0	787	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTGGGGTCACGAGAGTTTCTG	0.498000														42			26		0	0	0.021523	0	0
KIF16B	55614	broad.mit.edu	37	20	16354938	16354938	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:16354938G>C	uc002wpg.2	-	19	3473	c.3314C>G	c.(3313-3315)gCt>gGt	p.A1105G	KIF16B_uc002wpe.1_Missense_Mutation_p.A487G|KIF16B_uc002wpf.1_Missense_Mutation_p.A487G|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Missense_Mutation_p.A1105G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1105					Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGATTTTTCAGCACTGACTGG	0.473000														72			29		0	0	0.008361	0	0
EVPL	2125	broad.mit.edu	37	17	74005265	74005265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:74005265C>T	uc010wss.1	-	21	4315	c.4087G>A	c.(4087-4089)Gcc>Acc	p.A1363T	EVPL_uc002jqi.2_Missense_Mutation_p.A1341T|EVPL_uc010wst.1_Missense_Mutation_p.A811T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1341	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						CTCTTCTGGGCCGCCTCCCGC	0.677000														106			33		0	0	0.017118	0	0
ZAN	7455	broad.mit.edu	37	7	100350369	100350369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:100350369C>T	uc003uwj.3	+	13	2806	c.2641C>T	c.(2641-2643)Ccc>Tcc	p.P881S	ZAN_uc003uwk.3_Missense_Mutation_p.P881S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	881	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACTCACCATCCCCACGGAAAA	0.502000														79			39		0	0	0.021022	0	0
GPR162	27239	broad.mit.edu	37	12	6933632	6933632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:6933632G>A	uc001qqw.1	+	1	1103	c.568G>A	c.(568-570)Gga>Aga	p.G190R	GPR162_uc010sfn.1_Missense_Mutation_p.G190R|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	190						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCTACTTGGGGGAATTGTCAT	0.632000														98			24		0	0	0.005443	0	0
TCF23	150921	broad.mit.edu	37	2	27373171	27373171	+	Missense_Mutation	SNP	G	A	A	rs138845716		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:27373171G>A	uc010ylg.2	+	1	460	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	135					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCGGCCACGAGTTGCCTGG	0.642000														150			54		0	0	0.014410	0	0
STK33	65975	broad.mit.edu	37	11	8494745	8494745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:8494745G>A	uc001mgi.1	-	1	1223	c.304C>T	c.(304-306)Cct>Tct	p.P102S	STK33_uc001mgj.1_Missense_Mutation_p.P102S|STK33_uc001mgk.1_Missense_Mutation_p.P102S|STK33_uc010rbn.1_Missense_Mutation_p.P61S|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	102						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTTATGTGAGGAACTTTTCCT	0.393000														94			35		0	0	0.005524	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217490	32217490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:32217490C>T	uc011alu.2	+	22	2075	c.1873C>T	c.(1873-1875)Cca>Tca	p.P625S	DEPDC5_uc011als.2_Intron|DEPDC5_uc003als.3_Missense_Mutation_p.P625S|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Missense_Mutation_p.P625S|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Missense_Mutation_p.P65S|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	625					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGGGTAGGGCCATCCGGAGA	0.532000														103			42		0	0	0.010771	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:20033087G>A	uc002wrs.3	-	1	415	c.383C>T	c.(382-384)tCc>tTc	p.S128F	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000														58			57		0	0	0.014410	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635368	74635368	+	Missense_Mutation	SNP	C	T	T	rs6161	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:74635368C>T	uc002axt.2	-	4	1095	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CYP11A1_uc002axs.2_Missense_Mutation_p.E156K|CYP11A1_uc010bjm.1_Missense_Mutation_p.E156K|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.E94K	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.	314			E -> K (in dbSNP:rs6161).		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	p.E314K(2)		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)	TTGATGTCCTCGAAGGACATC	0.577000														118			34		0	0	0.019004	0	0
MYO9B	4650	broad.mit.edu	37	19	17267820	17267820	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:17267820T>G	uc010eak.3	+	6	1453	c.1301T>G	c.(1300-1302)gTg>gGg	p.V434G	MYO9B_uc002nfi.3_Missense_Mutation_p.V434G|MYO9B_uc002nfj.1_Missense_Mutation_p.V434G	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	434	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCACCCGAGGTGCTGGACACC	0.592000														27			10		0	0	0.008291	0	0
RNF17	56163	broad.mit.edu	37	13	25453337	25453337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:25453337G>A	uc001upr.3	+	34	4827	c.4786G>A	c.(4786-4788)Gaa>Aaa	p.E1596K	RNF17_uc010tde.2_Missense_Mutation_p.E1592K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E1535K|RNF17_uc010aac.3_Missense_Mutation_p.E788K|RNF17_uc010aad.3_Missense_Mutation_p.E606K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1596					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)		TCCAGCACCAGAACAGATAGT	0.408000														23			13		0	0	0.003163	0	0
SLFN11	91607	broad.mit.edu	37	17	33687322	33687322	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33687322G>C	uc002hjg.4	-	2	1385	c.1138C>G	c.(1138-1140)Cca>Gca	p.P380A	SLFN11_uc010ctr.3_Missense_Mutation_p.P380A|SLFN11_uc010ctp.3_Missense_Mutation_p.P380A|SLFN11_uc010ctq.3_Missense_Mutation_p.P380A|SLFN11_uc002hjh.4_Missense_Mutation_p.P380A	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	380						nucleus	ATP binding	p.P380T(2)		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)		GAGTACACTGGTCTGCTAAGG	0.393000														79			4		0	0	0.014758	0	0
PAX5	5079	broad.mit.edu	37	9	36882077	36882077	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:36882077G>A	uc003zzo.1	-	7	1384	c.936C>T	c.(934-936)ctC>ctT	p.L312L	PAX5_uc011lpt.1_Silent_p.L108L|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Silent_p.L269L|PAX5_uc010mlr.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.L269L|PAX5_uc011lqa.1_Silent_p.L204L|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Silent_p.L312L	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	312					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.L312>?(2)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGTACCCGGGGAGGGTCGTGC	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									11			8		0	0	0.006214	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232524	193232524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:193232524G>A	uc003ftd.3	-	1	305	c.197C>T	c.(196-198)tCc>tTc	p.S66F	ATP13A4_uc003fte.1_Missense_Mutation_p.S66F|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	66					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)		TTCTTGCAAGGAACATGGGAC	0.512000														105			36		0	0	0.005524	0	0
PCSK5	5125	broad.mit.edu	37	9	78911597	78911597	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:78911597G>A	uc004akc.2	+	26	3877	c.3339G>A	c.(3337-3339)agG>agA	p.R1113R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	816					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTGTGTGAGGAAATGTGGTC	0.488000														23			15		0	0	0.004990	0	0
IRF7	3665	broad.mit.edu	37	11	612716	612716	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:612716A>G	uc001lqg.3	-	8	1890	c.1480T>C	c.(1480-1482)Tgc>Cgc	p.C494R	IRF7_uc009ycb.3_Missense_Mutation_p.C375R|IRF7_uc010qwf.2_Missense_Mutation_p.C480R|IRF7_uc001lqf.3_Missense_Mutation_p.C188R|IRF7_uc010qwg.2_Missense_Mutation_p.C188R|IRF7_uc001lqh.3_Missense_Mutation_p.C481R|IRF7_uc001lqi.3_Missense_Mutation_p.C452R|IRF7_uc010qwh.2_Missense_Mutation_p.C188R	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	481					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L493L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGACAGGCAGAGGCTGAGG	0.602000														48			20		0	0	0.012319	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336638	42336638	+	Missense_Mutation	SNP	C	T	T	rs142195740		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:42336638C>T	uc002igf.4	-	8	918	c.769G>A	c.(769-771)Gag>Aag	p.E257K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E257K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	257					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCGGCAGCTCCACCGCCTCC	0.652000														31			15		0	0	0.003163	0	0
CUX1	1523	broad.mit.edu	37	7	101882657	101882657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:101882657C>T	uc003uys.4	+	22	3840	c.3713C>T	c.(3712-3714)tCt>tTt	p.S1238F	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.S1227F	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1227					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACCGCCCTCTGTCGGCACC	0.662000														24			14		0	0	0.004990	0	0
CDYL	9425	broad.mit.edu	37	6	4735069	4735069	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:4735069C>T	uc003mwi.3	+	2	308	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	59					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGCAGCCTCCCGCTTTACAGG	0.552000														53			34		0	0	0.013726	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				76			34		3.62531e-18	3.71101e-18	0.019004	1	0
PEG3	5178	broad.mit.edu	37	19	57325354	57325354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57325354C>T	uc002qnu.2	-	6	4807	c.4456G>A	c.(4456-4458)Gga>Aga	p.G1486R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1457R|PEG3_uc002qnv.2_Missense_Mutation_p.G1486R|PEG3_uc002qnw.2_Missense_Mutation_p.G1362R|PEG3_uc002qnx.2_Missense_Mutation_p.G1360R|PEG3_uc010etr.2_Missense_Mutation_p.G1486R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1486	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCAATTCCCACACCGTCA	0.502000														101			39		0	0	0.006230	0	0
SNTG2	54221	broad.mit.edu	37	2	1243537	1243537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:1243537C>T	uc002qwq.3	+	10	1006	c.877C>T	c.(877-879)Cct>Tct	p.P293S	SNTG2_uc010ewi.3_Missense_Mutation_p.P166S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	293					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)		ATGCTGCTCTCCTTCCGACCA	0.478000														16			7		0	0	0.003080	0	0
ERGIC1	57222	broad.mit.edu	37	5	172336721	172336721	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:172336721C>T	uc003mbw.4	+	3	401	c.207C>T	c.(205-207)atC>atT	p.I69I	ERGIC1_uc003mby.4_5'UTR|ERGIC1_uc011dfa.2_5'UTR|ERGIC1_uc003mbz.4_Silent_p.I24I	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	69					ER to Golgi vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGGCAAGATCGACGTCAGTC	0.522000														82			27		0	0	0.010818	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837257	12837257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12837257G>A	uc001aui.3	+	2	994	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	323										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCTAAAAGAGCTAGACCT	0.572000														110			56		0	0	0.014410	0	0
IGSF10	285313	broad.mit.edu	37	3	151166599	151166599	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:151166599C>T	uc011bod.2	-	3	1170	c.1170G>A	c.(1168-1170)agG>agA	p.R390R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	390					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAAGTGGCTCCTTTCTAGTA	0.413000														24			11		0	0	0.008291	0	0
LARS	51520	broad.mit.edu	37	5	145523002	145523002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:145523002C>T	uc003lnx.1	-	18	2088	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	LARS_uc011dbq.1_Missense_Mutation_p.G571E|LARS_uc011dbr.1_Missense_Mutation_p.G563E|LARS_uc011dbs.1_Missense_Mutation_p.G590E	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	617					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.H616Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTCTGCCTGTCCATGCAAGTT	0.418000														185			69		0	0	0.014410	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22165256	22165256	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:22165256G>A	uc003svg.3	-	24	2356	c.2043C>T	c.(2041-2043)gtC>gtT	p.V681V		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	531					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCAGGGTTCGGACAGTGTCTG	0.468000														79			35		0	0	0.005524	0	0
MYH15	22989	broad.mit.edu	37	3	108127247	108127247	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:108127247C>T	uc003dxa.1	-	32	4617	c.4560G>A	c.(4558-4560)gaG>gaA	p.E1520E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1520						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATTAGAAATCTCTTCTGGAG	0.418000														40			22		0	0	0.014323	0	0
MCTP1	79772	broad.mit.edu	37	5	94353169	94353169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:94353169C>T	uc003kkx.2	-	1	740	c.740G>A	c.(739-741)gGa>gAa	p.G247E	MCTP1_uc003kkv.2_Missense_Mutation_p.G26E|MCTP1_uc003kkw.2_Missense_Mutation_p.G26E|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	247					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATTACTGGTTCCAGCAGTGTT	0.378000														46			30		0	0	0.008361	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576105	11576105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:11576105C>T	uc001ash.4	+	5	1774	c.1636C>T	c.(1636-1638)Cac>Tac	p.H546Y	PTCHD2_uc001asi.1_Missense_Mutation_p.H546Y	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	546	SSD.				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)		CCAGGCCACCCACCTGGAAGA	0.592000														27			14		0	0	0.016723	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646705	80646705	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:80646705G>A	uc010ysh.2	+	7	1274	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	CTNNA2_uc010yse.2_Silent_p.E423E|CTNNA2_uc010ysf.2_Silent_p.E423E|CTNNA2_uc010ysg.2_Silent_p.E423E|CTNNA2_uc010ysi.2_Silent_p.E55E	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	423					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTTTCCGTGAGCATGCCAACA	0.443000														47			24		0	0	0.008361	0	0
TCHH	7062	broad.mit.edu	37	1	152085305	152085305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152085305C>T	uc009wne.1	-	2	660	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	TCHH_uc001ezp.2_Missense_Mutation_p.E130K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	130					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)			GGTTCTTCTTCCAGTTGTCTG	0.552000														236			78		0	0	0.014410	0	0
CEP89	84902	broad.mit.edu	37	19	33406264	33406264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:33406264G>A	uc002nty.3	-	13	1633	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	CEP89_uc002ntx.3_Missense_Mutation_p.S268L|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	515						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATTCACAATTGATTTATGAAC	0.393000														60			24		0	0	0.004656	0	0
MEOX1	4222	broad.mit.edu	37	17	41738450	41738450	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:41738450C>T	uc002idz.3	-	0	482	c.453G>A	c.(451-453)cgG>cgA	p.R151R	MEOX1_uc002iea.3_Silent_p.R151R|MEOX1_uc002ieb.3_Silent_p.R36R	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	151						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCTTTCTCCGCCTGGATG	0.577000														190			72		0	0	0.014410	0	0
OR13C9	286362	broad.mit.edu	37	9	107379675	107379675	+	Missense_Mutation	SNP	C	T	T	rs143297558		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:107379675C>T	uc011lvr.2	-	0	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	271					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						TCCAAGTCATCTGAATTAAGT	0.398000														76			29		0	0	0.009535	0	0
MYH4	4622	broad.mit.edu	37	17	10351428	10351428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:10351428C>T	uc002gmn.3	-	33	4783	c.4672G>A	c.(4672-4674)Gaa>Aaa	p.E1558K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1558					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						TTGCCTTCTTCATGCTCAAGA	0.333000														29			40		0	0	0.006230	0	0
RYR1	6261	broad.mit.edu	37	19	38980829	38980829	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:38980829C>T	uc002oit.3	+	35	6058	c.5928C>T	c.(5926-5928)cgC>cgT	p.R1976R	RYR1_uc002oiu.3_Silent_p.R1976R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1976	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)	AGCGGAGCCGCTATGGCCTCC	0.602000														34			11		0	0	0.013537	0	0
TTLL10	254173	broad.mit.edu	37	1	1119384	1119384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:1119384G>A	uc001acy.2	+	11	1324	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	TTLL10_uc010nyg.1_Missense_Mutation_p.M391I|TTLL10_uc001acz.2_Missense_Mutation_p.M318I	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	391	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|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;0.199)		CACCCTACATGATCTTCTTTG	0.592000														184			93		0	0	0.014410	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323347T>C	uc002ktd.1	-	2		c.112A>G								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		CCAATAAAAGTGGTGTGTGGC	0.303000														9			3		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179408103	179408103	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179408103G>A	uc021vsy.1	-	295	89118	c.88893C>T	c.(88891-88893)gtC>gtT	p.V29631V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V23326V|TTN_uc021vta.1_Silent_p.V23259V|TTN_uc021vtb.1_Silent_p.V23134V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30558	Ig-like 135.						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)			GCACTTCTGAGACCAGTACTG	0.458000														37			11		0	0	0.008291	0	0
XKR6	286046	broad.mit.edu	37	8	10756279	10756279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:10756279G>A	uc003wtk.1	-	2	1136	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	370						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)		GATCACTCGGGATGAGATGGT	0.537000														85			35		0	0	0.019004	0	0
SARDH	1757	broad.mit.edu	37	9	136597638	136597638	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:136597638C>T	uc004cep.4	-	2	551	c.417G>A	c.(415-417)gaG>gaA	p.E139E	SARDH_uc004ceo.3_Silent_p.E139E|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Silent_p.E139E	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	139					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCGTCTCCTCCTCCAGCT	0.672000														136			40		0	0	0.009718	0	0
KRT9	3857	broad.mit.edu	37	17	39726149	39726149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:39726149G>A	uc002hxe.4	-	2	910	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	282	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGCTCCTCCTGCAGAGTCTCA	0.552000														158			58		0	0	0.014410	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453084	100453084	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:100453084G>A	uc001tgq.3	-	13	2200	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	UHRF1BP1L_uc001tgp.3_Silent_p.F307F	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	657										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CATGTCTCTGGAAAATTGGAT	0.308000														15			19		0	0	0.007413	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432834	104432834	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:104432834G>A	uc004bbp.2	-	2	2461	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	GRIN3A_uc004bbq.1_Silent_p.L620L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	620					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCCTCTCAGGAGATCACCCA	0.498000														44			27		0	0	0.006320	0	0
OR51S1	119692	broad.mit.edu	37	11	4869499	4869499	+	Silent	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4869499A>G	uc010qyo.2	-	0	940	c.940T>C	c.(940-942)Ttg>Ctg	p.L314L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGCTGCAACCTGTTGAGT	0.453000														45			23		0	0	0.016522	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830321	130830321	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:130830321C>T	uc001uik.3	+	3	485	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	PIWIL1_uc001uij.2_Nonsense_Mutation_p.Q72*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	72					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGCTGGATTTCAGGAGTTATC	0.373000														25			12		0	0	0.013537	0	0
VPS13C	54832	broad.mit.edu	37	15	62207918	62207918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:62207918C>T	uc002agz.3	-	60	8450	c.8359G>A	c.(8359-8361)Gaa>Aaa	p.E2787K	VPS13C_uc002aha.3_Missense_Mutation_p.E2744K|VPS13C_uc002ahb.2_Missense_Mutation_p.E2787K|VPS13C_uc002ahc.2_Missense_Mutation_p.E2744K|VPS13C_uc002ahd.1_Missense_Mutation_p.E164K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2787					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAATATCTTCTGAACGATAC	0.393000														41			13		0	0	0.016723	0	0
COL28A1	340267	broad.mit.edu	37	7	7571504	7571504	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:7571504G>A	uc003src.1	-	2	273	c.156C>T	c.(154-156)atC>atT	p.I52I	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	52	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCTGTCCACGATGAAGACAA	0.363000														23			19		0	0	0.016522	0	0
KERA	11081	broad.mit.edu	37	12	91449444	91449444	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:91449444C>T	uc001tbl.3	-	1	1234	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	205					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GAGGCATATTCCTCAGGGCAT	0.368000														39			33		0	0	0.015359	0	0
IL7R	3575	broad.mit.edu	37	5	35876446	35876446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:35876446G>A	uc003jjs.3	+	7	1327	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	413					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTACAAACAGCACGCTGCCC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							34			16		0	0	0.003163	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896121	151896121	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:151896121G>A	uc004fgb.3	-	3		c.658C>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											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)					CCTTGCCCGGGAATTACTGGC	0.493000														7			3		0	0	0.004672	0	0
ACTN2	88	broad.mit.edu	37	1	236902833	236902833	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:236902833G>A	uc001hyf.2	+	10	1311	c.1107_splice	c.e10+1	p.S369_splice	ACTN2_uc001hyg.2_Splice_Site_p.S161_splice|ACTN2_uc009xgi.1_Splice_Site_p.S369_splice|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	369					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)			GATGGTGTCGGTGAGTAGCAA	0.582000														37			10		0	0	0.006214	0	0
AK302879	0	broad.mit.edu	37	15	76074470	76074470	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:76074470A>G	uc010umm.1	+	7	649	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000														77			10		0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168101126	168101126	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:168101126A>C	uc002udx.3	+	8	3313	c.3224A>C	c.(3223-3225)gAa>gCa	p.E1075A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E900A|XIRP2_uc010fpq.3_Missense_Mutation_p.E853A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	900					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTGGAAGAAACAGAAAGT	0.348000														15			7		0	0	0.001984	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106093514	106093514	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:106093514T>G	uc004emo.3	+	11	2262	c.2097T>G	c.(2095-2097)gaT>gaG	p.D699E	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	699						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAAGATGATGCTGAAGCTG	0.373000														28			24		0	0	0.021523	0	0
MMP20	9313	broad.mit.edu	37	11	102480670	102480670	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:102480670G>A	uc001phc.3	-	3	628	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	205					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAGCATTGTCGAAATGTGTAT	0.473000														55			14		0	0	0.007413	0	0
RASAL2	9462	broad.mit.edu	37	1	178412129	178412129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:178412129C>T	uc001glq.3	+	7	2011	c.1247C>T	c.(1246-1248)cCa>cTa	p.P416L	RASAL2_uc001glr.3_Missense_Mutation_p.P268L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	268	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGTGGTATCCAGTGAGTACA	0.418000														34			33		0	0	0.012213	0	0
SCN11A	11280	broad.mit.edu	37	3	38949448	38949448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:38949448G>A	uc021wvy.1	-	9	1664	c.1465C>T	c.(1465-1467)Caa>Taa	p.Q489*		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	489					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)	ACCTTTTTTTGGCAATCTTCA	0.383000														49			22		0	0	0.018920	0	0
FAM70B	348013	broad.mit.edu	37	13	114472075	114472075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:114472075G>A	uc001vuh.3	+	2	221	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	65						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TTTTAGCTCGGCTTTGGATCT	0.433000														59			31		0	0	0.012213	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537259	90537259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:90537259C>T	uc010mqi.3	+	3	2466	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	FAM75C1_uc004apq.4_Missense_Mutation_p.P796S|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		ACCCACAGTCCCCTTGGGAAC	0.562000														66			22		0	0	0.010818	0	0
PION	54103	broad.mit.edu	37	7	77010632	77010632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:77010632C>T	uc003ugf.3	-	7	645	c.566G>A	c.(565-567)gGa>gAa	p.G189E	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	189					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	p.G189V(2)|p.G189G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACTCTATTTCCATCTTCTTG	0.284000														27			13		0	0	0.004007	0	0
PAX4	5078	broad.mit.edu	37	7	127253841	127253841	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:127253841G>A	uc010lld.1	-	3	713	c.507C>T	c.(505-507)ttC>ttT	p.F169F	PAX4_uc003vmf.2_Silent_p.F167F|PAX4_uc003vmg.1_Silent_p.F169F|PAX4_uc003vmh.3_Silent_p.F167F	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	177					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGGGGAGAAGATAGTCC	0.612000														71			36		0	0	0.005524	0	0
EPPK1	83481	broad.mit.edu	37	8	144944041	144944041	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144944041C>T	uc003zaa.1	-	0	3394	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1127						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTCTGGACCTGCTCCTCGG	0.672000														7			6		0	0	0.003080	0	0
MYO3B	140469	broad.mit.edu	37	2	171238569	171238569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:171238569G>A	uc002ufy.3	+	9	1158	c.1015G>A	c.(1015-1017)Gct>Act	p.A339T	MYO3B_uc002ufv.3_Missense_Mutation_p.A326T|MYO3B_uc010fqb.1_Missense_Mutation_p.A339T|MYO3B_uc002ufz.3_Missense_Mutation_p.A339T|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.A326T|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	339	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTGGAAGATGCTGAAAAATA	0.363000														32			10		0	0	0.013537	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681030	176681030	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:176681030C>T	uc001gkz.3	+	11	4875	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1237					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						GCTGGTTTCCCTGTGTTGCCA	0.453000														75			22		0	0	0.014323	0	0
LNPEP	4012	broad.mit.edu	37	5	96333773	96333773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:96333773C>T	uc003kmv.1	+	7	2091	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	LNPEP_uc003kmw.1_Missense_Mutation_p.S512L	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	526					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCCTTAAATTCATCTCATCCA	0.294000														62			18		0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31571809	31571809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:31571809G>A	uc002rnv.1	-	26	3086	c.3007C>T	c.(3007-3009)Ccc>Tcc	p.P1003S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1003					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AACTTGGTGGGAATTATGCAC	0.388000														20			11		0	0	0.013537	0	0
LRFN2	57497	broad.mit.edu	37	6	40400344	40400344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:40400344C>T	uc003oph.1	-	1	974	c.509G>A	c.(508-510)cGa>cAa	p.R170Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	170						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)					GACCATGCGTCGCACGGAGTC	0.602000														79			19		0	0	0.010504	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000														37			3		0	0	0.014758	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651708	84651708	+	Missense_Mutation	SNP	G	A	A	rs146998252	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:84651708G>A	uc002bjz.4	+	20	3552	c.3328G>A	c.(3328-3330)Gga>Aga	p.G1110R	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1110R	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1110						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)			CATGGAAACCGGAGAGGTCAG	0.498000														67			22		0	0	0.012319	0	0
ZNF594	84622	broad.mit.edu	37	17	5085600	5085600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:5085600G>A	uc010cla.1	-	1	2108	c.1952C>T	c.(1951-1953)cCc>cTc	p.P651L	ZNF594_uc021tol.1_Missense_Mutation_p.P651L	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K650N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACATTCATAGGGTTTCTCTCC	0.423000														37			45		0	0	0.013114	0	0
CST1	1469	broad.mit.edu	37	20	23729758	23729758	+	Silent	SNP	C	T	T	rs146690838	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:23729758C>T	uc002wtp.3	-	1	308	c.237G>A	c.(235-237)ggG>ggA	p.G79G		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	79						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AATTCACCCCCCCAACGGTCT	0.567000														210			61		0	0	0.014410	0	0
TMEM211	255349	broad.mit.edu	37	22	25331525	25331525	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:25331525G>A	uc003abk.1	-	2	190	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	126						integral to membrane		p.I55I(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGCAAGGCCGATTGGGAAAA	0.517000														44			18		0	0	0.006122	0	0
HIP1	3092	broad.mit.edu	37	7	75174474	75174474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:75174474G>A	uc003uds.2	-	25	2617	c.2572C>T	c.(2572-2574)Cct>Tct	p.P858S	HIP1_uc011kfz.2_Missense_Mutation_p.P807S	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	858	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.P860A(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AACTCTTTAGGGGATGCTGTA	0.413000			T	PDGFRB	CMML									110			41		0	0	0.014410	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518408	7518408	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:7518408C>T	uc002mgi.3	+	6	1600	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ARHGEF18_uc010xjm.1_Silent_p.I291I|ARHGEF18_uc002mgh.3_Silent_p.I291I|ARHGEF18_uc002mgj.1_Silent_p.I92I	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	449	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCAAAGATATCATCTCACAAG	0.507000														49			29		0	0	0.009535	0	0
C9orf163	158055	broad.mit.edu	37	9	139379493	139379493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:139379493C>T	uc004chy.3	+	0	1547	c.593C>T	c.(592-594)tCc>tTc	p.S198F	SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA.	198							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		ACCCTGTGGTCCCACCGGGGT	0.607000											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			4		0	0	0.009096	0	0
HCN4	10021	broad.mit.edu	37	15	73636054	73636054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:73636054G>A	uc002avp.3	-	1	1875	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	294					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GACAATCCAGGGTGTGGTGTT	0.502000														55			17		0	0	0.004007	0	0
VPS13D	55187	broad.mit.edu	37	1	12368579	12368579	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12368579G>A	uc001atv.3	+	26	6672	c.6531G>A	c.(6529-6531)aaG>aaA	p.K2177K	VPS13D_uc001atw.3_Silent_p.K2177K|VPS13D_uc001atx.3_Silent_p.K1365K|VPS13D_uc001aty.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2177					protein localization			p.S2176L(1)		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)		AATACTCGAAGGCACCAGAGG	0.502000														130			48		0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	215848664	215848664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:215848664C>T	uc001hku.1	-	62	12976	c.12589G>A	c.(12589-12591)Gga>Aga	p.G4197R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4197	Fibronectin type-III 27.				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)		CAAGCTTTTCCCTCGAAGCAT	0.418000										HNSCC(13;0.011)				160			20		0	0	0.008871	0	0
DYM	54808	broad.mit.edu	37	18	46645158	46645158	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:46645158G>A	uc002ldi.1	-	14	2067	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	DYM_uc010xdf.1_Nonsense_Mutation_p.R378*|DYM_uc002ldj.3_Nonsense_Mutation_p.R390*	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	568						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATGAGTTCGAAATTGTTCA	0.358000														17			10		0	0	0.010729	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535728	124535728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:124535728C>T	uc004bln.3	+	11	2906	c.2837C>T	c.(2836-2838)tCc>tTc	p.S946F	DAB2IP_uc004blo.3_Missense_Mutation_p.S850F|DAB2IP_uc004blp.3_Missense_Mutation_p.S379F	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	974	Pro-rich.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCTCTTCCTCCAAGGGGGAC	0.657000														9			7		0	0	0.003080	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433453	140433453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140433453G>A	uc003lik.1	+	0	2475	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	800					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D800E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAATTCTGATAGGAATAA	0.443000														65			37		0	0	0.019004	0	0
MUC16	94025	broad.mit.edu	37	19	9059777	9059777	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9059777C>T	uc002mkp.3	-	2	27873	c.27669G>A	c.(27667-27669)ctG>ctA	p.L9223L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9225	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						TGGTCATCTCCAGTTTCTCTG	0.463000														68			28		0	0	0.006320	0	0
FZD5	7855	broad.mit.edu	37	2	208632177	208632177	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:208632177G>A	uc021vvr.1	-	0	1287	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	FZD5_uc002vcj.3_Silent_p.I429I	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	429					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGACGCTGCGGATGCGGAAGA	0.647000														30			11		0	0	0.008291	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:197404165G>A	uc001gtz.3	+	8	3381	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1058	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(2)		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						AGTGGACAACGAAACACCTTT	0.443000														112			26		0	0	0.007291	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231166	42231166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42231166C>T	uc002orl.3	+	8	2160	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	CEACAM5_uc002orj.1_Missense_Mutation_p.S679F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	680						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTGGAACTTCTCCTGGTCTC	0.498000														324			154		0	0	0.014410	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41049459	41049459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:41049459C>T	uc003jmj.4	-	13	1914	c.1424G>A	c.(1423-1425)aGa>aAa	p.R475K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R30K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	475							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						AATCAGAATTCTGATGATACT	0.478000														22			9		0	0	0.004482	0	0
ZNF18	7566	broad.mit.edu	37	17	11894356	11894356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:11894356G>A	uc002gng.1	-	4	1117	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ZNF18_uc002gnh.1_Missense_Mutation_p.S171F|ZNF18_uc002gni.1_Missense_Mutation_p.S171F	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGGCCCTGAGGATGAATTCTC	0.522000														84			153		0	0	0.014410	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120372	38120372	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:38120372C>T	uc003atr.3	+	6	2080	c.1809C>T	c.(1807-1809)gcC>gcT	p.A603A	TRIOBP_uc003atu.3_Silent_p.A431A|TRIOBP_uc003atq.1_Silent_p.A603A|TRIOBP_uc003ats.1_Silent_p.A431A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	603					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCCTGTGCCCAGCGGGACA	0.587000														227			14		0	0	0.003163	0	0
INSRR	3645	broad.mit.edu	37	1	156813996	156813996	+	Silent	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:156813996A>C	uc010pht.2	-	14	3113	c.2814T>G	c.(2812-2814)gcT>gcG	p.A938A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	938					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCAAGGGCAGCAAGAACGA	0.587000														72			16		0	0	0.006122	0	0
KLHL4	56062	broad.mit.edu	37	X	86887333	86887333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:86887333G>A	uc004efa.2	+	6	1630	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	KLHL4_uc004efb.2_Missense_Mutation_p.G483E	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	483						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCGTGGGAGGAAGAGACGGT	0.448000														17			14		0	0	0.016723	0	0
MYO18B	84700	broad.mit.edu	37	22	26242175	26242175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:26242175G>A	uc003abz.1	+	18	3727	c.3477G>A	c.(3475-3477)atG>atA	p.M1159I	MYO18B_uc003aca.1_Missense_Mutation_p.M1040I|MYO18B_uc010guy.1_Missense_Mutation_p.M1041I|MYO18B_uc010guz.1_Missense_Mutation_p.M1040I|MYO18B_uc011aka.1_Missense_Mutation_p.M313I|MYO18B_uc011akb.1_Missense_Mutation_p.M672I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1159	Myosin head-like.					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						GGAGCCGCATGGTGAGGAGGA	0.662000														31			13		0	0	0.004007	0	0
SV2C	22987	broad.mit.edu	37	5	75427754	75427754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:75427754C>T	uc003kei.1	+	1	313	c.179C>T	c.(178-180)cCg>cTg	p.P60L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	60					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.P60Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GACTACTACCCGGCTGGAGAA	0.493000														43			23		0	0	0.018920	0	0
SCAND3	114821	broad.mit.edu	37	6	28540378	28540378	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:28540378C>T	uc003nlo.3	-	3	3906	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1096					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						ctgtccaattcacatctttaa	0.363000														57			18		0	0	0.004990	0	0
MKLN1	4289	broad.mit.edu	37	7	131149126	131149126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:131149126C>T	uc011kpm.2	+	13	1811	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	MKLN1_uc011kpl.2_Missense_Mutation_p.P560S|MKLN1_uc010lmh.2_Missense_Mutation_p.P583S|MKLN1_uc003vqs.3_Missense_Mutation_p.P376S|MKLN1_uc003vqu.3_Missense_Mutation_p.P73S	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	583					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGAACCATGTCCAAGGTTTGC	0.408000														26			7		0	0	0.006214	0	0
NT5C3	51251	broad.mit.edu	37	7	33063712	33063712	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:33063712C>T	uc003tdk.3	-	2	338	c.261G>A	c.(259-261)acG>acA	p.T87T	AVL9_uc011kai.2_Intron|NT5C3_uc022abo.1_Silent_p.T36T|NT5C3_uc003tdi.3_Silent_p.T48T|NT5C3_uc003tdj.3_Silent_p.T48T	NM_001002010	NP_001159590	Q9H0P0	5NT3_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA.	87					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14			GBM - Glioblastoma multiforme(11;0.0894)			TATCAAAGTCCGTTATTATCT	0.348000														16			5		0	0	0.014758	0	0
SCRIB	23513	broad.mit.edu	37	8	144873582	144873582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144873582G>A	uc003yzp.1	-	34	4731	c.4724C>T	c.(4723-4725)tCc>tTc	p.S1575F	SCRIB_uc003yzn.1_Missense_Mutation_p.S308F|SCRIB_uc003yzo.1_Missense_Mutation_p.S1600F	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1575					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGTTCCAGGGACCTCAACTC	0.672000														12			4		0	0	0.009096	0	0
NFASC	23114	broad.mit.edu	37	1	204949559	204949559	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:204949559C>T	uc010prc.2	+	18	2468	c.939C>T	c.(937-939)atC>atT	p.I313I	NFASC_uc001hbj.3_Silent_p.I746I|NFASC_uc010pra.2_Silent_p.I742I|NFASC_uc001hbi.3_Silent_p.I742I|NFASC_uc010prb.2_Silent_p.I757I|NFASC_uc001hbk.1_Silent_p.I552I|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	746	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATGGAGATCACGTGGACGG	0.602000														13			15		0	0	0.004007	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109086	101109086	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:101109086C>T	uc003hvq.3	-	2	575	c.330G>A	c.(328-330)gtG>gtA	p.V110V		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA.	110					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTTCCAAGTTCACGTGCATAA	0.463000														38			14		0	0	0.016723	0	0
C3AR1	719	broad.mit.edu	37	12	8212250	8212250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:8212250G>A	uc001qtv.1	-	1	624	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	C3AR1_uc021quj.1_Missense_Mutation_p.L178F	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	178					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAGCTGGAGAGACCAAATTTG	0.418000														52			51		0	0	0.014410	0	0
MYO7B	4648	broad.mit.edu	37	2	128327441	128327441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:128327441C>T	uc002top.3	+	5	601	c.548C>T	c.(547-549)tCg>tTg	p.S183L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	183	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCAGCATTCGTGGATTGAG	0.632000														19			16		0	0	0.003163	0	0
BACH1	571	broad.mit.edu	37	21	30693751	30693751	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:30693751C>T	uc002ynk.3	+	1	393	c.150C>T	c.(148-150)tcC>tcT	p.S50S	BACH1_uc002ynj.3_Silent_p.S50S|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	50	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTCACCGGTCCGTGCTGGCGG	0.527000														60			19		0	0	0.010504	0	0
ZNF98	148198	broad.mit.edu	37	19	22575475	22575475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:22575475C>T	uc002nqt.2	-	3	684	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AATGACTTTTCACATTCTTTA	0.308000														6			5		0	0	0.001984	0	0
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:101946634G>A	uc001pgp.3	+	4	499	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C11orf70_uc001pgo.3_Silent_p.*100*|C11orf70_uc001pgq.3_Missense_Mutation_p.E118K	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343000														36			17		0	0	0.010504	0	0
OR51F2	119694	broad.mit.edu	37	11	4842868	4842868	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4842868C>T	uc010qyn.2	+	0	253	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCACAGACCTGAGCTTGTC	0.473000														102			42		0	0	0.006999	0	0
LTBP3	4054	broad.mit.edu	37	11	65315176	65315177	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:65315176_65315177CC>TT	uc001oej.3	-	12	2231_2232	c.1962_1963GG>AA	c.(1960-1965)gggggg>ggAAgg	p.G655R	LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Missense_Mutation_p.G85R|LTBP3_uc010roi.2_Missense_Mutation_p.G538R|LTBP3_uc001oei.3_Missense_Mutation_p.G655R|LTBP3_uc010roj.2_Missense_Mutation_p.G356R|LTBP3_uc010rok.1_Missense_Mutation_p.G566R	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	655	Cys-rich.|EGF-like 4; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACGAGCGCCCCCCGGCGCCCA	0.738000														14			9		0	0	0.004672	0	0
DMXL1	1657	broad.mit.edu	37	5	118487677	118487677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:118487677C>T	uc010jcl.1	+	18	4829	c.4648C>T	c.(4648-4650)Cat>Tat	p.H1550Y	DMXL1_uc003ksd.2_Missense_Mutation_p.H1550Y|DMXL1_uc021ycw.1_Missense_Mutation_p.H1377Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1550										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGTTCGACTCCATACCTTTCT	0.373000														58			17		0	0	0.012319	0	0
GRK4	2868	broad.mit.edu	37	4	3031062	3031062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:3031062G>A	uc003ggn.1	+	11	1650	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	GRK4_uc003ggo.1_Missense_Mutation_p.D399N|GRK4_uc003ggp.1_Missense_Mutation_p.D367N|GRK4_uc003ggq.1_Missense_Mutation_p.D367N	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	399	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAGGAGGTCGATCAAAGAAT	0.438000														30			14		0	0	0.003163	0	0
MYO5C	55930	broad.mit.edu	37	15	52498025	52498025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:52498025G>A	uc010bff.3	-	36	4687	c.4525C>T	c.(4525-4527)Caa>Taa	p.Q1509*	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1509	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATTATCGGTTGGATATTCTTT	0.284000														27			12		0	0	0.013537	0	0
CD5	921	broad.mit.edu	37	11	60886998	60886998	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:60886998G>A	uc009ynk.3	+	4	859	c.756G>A	c.(754-756)agG>agA	p.R252R		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	252	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		ATTGCTTCAGGAAAATCAAGC	0.572000														34			16		0	0	0.006122	0	0
TMEM161B	153396	broad.mit.edu	37	5	87564666	87564666	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:87564666G>A	uc003kjc.3	-	1	1	c.-124_splice	c.e1-1		TMEM161B_uc011cty.2_Splice_Site|TMEM161B_uc010jax.3_Splice_Site|TMEM161B_uc011ctz.1_Splice_Site|TMEM161B-AS1_uc003kjd.3_5'Flank|TMEM161B-AS1_uc021ybc.1_5'Flank|TMEM161B-AS1_uc021ybd.1_5'Flank|TMEM161B-AS1_uc003kje.3_5'Flank	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.							integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CGGCTCTGCCGGAAGTTGTGC	0.622000														7			4		0	0	0.009096	0	0
CSMD2	114784	broad.mit.edu	37	1	34208985	34208985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:34208985C>T	uc001bxm.1	-	13	2246	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	CSMD2_uc001bxn.1_Missense_Mutation_p.G650E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	650	Sushi 4.					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)				AAGCTGGTTTCCTGAGAAGGT	0.587000														43			31		0	0	0.009535	0	0
TFAMP1	260341	broad.mit.edu	37	7	1654682	1654682	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:1654682G>A	uc003slb.3	+	0		c.577G>A								Homo sapiens transcription factor A, mitochondrial pseudogene 1 (TFAMP1), non-coding RNA.																		ACACTGCTTGGAAAACCAAAA	0.358000														13			5		0	0	0.001984	0	0
PDE8A	5151	broad.mit.edu	37	15	85669540	85669540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:85669540C>T	uc002blh.3	+	19	2377	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S	PDE8A_uc021stv.1_Missense_Mutation_p.P658S|PDE8A_uc002bli.3_Missense_Mutation_p.P684S|PDE8A_uc010bnc.3_Missense_Mutation_p.P483S|PDE8A_uc010bnd.3_Missense_Mutation_p.P483S|PDE8A_uc002blj.3_Missense_Mutation_p.P350S|PDE8A_uc002blk.3_Missense_Mutation_p.P350S|PDE8A_uc002bll.3_Missense_Mutation_p.P82S	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	730	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGTGTCCAATCCCTGCCGACC	0.448000														57			51		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188595	140188595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140188595C>T	uc003lhi.2	+	0	1924	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S608L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S608L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTACGAGCTG	0.677000														63			22		0	0	0.014323	0	0
MICAL2	9645	broad.mit.edu	37	11	12225819	12225819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:12225819C>T	uc001mjz.3	+	3	575	c.287C>T	c.(286-288)cCc>cTc	p.P96L	MICAL2_uc010rch.1_Missense_Mutation_p.P96L|MICAL2_uc001mjy.3_Missense_Mutation_p.P96L|MICAL2_uc001mka.3_Missense_Mutation_p.P96L|MICAL2_uc010rci.2_Missense_Mutation_p.P96L|MICAL2_uc001mkb.3_Missense_Mutation_p.P96L|MICAL2_uc001mkc.3_Missense_Mutation_p.P96L	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	96						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.P96P(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGGGGAGGACCCTGTGGCTTG	0.557000														35			8		0	0	0.016723	0	0
TMTC4	84899	broad.mit.edu	37	13	101289912	101289912	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:101289912G>A	uc001vot.3	-	8	1192	c.879C>T	c.(877-879)acC>acT	p.T293T	TMTC4_uc001vou.3_Silent_p.T274T|TMTC4_uc010tja.2_Silent_p.T163T|TMTC4_uc001vov.1_Silent_p.T19T|TMTC4_uc001vow.1_Silent_p.T57T	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	274						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGTGAGCAGGGTCATTCTGA	0.607000														77			27		0	0	0.009535	0	0
DSC1	1823	broad.mit.edu	37	18	28712551	28712551	+	Missense_Mutation	SNP	C	T	T	rs147041330	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:28712551C>T	uc002kwn.3	-	13	2480	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R	DSC1_uc002kwm.3_Missense_Mutation_p.G740R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	740					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.G740G(1)		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)			TCTCCAGGTCCTTCAGTATTT	0.343000														76			18		0	0	0.008871	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784275	8784275	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:8784275G>A	uc002glt.3	-	17	2509	c.2442C>T	c.(2440-2442)ccC>ccT	p.P814P	PIK3R5_uc010vuz.2_Silent_p.P814P|PIK3R5_uc021tqc.1_Silent_p.P428P|PIK3R5_uc010cob.2_Silent_p.P428P|PIK3R5_uc010coa.2_Silent_p.P428P|PIK3R5_uc002glu.4_Silent_p.P428P	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	814					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACACAGCAAAGGGGCAGCTGT	0.567000														38			64		0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	216373145	216373145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:216373145G>A	uc001hku.1	-	16	4022	c.3635C>T	c.(3634-3636)cCa>cTa	p.P1212L	USH2A_uc001hkv.3_Missense_Mutation_p.P1212L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1212	Fibronectin type-III 2.		P -> L (in USH2A).		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.V1211F(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)		CTTGGCAAATGGAACCAGATT	0.498000										HNSCC(13;0.011)				90			39		0	0	0.007835	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001293	13001293	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	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														697			98		0	0	0.014410	0	0
FEM1A	55527	broad.mit.edu	37	19	4793311	4793311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:4793311C>T	uc002mbf.3	+	0	1584	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	482					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTGCAGCTGCCCAGGGAGCCC	0.657000														49			29		0	0	0.008361	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794283	21794283	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:21794283C>T	uc001wag.3	+	15	2661	c.2661C>T	c.(2659-2661)ggC>ggT	p.G887G	RPGRIP1_uc001wah.3_Silent_p.G529G|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Silent_p.G362G|RPGRIP1_uc010aim.3_Silent_p.G270G|RPGRIP1_uc001wal.3_Silent_p.G246G|RPGRIP1_uc001wam.3_Silent_p.G204G	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	887	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CGTATCTTGGCCGAGCCCGAG	0.483000														23			10		0	0	0.008291	0	0
NAT2	10	broad.mit.edu	37	8	18257576	18257576	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:18257576G>A	uc022asl.1	+	0	63	c.63G>A	c.(61-63)ttG>ttA	p.L21L	NAT2_uc003wyw.1_Silent_p.L21L	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	21					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.L21F(2)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AATTGGACTTGGAAACATTAA	0.398000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					83			39		0	0	0.021022	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275579	233275579	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233275579G>A	uc001hvl.2	-	19	3775	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_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.	1180						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)				AGAGTCTTTCGAACCACATTA	0.323000														13			29		0	0	0.015359	0	0
SREBF2	6721	broad.mit.edu	37	22	42269900	42269900	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:42269900G>T	uc003bbi.3	+	4	1135	c.966G>T	c.(964-966)caG>caT	p.Q322H	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.	322	Interaction with LMNA (By similarity).				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						GAGTCAAGCAGCTTGAGCCCC	0.498000														23			18		1.99824e-07	2.03346e-07	0.004990	1	0
FAM75A6	389730	broad.mit.edu	37	9	43625310	43625310	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:43625310G>T	uc011lrb.2	-	3	3406	c.3377C>A	c.(3376-3378)aCt>aAt	p.T1126N		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1126						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AAGTTGAGGAGTCCTCAATCC	0.468000														121			60		9.4237e-28	9.68082e-28	0.014410	1	0
SEPHS2	22928	broad.mit.edu	37	16	30456450	30456450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:30456450C>T	uc021tgl.1	-	0	775	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	SEPHS2_uc002dyh.1_Missense_Mutation_p.R143Q	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	200					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGCCGCATCCCGAAAGCCTTT	0.522000														76			36		0	0	0.006999	0	0
MEOX2	4223	broad.mit.edu	37	7	15666406	15666406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:15666406C>T	uc003stc.3	-	1	936	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	219					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ACTGCTATCTCGTATCGCCTC	0.418000														64			25		0	0	0.007291	0	0
PEG3	5178	broad.mit.edu	37	19	57328195	57328195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57328195C>T	uc002qnu.2	-	6	1966	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E510K|PEG3_uc002qnv.2_Missense_Mutation_p.E539K|PEG3_uc002qnw.2_Missense_Mutation_p.E415K|PEG3_uc002qnx.2_Missense_Mutation_p.E413K|PEG3_uc010etr.2_Missense_Mutation_p.E539K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	539					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCACATTCCTGATTCTTA	0.443000														98			34		0	0	0.005524	0	0
TMEM108	66000	broad.mit.edu	37	3	133098997	133098997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:133098997G>A	uc003epi.3	+	3	712	c.442G>A	c.(442-444)Ggg>Agg	p.G148R	TMEM108_uc003eph.3_Missense_Mutation_p.G148R|TMEM108_uc003epj.1_Missense_Mutation_p.G148R|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	148	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAAGCCACCGGGGGCCACCAG	0.701000														16			9		0	0	0.006214	0	0
DNAH7	56171	broad.mit.edu	37	2	196788411	196788411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:196788411G>A	uc002utj.4	-	22	3834	c.3733C>T	c.(3733-3735)Cat>Tat	p.H1245Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1245	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCTAGCATGGACATCCAGT	0.413000														40			9		0	0	0.004482	0	0
MKL1	57591	broad.mit.edu	37	22	40819553	40819553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:40819553G>A	uc003ayv.1	-	5	821	c.614C>T	c.(613-615)cCc>cTc	p.P205L	MKL1_uc010gyf.1_Intron|MKL1_uc003ayw.1_Missense_Mutation_p.P205L|MKL1_uc010gye.1_Missense_Mutation_p.P205L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	205	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AATGAGTGTGGGGGTGGACTT	0.572000			T	RBM15	acute megakaryocytic leukemia									39			15		0	0	0.003163	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	171384	171384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:171384C>T	uc003jak.2	+	13	2857	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	936	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGCTGCGGCCCGTGCAGCGT	0.687000														16			4		0	0	0.001984	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914071	39914071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:39914071G>A	uc010xuz.2	+	17	2702	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	PLEKHG2_uc010xuy.2_Missense_Mutation_p.D734N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.D571N	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	793					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.A792V(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATCCTGGAGGATTCGGATCT	0.647000														8			3		0	0	0.004672	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164380	12164380	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:12164380C>T	uc003nac.3	+	8	8022	c.7843C>T	c.(7843-7845)Ctg>Ttg	p.L2615L	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.	2615					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)				AAAAAAAGTTCTGAATCCACC	0.542000														52			20		0	0	0.012319	0	0
PXDNL	137902	broad.mit.edu	37	8	52567284	52567284	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:52567284C>T	uc003xqu.4	-	1	302	c.201G>A	c.(199-201)ggG>ggA	p.G67G		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	67					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)				TGAAGGCGCTCCCTGGAATTT	0.373000														35			16		0	0	0.004990	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427331	27427331	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:27427331G>A	uc010eyv.1	-	9	1325	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	SLC5A6_uc002rjd.3_Nonsense_Mutation_p.Q335*	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	335					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTTCTCACCTGGTCTGGGGCT	0.592000														48			14		0	0	0.020292	0	0
C10orf113	387638	broad.mit.edu	37	10	21414888	21414888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:21414888G>A	uc001iqm.3	-	1	383	c.332C>T	c.(331-333)cCa>cTa	p.P111L	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	111										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						CCAGTTGCCTGGATCTGGTTC	0.537000														44			19		0	0	0.008871	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208477	3208477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:3208477C>T	uc010zqe.2	-	19	2838	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	SLC4A11_uc002wig.3_Missense_Mutation_p.E878K|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.E862K	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	878					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TACTTGGCTTCAATGATTCGG	0.627000														40			16		0	0	0.006122	0	0
VWA3B	200403	broad.mit.edu	37	2	98914416	98914416	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:98914416C>T	uc002syo.3	+	23	3468	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.F725F|VWA3B_uc002syp.1_Silent_p.F460F|VWA3B_uc002syq.1_Silent_p.F344F|VWA3B_uc002syr.1_Silent_p.F385F|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1068										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGTGGGCTTCAGTTACGGAG	0.537000														53			25		0	0	0.004656	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101575017	101575017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:101575017C>T	uc003knm.3	-	11	2239	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	651					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCCTTTAATTCCACAATCATT	0.333000														43			22		0	0	0.014323	0	0
TRHR	7201	broad.mit.edu	37	8	110131511	110131511	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:110131511A>G	uc003ymz.4	+	1	1113	c.1024A>G	c.(1024-1026)Aca>Gca	p.T342A		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	342						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.T342K(1)|p.P341L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GCAGAAGCCAACAGAGAAACC	0.463000														88			33		0	0	0.010818	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002663	41002663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:41002663C>T	uc003opi.3	-	1	250	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	UNC5CL_uc010jxe.1_Missense_Mutation_p.E51K	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	51					signal transduction	cytoplasm|integral to membrane		p.E50*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GACACTGGTTCCTCTTGACCA	0.592000														73			22		0	0	0.014323	0	0
RANBP17	64901	broad.mit.edu	37	5	170667962	170667962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:170667962C>T	uc003mba.3	+	22	2595	c.2453C>T	c.(2452-2454)tCa>tTa	p.S818L	RANBP17_uc003mbb.3_Missense_Mutation_p.S143L|RANBP17_uc003mbd.3_Missense_Mutation_p.S181L|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	818					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)			GGGAGCCTCTCAAAAGATCAG	0.413000			T	TRD@	ALL									78			34		0	0	0.019004	0	0
KCNB1	3745	broad.mit.edu	37	20	47990100	47990100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:47990100G>A	uc002xur.1	-	1	2163	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L	KCNB1_uc002xus.1_Missense_Mutation_p.P666L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	666					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGCTTCAAAGGGTTGTTAGT	0.547000														81			23		0	0	0.018920	0	0
SLFN13	146857	broad.mit.edu	37	17	33771717	33771717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33771717G>A	uc002hjk.1	-	0	1313	c.983C>T	c.(982-984)cCc>cTc	p.P328L	SLFN13_uc010wch.1_Missense_Mutation_p.P328L|SLFN13_uc002hjl.2_Missense_Mutation_p.P328L|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Missense_Mutation_p.P10L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	328						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)		CCATGACTTGGGAGCTTCCGA	0.468000														64			28		0	0	0.007291	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323276A>T	uc002ktd.1	-	2		c.183T>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		ATCAACTGCAATTGCATTTGC	0.308000														10			3		0	0	0.003080	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145763161	145763161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:145763161G>A	uc003zds.1	-	7	3113	c.2558C>T	c.(2557-2559)aCt>aTt	p.T853I	ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zdt.1_Intron	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTTCTTCTTAGTGTTTCTTTC	0.552000														81			24		0	0	0.005443	0	0
PDCD4	27250	broad.mit.edu	37	10	112642835	112642835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:112642835C>T	uc001kzh.3	+	3	707	c.421C>T	c.(421-423)Cct>Tct	p.P141S	PDCD4_uc001kzg.3_Missense_Mutation_p.P130S|PDCD4_uc010qre.2_Missense_Mutation_p.P127S	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	141					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTGAAAGATCCTAACTATGA	0.383000														30			27		0	0	0.006320	0	0
GPR179	440435	broad.mit.edu	37	17	36483885	36483885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:36483885C>T	uc002hpz.3	-	10	5588	c.5567G>A	c.(5566-5568)gGa>gAa	p.G1856E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1856						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACGTCTTCTCCCAGGGAAGT	0.498000														102			45		0	0	0.014410	0	0
KIAA0319	9856	broad.mit.edu	37	6	24556956	24556956	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:24556956A>G	uc011djo.2	-	18	3235	c.2735_splice	c.e18-1	p.G912_splice	KIAA0319_uc011djp.2_Splice_Site_p.G867_splice|KIAA0319_uc003neh.1_Splice_Site_p.G912_splice|KIAA0319_uc011djq.1_Splice_Site_p.G903_splice|KIAA0319_uc011djr.1_Splice_Site_p.G912_splice|KIAA0319_uc010jpt.1_Splice_Site_p.G323_splice	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	912					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						TCAGAAGGCAACCTGCAAAGA	0.478000														45			8		0	0	0.004482	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454656	234454656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:234454656G>A	uc001hvy.1	+	5	1259	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	SLC35F3_uc001hwa.1_Missense_Mutation_p.G303R	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	303					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CATTCCATGGGGAAACCTTTG	0.423000														143			87		0	0	0.014410	0	0
SDK2	54549	broad.mit.edu	37	17	71433893	71433893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:71433893G>A	uc010dfm.3	-	7	985	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SDK2_uc010dfn.2_Missense_Mutation_p.P8S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	329	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCTGACAGGGGATGTCCACC	0.557000														89			20		0	0	0.014323	0	0
VAV1	7409	broad.mit.edu	37	19	6854012	6854012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:6854012G>A	uc002mfu.1	+	25	2484	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	VAV1_uc010xjh.1_Missense_Mutation_p.R764Q|VAV1_uc010dva.1_Missense_Mutation_p.R774Q|VAV1_uc002mfv.1_Missense_Mutation_p.R741Q	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	796	SH3 2.				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	p.A795T(1)		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						TTCTGCGCCCGAGACCGATCA	0.547000														102			30		0	0	0.010818	0	0
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	A	A	rs141516067		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:64749369G>A	uc001xha.1	-	1	803	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448000														26			24		0	0	0.018920	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166750	180166750	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:180166750G>A	uc003mmf.1	-	0	309	c.309C>T	c.(307-309)atC>atT	p.I103I		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTAGGTAGATGAAGAGCT	0.602000														29			12		0	0	0.013537	0	0
GCM1	8521	broad.mit.edu	37	6	52993247	52993247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:52993247C>T	uc003pbp.3	-	5	1277	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	356						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGGATTTGGCCATAATGGGG	0.488000														71			29		0	0	0.012213	0	0
AHCYL2	23382	broad.mit.edu	37	7	129064971	129064971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:129064971C>T	uc011kov.2	+	14	1760	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	AHCYL2_uc003vot.3_Missense_Mutation_p.P565L|AHCYL2_uc003vov.3_Missense_Mutation_p.P463L|AHCYL2_uc011kox.2_Missense_Mutation_p.P463L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	566					one-carbon metabolic process		adenosylhomocysteinase activity	p.P566H(2)|p.P463H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TACCTGTTGCCCAAGAAGATG	0.448000														43			24		0	0	0.016522	0	0
NXF3	56000	broad.mit.edu	37	X	102334395	102334395	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:102334395C>T	uc004eju.3	-	14	1298	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	NXF3_uc010noi.1_Silent_p.R259R	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	409	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCAGCTCCCCCCGAAGGTCTG	0.542000														50			41		0	0	0.006999	0	0
MEGF8	1954	broad.mit.edu	37	19	42860510	42860510	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42860510C>A	uc002otl.4	+	24	4961	c.4326C>A	c.(4324-4326)caC>caA	p.H1442Q	MEGF8_uc002otm.4_Missense_Mutation_p.H1050Q	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1509	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTTCCTGCACCGCCTGGGCC	0.652000														23			10		7.03913e-09	7.17163e-09	0.013537	1	0
IGSF10	285313	broad.mit.edu	37	3	151164524	151164524	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:151164524G>C	uc011bod.2	-	3	3245	c.3245C>G	c.(3244-3246)cCa>cGa	p.P1082R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1082					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P1082R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCACTTGGAAAAGACAA	0.488000														77			35		0	0	0.017118	0	0
HPR	3250	broad.mit.edu	37	16	72107798	72107798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:72107798G>A	uc002fby.3	+	1	43	c.13G>A	c.(13-15)Gga>Aga	p.G5R	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	5					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.L4L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CAGTGACCTGGGAGCTGTCAT	0.512000														100			34		0	0	0.007835	0	0
C1orf114	57821	broad.mit.edu	37	1	169390915	169390915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:169390915G>A	uc001gga.1	-	2	922	c.754C>T	c.(754-756)Cct>Tct	p.P252S	C1orf114_uc001gfz.1_Missense_Mutation_p.P252S|C1orf114_uc009wvq.1_Missense_Mutation_p.P252S|C1orf114_uc001ggb.3_Missense_Mutation_p.P252S|C1orf114_uc001ggc.1_Missense_Mutation_p.P252S	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	252										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					AACTGCTGAGGGTCATTTTCT	0.418000														66			52		0	0	0.014410	0	0
FAM47B	170062	broad.mit.edu	37	X	34961104	34961104	+	Silent	SNP	G	A	A	rs79825675	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:34961104G>A	uc004ddi.2	+	0	192	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	52								p.T52T(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TATTTGTGACGGAGGGCATGG	0.552000														28			14		0	0	0.004007	0	0
ZNF569	148266	broad.mit.edu	37	19	37904182	37904182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:37904182G>A	uc002ogj.3	-	8	2382	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y	ZNF569_uc002ogh.3_Missense_Mutation_p.H301Y|ZNF569_uc002ogi.3_Missense_Mutation_p.H460Y	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCCAGTATGAATTCTCTGG	0.358000														27			12		0	0	0.010729	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440017	150440017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:150440017G>A	uc022apw.1	+	5	1542	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E264K	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GAGGGAGAACGAGAGTAACTG	0.473000														37			18		0	0	0.010504	0	0
FAM5C	339479	broad.mit.edu	37	1	190424010	190424010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:190424010C>T	uc001gse.1	-	1	243	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	4						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)					AGCTCTGCTTCGCCATATCAT	0.463000														29			20		0	0	0.014323	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129946	35129947	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:35129946_35129947AC>TT	uc003teq.1	-	20	2345_2346	c.1238_1239GT>AA	c.(1237-1239)tgt>tAA	p.C413*	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TTCTCACAACACACCATGCCTC	0.322000														102			33		0	0	0.004672	0	0
OR9K2	441639	broad.mit.edu	37	12	55524101	55524101	+	Silent	SNP	T	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:55524101T>A	uc010spe.2	+	0	549	c.549T>A	c.(547-549)atT>atA	p.I183I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTCAGTTATTCAGACTAGCA	0.453000														35			36		0	0	0.019004	0	0
FAM83C	128876	broad.mit.edu	37	20	33875226	33875226	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:33875226G>A	uc021wck.1	-	3	1474	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.L107L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	452										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAACTGGAGGAGGGGCCGGG	0.642000														24			20		0	0	0.012319	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161734	57161734	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57161734C>T	uc001cyk.4	+	5	761	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	230	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAGGGGGTGTCTTTTATATCC	0.448000														197			86		0	0	0.014410	0	0
POTEC	388468	broad.mit.edu	37	18	14543062	14543062	+	Silent	SNP	A	G	G	rs45469106		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:14543062A>G	uc010dln.3	-	0	538	c.84T>C	c.(82-84)ttT>ttC	p.F28F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGC	0.547000														115			5		0	0	0.006214	0	0
FLNB	2317	broad.mit.edu	37	3	58139289	58139289	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:58139289G>A	uc003djj.2	+	38	6720	c.6555G>A	c.(6553-6555)gtG>gtA	p.V2185V	FLNB_uc010hne.2_Silent_p.V2216V|FLNB_uc003djk.2_Silent_p.V2174V|FLNB_uc010hnf.2_Silent_p.V2161V|FLNB_uc003djl.2_Silent_p.V2005V|FLNB_uc003djm.2_Silent_p.V1992V|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTTCACCGTGGGGCCACTTG	0.662000														28			28		0	0	0.005443	0	0
UNC80	285175	broad.mit.edu	37	2	210658531	210658531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:210658531G>A	uc010zjc.1	+	6	966	c.886G>A	c.(886-888)Gat>Aat	p.D296N	UNC80_uc021vvx.1_Missense_Mutation_p.D296N|UNC80_uc002vdj.1_Missense_Mutation_p.D296N	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	296						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AAACTCCTTTGATGGAAGTCT	0.493000														28			21		0	0	0.010504	0	0
FBXO18	84893	broad.mit.edu	37	10	5948180	5948180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:5948180C>T	uc001iit.3	+	3	595	c.491C>T	c.(490-492)tCa>tTa	p.S164L	FBXO18_uc001iir.3_Missense_Mutation_p.S39L|FBXO18_uc001iis.3_Missense_Mutation_p.S113L|FBXO18_uc009xig.3_Missense_Mutation_p.S39L	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	113	F-box.				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGCCGGGCTCACCAGGGTCT	0.602000														36			20		0	0	0.012319	0	0
OR13C5	138799	broad.mit.edu	37	9	107360783	107360783	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:107360783C>T	uc011lvp.2	-	0	912	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTACTGCCTCCTTCACATCCT	0.333000														42			15		0	0	0.003163	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									51			17		0	0	0.004007	0	0
SMURF2	64750	broad.mit.edu	37	17	62553739	62553739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:62553739G>A	uc002jep.1	-	12	1806	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	SMURF2_uc002jeq.1_Missense_Mutation_p.S232F|SMURF2_uc002jer.1_Missense_Mutation_p.S232F	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	473	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATTAACTGCAGAATCAGGATT	0.308000														60			30		0	0	0.009535	0	0
NLRP3	114548	broad.mit.edu	37	1	247587738	247587738	+	Silent	SNP	C	T	T	rs104895401		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:247587738C>T	uc001icr.3	+	4	1131	c.993C>T	c.(991-993)ctC>ctT	p.L331L	NLRP3_uc001ics.3_Silent_p.L331L|NLRP3_uc001icu.3_Silent_p.L331L|NLRP3_uc001icw.3_Silent_p.L331L|NLRP3_uc001icv.3_Silent_p.L331L|NLRP3_uc010pyw.2_Silent_p.L329L|NLRP3_uc001ict.1_Silent_p.L329L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	331	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	p.L331L(2)		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)			GAGACATTCTCCTGAGCAGCC	0.582000														102			30		0	0	0.007291	0	0
NLRP12	91662	broad.mit.edu	37	19	54327215	54327215	+	Silent	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:54327215A>G	uc002qcj.4	-	0	434	c.214T>C	c.(214-216)Ttg>Ctg	p.L72L	NLRP12_uc002qch.4_Silent_p.L72L|NLRP12_uc002qci.4_Silent_p.L72L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.L72L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	72	DAPIN.				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)		CTGAGAGCCAACCTCCAGGCC	0.617000														100			54		0	0	0.014410	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126934	40126934	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:40126934C>T	uc001cdq.1	-	5	557	c.557_splice	c.e5-1	p.G186_splice		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	186					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCTGCGATCCCTAGGCAGA	0.607000														25			9		0	0	0.006214	0	0
GPA33	10223	broad.mit.edu	37	1	167059496	167059496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:167059496C>T	uc001gea.1	-	0	373	c.29G>A	c.(28-30)tGg>tAg	p.W10*		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	10						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGAGTGTCCACAACACAGG	0.572000														43			18		0	0	0.016522	0	0
CCDC164	92749	broad.mit.edu	37	2	26677552	26677552	+	Missense_Mutation	SNP	C	T	T	rs139106371		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:26677552C>T	uc002rhg.2	+	14	2031	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	653										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						GAAGAATGTGCGTGACAACTC	0.587000														84			6		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9084779	9084779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9084779C>T	uc002mkp.3	-	0	7240	c.7036G>A	c.(7036-7038)Gaa>Aaa	p.E2346K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2346	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						ACTGTAGTTTCATTATCCAGT	0.463000														23			12		0	0	0.016723	0	0
CLTCL1	8218	broad.mit.edu	37	22	19184075	19184075	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:19184075G>A	uc021wle.1	-	24	4041	c.3966C>T	c.(3964-3966)atC>atT	p.I1322I	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Silent_p.I1322I|CLTCL1_uc011agw.1_Silent_p.I1301I|CLTCL1_uc011agt.2_Silent_p.I113I|CLTCL1_uc011agu.2_Silent_p.I113I|CLTCL1_uc010grm.1_Silent_p.I82I|CLTCL1_uc002zpd.1_Silent_p.I229I|CLTCL1_uc002zpe.2_3'UTR	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1322	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGAGTAGAGGATGGCCAGCT	0.557000			T	?	ALCL									14			8		0	0	0.004482	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300123	23300123	+	RNA	SNP	T	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:23300123T>G	uc001yvq.2	-	3		c.1382A>C			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		CTTCAAATCCTGGGCTCGAAG	0.617000														15			5		0	0	0.001168	0	0
MYPN	84665	broad.mit.edu	37	10	69926172	69926172	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:69926172C>T	uc001jnm.4	+	10	1907	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	MYPN_uc001jnl.1_Silent_p.P574P|MYPN_uc001jnn.4_Silent_p.P299P|MYPN_uc001jno.4_Silent_p.P574P|MYPN_uc009xps.3_Silent_p.P574P|MYPN_uc009xpt.3_Silent_p.P574P|MYPN_uc010qit.2_Silent_p.P280P|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	574						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AACAACCCCCCAAACCCAAAC	0.577000														17			12		0	0	0.013537	0	0
PXDNL	137902	broad.mit.edu	37	8	52387578	52387578	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:52387578G>A	uc003xqu.4	-	6	749	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	216	LRRCT.				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)				CACGCCCATGGAGTCTCCTGG	0.483000														10			5		0	0	0.014758	0	0
CD163L1	283316	broad.mit.edu	37	12	7528442	7528442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:7528442C>T	uc010sge.2	-	9	2596	c.2570G>A	c.(2569-2571)gGa>gAa	p.G857E	CD163L1_uc001qsy.3_Missense_Mutation_p.G847E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	847	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.G847V(1)		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						AAAGTGATCTCCCACAGAAAG	0.463000														84			21		0	0	0.014323	0	0
PHKA2	5256	broad.mit.edu	37	X	18936813	18936813	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:18936813C>A	uc004cyv.4	-	18	2553	c.2123G>T	c.(2122-2124)gGt>gTt	p.G708V		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	708					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AACTTCCAAACCCTTTGCTTT	0.403000														23			21		2.98393e-07	3.02941e-07	0.016522	1	0
ALPK3	57538	broad.mit.edu	37	15	85383474	85383474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:85383474G>A	uc002ble.3	+	4	1737	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	524					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAAAGATGAGGAATCCAAGCA	0.552000														50			19		0	0	0.007413	0	0
PRR23B	389151	broad.mit.edu	37	3	138738775	138738775	+	Silent	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:138738775A>T	uc003esy.1	-	0	994	c.729T>A	c.(727-729)ggT>ggA	p.G243G		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	243	Pro-rich.							p.G243S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCGTGGGGACCTGGACTCC	0.657000														27			12		0	0	0.020292	0	0
ANXA3	306	broad.mit.edu	37	4	79507487	79507487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:79507487C>T	uc003hld.3	+	5	696	c.386C>T	c.(385-387)tCt>tTt	p.S129F		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	129					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						AAGGATATCTCTCAAGCCTAT	0.383000														38			12		0	0	0.016723	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375832	93375832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:93375832G>A	uc022bjs.1	-	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F	DIRAS2_uc004aqx.1_Missense_Mutation_p.S93F	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	93					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTCCTCCAAGGACTGTCGGCT	0.582000														83			33		0	0	0.010818	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436926	72436926	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72436926C>T	uc002jkp.3	+	1	1657	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.F349F|GPRC5C_uc002jkt.3_Silent_p.F337F|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	337						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGAGCATGTTCGTGGAGAACA	0.582000														42			24		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9070263	9070263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9070263G>A	uc002mkp.3	-	2	17387	c.17183C>T	c.(17182-17184)tCt>tTt	p.S5728F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5730	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						TTCATGTCCAGAAATGGAGGT	0.498000														59			30		0	0	0.007291	0	0
POU5F1P3	642559	broad.mit.edu	37	12	8287126	8287126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:8287126C>T	uc010sgi.2	-	0	323	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CLEC4A_uc001qtz.1_Intron|CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron|POU5F1P3_uc010sgj.1_Non-coding_Transcript					Homo sapiens POU class 5 homeobox 1 pseudogene 3 (POU5F1P3), non-coding RNA.																		GAGGCCCCATCGGAGTTGCTC	0.642000														17			15		0	0	0.004007	0	0
CAPN13	92291	broad.mit.edu	37	2	30954249	30954249	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:30954249G>A	uc021vfn.1	-	19	1976	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.L644L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	648	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCCTTAGAGAGGTTGCGGA	0.557000														19			8		0	0	0.004482	0	0
UNC79	57578	broad.mit.edu	37	14	94173080	94173080	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:94173080C>T	uc001ybv.1	+	47	7356	c.7273C>T	c.(7273-7275)Cag>Tag	p.Q2425*	UNC79_uc001ybs.1_Nonsense_Mutation_p.Q2403*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2580						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						GCTTCGCCTCCAGGCTATTCA	0.587000														35			23		0	0	0.021523	0	0
MUC16	94025	broad.mit.edu	37	19	8999468	8999468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8999468C>T	uc002mkp.3	-	55	40911	c.40707G>A	c.(40705-40707)tgG>tgA	p.W13569*	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Nonsense_Mutation_p.W386*|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13571	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTCAGCTCCCAGTATAGCT	0.577000														186			62		0	0	0.014410	0	0
CD163L1	283316	broad.mit.edu	37	12	7528513	7528513	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:7528513A>T	uc010sge.2	-	9	2525	c.2499T>A	c.(2497-2499)gaT>gaA	p.D833E	CD163L1_uc001qsy.3_Missense_Mutation_p.D823E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	823	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAAGAGAGAAATCAGAATCAC	0.488000														76			10		0	0	0.013537	0	0
MGA	23269	broad.mit.edu	37	15	41961893	41961893	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:41961893C>T	uc010ucy.2	+	1	982	c.801C>T	c.(799-801)ccC>ccT	p.P267P	MGA_uc001zog.1_Silent_p.P267P|MGA_uc010ucz.2_Silent_p.P267P	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	267						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATAATAAGCCCCAGAGAGATG	0.428000														19			7		0	0	0.001984	0	0
C18orf34	374864	broad.mit.edu	37	18	30804860	30804860	+	Missense_Mutation	SNP	C	T	T	rs112779048	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:30804860C>T	uc010xbr.1	-	15	1839	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	C18orf34_uc010dme.1_Missense_Mutation_p.R80Q|C18orf34_uc002kxn.2_Missense_Mutation_p.R566Q|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.R566Q|C18orf34_uc002kxp.3_Missense_Mutation_p.R566Q	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	566										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						AAGCTCTTTCCGCTCAAGTGC	0.358000														44			20		0	0	0.016522	0	0
DSCAM	1826	broad.mit.edu	37	21	41414576	41414576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:41414576G>A	uc002yyq.1	-	31	5860	c.5408C>T	c.(5407-5409)tCc>tTc	p.S1803F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1803					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTTCTGTGGAGACCATGCT	0.542000														46			18		0	0	0.004990	0	0
CHAD	1101	broad.mit.edu	37	17	48546022	48546023	+	Missense_Mutation	DNP	CT	TA	TA	rs138853066		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:48546022_48546023CT>TA	uc010dbr.3	-	0	205_206	c.152_153AG>TA	c.(151-153)gag>gTA	p.E51V	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.E51V|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	51	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCTTGGTCTTCTCTGACACCTT	0.624000														28			9		0	0	0.004672	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077448	79077448	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:79077448C>T	uc002jzg.2	+	7	897	c.789C>T	c.(787-789)tcC>tcT	p.S263S	BAIAP2_uc002jyz.4_Silent_p.S263S|BAIAP2_uc002jza.2_Silent_p.S263S|BAIAP2_uc002jzc.2_Silent_p.S263S|BAIAP2_uc002jzb.2_Silent_p.S20S|BAIAP2_uc010wuh.1_Silent_p.S185S|BAIAP2_uc002jzd.2_Silent_p.S263S|BAIAP2_uc002jzf.2_Silent_p.S263S|BAIAP2_uc002jze.2_Silent_p.S296S|BAIAP2_uc002jzh.2_Silent_p.S264S|BAIAP2_uc010wui.2_Silent_p.S126S	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	263					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTCCAAGTCCAACCTGGTCA	0.697000														37			11		0	0	0.013537	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171375	207171375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:207171375C>T	uc002vbp.2	+	4	2373	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	708							nucleic acid binding|zinc ion binding	p.S708C(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTCTGAGTTCTGATTCTCCG	0.408000														36			18		0	0	0.006122	0	0
OR51B5	282763	broad.mit.edu	37	11	5363907	5363907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5363907G>A	uc001map.1	-	0	848	c.848C>T	c.(847-849)cCa>cTa	p.P283L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.P283L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	283					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)		ATTCATTAGTGGAGGGAACAG	0.388000														30			10		0	0	0.010729	0	0
GDPD4	220032	broad.mit.edu	37	11	76982221	76982221	+	Silent	SNP	G	A	A	rs139482139		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:76982221G>A	uc001oyf.3	-	5	605	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	118					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.I118I(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GCCAGAAAAGGATAACCATCA	0.488000														48			11		0	0	0.013537	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275374	98275374	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:98275374G>A	uc002syb.2	-	4	616	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	136						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGATGAACAGGGCCGGCACGT	0.617000														75			31		0	0	0.010818	0	0
IGFN1	91156	broad.mit.edu	37	1	201195161	201195161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:201195161G>A	uc001gwc.3	+	21	10826	c.10696G>A	c.(10696-10698)Gaa>Aaa	p.E3566K	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCCACGAATACCACTT	0.677000														40			11		0	0	0.016723	0	0
CETN1	1068	broad.mit.edu	37	18	580850	580850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:580850G>A	uc002kko.1	+	0	482	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	148	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.E148K(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GATGATCGACGAAGCTGATCG	0.537000														35			20		0	0	0.010504	0	0
RTF1	23168	broad.mit.edu	37	15	41745236	41745236	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:41745236C>T	uc001zny.3	+	2	459	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	149	Ser-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGAGCTCAGCCCCTGAGGAAG	0.517000														33			13		0	0	0.016723	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756665	49756665	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:49756665G>A	uc003cxj.3	-	0	574	c.234C>T	c.(232-234)ccC>ccT	p.P78P	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	78					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAACCAGCCGGGGCGCAGGC	0.677000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			27		0	0	0.007291	0	0
PRDM1	639	broad.mit.edu	37	6	106555230	106555230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:106555230G>A	uc003prd.2	+	6	2581	c.2347G>A	c.(2347-2349)Gga>Aga	p.G783R	PRDM1_uc003pre.3_Missense_Mutation_p.G649R	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	783					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CATGGGGAATGGACTCCTCTC	0.483000			"""D, N, Mis, F, S"""		DLBCL									25			24		0	0	0.014323	0	0
BOLL	66037	broad.mit.edu	37	2	198636606	198636606	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:198636606C>T	uc002uuu.1	-	5	850	c.471G>A	c.(469-471)gaG>gaA	p.E157E	BC021693_uc002uup.3_Non-coding_Transcript|BOLL_uc002uur.2_Silent_p.E157E|BOLL_uc002uus.2_Silent_p.E151E|BOLL_uc002uut.2_Silent_p.E163E|BOLL_uc010zha.1_Silent_p.E42E	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	151					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCGAAGTTACCTCTGGAGTAT	0.338000														25			11		0	0	0.010729	0	0
APOB	338	broad.mit.edu	37	2	21235180	21235180	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:21235180C>T	uc002red.3	-	25	4688	c.4560G>A	c.(4558-4560)ctG>ctA	p.L1520L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1520					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)	AGTTAAACCTCAGGTTGGACT	0.507000														340			129		0	0	0.014410	0	0
LARS	51520	broad.mit.edu	37	5	145519825	145519825	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:145519825C>T	uc003lnx.1	-	21	2329	c.2091_splice	c.e21-1	p.S697_splice	LARS_uc011dbq.1_Splice_Site_p.S651_splice|LARS_uc011dbr.1_Splice_Site_p.S643_splice|LARS_uc011dbs.1_Splice_Site_p.S670_splice	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	697					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCATTTGTCACTTCACAGATA	0.343000														39			7		0	0	0.001984	0	0
VPS35	55737	broad.mit.edu	37	16	46708511	46708511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:46708511C>T	uc002eef.4	-	8	1075	c.976G>A	c.(976-978)Gat>Aat	p.D326N	VPS35_uc002eed.3_Missense_Mutation_p.D147N|VPS35_uc002eee.3_Missense_Mutation_p.D287N	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	326					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GAAAATATATCAAAAAGTTTA	0.348000														16			4		0	0	0.001168	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:79650840C>T	uc002kbf.3	-	0	115	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	6							GTP binding	p.G6R(2)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000														24			11		0	0	0.013537	0	0
FOLH1	2346	broad.mit.edu	37	11	49227623	49227623	+	Silent	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:49227623A>G	uc001ngy.3	-	1	481	c.220T>C	c.(220-222)Tta>Cta	p.L74L	FOLH1_uc009yly.3_Silent_p.L59L|FOLH1_uc009ylz.3_Silent_p.L59L|FOLH1_uc001ngz.3_Silent_p.L74L|FOLH1_uc009yma.3_5'UTR|FOLH1_uc001nha.3_Silent_p.L59L	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	74					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)	ACTTACTATAAGAACTTCTTG	0.299000														47			23		0	0	0.018920	0	0
PUS7	54517	broad.mit.edu	37	7	105148566	105148566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:105148566C>T	uc010lji.3	-	0	402	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PUS7_uc003vcx.3_Missense_Mutation_p.E132K|PUS7_uc003vcy.3_Missense_Mutation_p.E132K|PUS7_uc003vcz.1_Missense_Mutation_p.E132K	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	132					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATGTACCTTTCTTTTAAGATT	0.358000														36			12		0	0	0.010729	0	0
MDGA1	266727	broad.mit.edu	37	6	37631751	37631751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:37631751G>A	uc003onu.1	-	1	1378	c.199C>T	c.(199-201)Cga>Tga	p.R67*		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	67	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.R67R(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCTGGGGTCGAGGGTGCCCT	0.602000														56			10		0	0	0.010729	0	0
SNX20	124460	broad.mit.edu	37	16	50709816	50709816	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:50709816C>T	uc002egk.2	-	2	320	c.147G>A	c.(145-147)ctG>ctA	p.L49L	SNX20_uc010vgp.1_Silent_p.L49L|SNX20_uc002egi.3_Silent_p.L49L|SNX20_uc021thz.1_Non-coding_Transcript	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	49					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGTTGGAGCTCAGGCCACTGT	0.562000														64			25		0	0	0.005443	0	0
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5080058C>T	uc010qyw.2	-	0	800	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478000														49			16		0	0	0.004990	0	0
ZNF679	168417	broad.mit.edu	37	7	63720636	63720636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:63720636C>T	uc003tsx.3	+	2	346	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F25L(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATAGAATTCTCTCTGGAGGAG	0.418000														51			25		0	0	0.016522	0	0
MAU2	23383	broad.mit.edu	37	19	19466529	19466529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:19466529C>T	uc002nmk.4	+	18	1819	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S	MAU2_uc002nml.4_Missense_Mutation_p.P199S|MAU2_uc010ecd.3_Missense_Mutation_p.P199S|MAU2_uc010ece.3_Missense_Mutation_p.P170S	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	594					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GACAGACGGTCCACCCCCCGT	0.637000														66			30		0	0	0.010818	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573874	18573874	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:18573874G>A	uc001rdt.3	+	16	2309	c.2193_splice	c.e16-1	p.S731_splice	PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.S772_splice|PIK3C2G_uc010sic.2_Splice_Site_p.S550_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	731					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)				CTGTGTATTAGTTTTCCAGAT	0.373000														41			27		0	0	0.009535	0	0
TPO	7173	broad.mit.edu	37	2	1520688	1520688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:1520688C>T	uc002qwr.3	+	14	2638	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.S851F|TPO_uc002qwx.3_Missense_Mutation_p.S794F|TPO_uc002qwu.3_Missense_Mutation_p.S794F|TPO_uc010yio.2_Missense_Mutation_p.S678F|TPO_uc010yip.2_Missense_Mutation_p.S807F|TPO_uc002qwy.1_Missense_Mutation_p.S147F|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	851					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S851F(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGGATCTCCATGTCGCTG	0.572000														38			20		0	0	0.012319	0	0
ATP8B4	79895	broad.mit.edu	37	15	50254215	50254215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:50254215C>T	uc001zxu.3	-	13	1388	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	ATP8B4_uc010ber.3_Missense_Mutation_p.E289K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E289K|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	416					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			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)		TCATGTACTTCACCTGACAAA	0.269000														19			8		0	0	0.006214	0	0
PEG10	23089	broad.mit.edu	37	7	94293524	94293524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:94293524C>T	uc003uno.3	+	1	1135	c.656C>T	c.(655-657)tCc>tTc	p.S219F	PEG10_uc011kie.2_Missense_Mutation_p.S295F|PEG10_uc022ahn.1_Missense_Mutation_p.S219F	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	219	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGAGCTCTCCCACCTCGAG	0.592000														76			35		0	0	0.006230	0	0
MFSD1	64747	broad.mit.edu	37	3	158539803	158539803	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:158539803C>T	uc003fcl.2	+	10	1178	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	MFSD1_uc011bow.2_Silent_p.S327S|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Silent_p.S220S	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	317					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTCCCATGTCCCCGGTGTTTG	0.458000														41			23		0	0	0.021523	0	0
ILF3	3609	broad.mit.edu	37	19	10790583	10790583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:10790583C>T	uc002mpn.3	+	7	1156	c.839C>T	c.(838-840)gCg>gTg	p.A280V	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.A280V|ILF3_uc002mpl.2_Missense_Mutation_p.A280V|ILF3_uc002mpk.2_Missense_Mutation_p.A280V|ILF3_uc002mpo.3_Missense_Mutation_p.A280V|ILF3_uc002mpp.3_Missense_Mutation_p.A101V	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	280	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAGTGCCTGGCGTCGGGCATC	0.627000														29			16		0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13766229	13766229	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13766229G>A	uc003jfd.2	-	58	9999	c.9957C>T	c.(9955-9957)atC>atT	p.I3319I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3319	Stalk (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)					TGATCCGCATGATGAGGTGAG	0.532000									Kartagener syndrome					110			39		0	0	0.013114	0	0
ATP4A	495	broad.mit.edu	37	19	36051759	36051759	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:36051759T>G	uc002oal.1	-	4	525	c.496A>C	c.(496-498)Acc>Ccc	p.T166P		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	166					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGATGTTGGTGCTCTTGAAT	0.567000														84			47		0	0	0.014410	0	0
SAV1	60485	broad.mit.edu	37	14	51132229	51132229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:51132229G>A	uc001wyh.1	-	1	541	c.203C>T	c.(202-204)tCa>tTa	p.S68L	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	68					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTGGTTTCTTGAAACTACATC	0.403000														21			6		0	0	0.001984	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43837663	43837663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:43837663G>A	uc010skx.2	-	15	2221	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	741	Spacer.					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)		GCTCCTGCGGGAATCTTTACA	0.373000														61			33		0	0	0.021022	0	0
EPPK1	83481	broad.mit.edu	37	8	144942134	144942134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144942134C>T	uc003zaa.1	-	0	5301	c.5288G>A	c.(5287-5289)gGa>gAa	p.G1763E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1763						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGTTTTCTCCTTTCTTTAT	0.537000														42			16		0	0	0.008871	0	0
THEMIS	387357	broad.mit.edu	37	6	128134112	128134112	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:128134112C>T	uc011ebt.2	-	3	1823	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	THEMIS_uc010kfa.3_Silent_p.P461P|THEMIS_uc021zfa.1_Silent_p.P558P|THEMIS_uc010kfb.3_Silent_p.P523P	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	558					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						AGGGGTGTTTCGGAGGGCGAG	0.483000														36			41		0	0	0.006999	0	0
TBC1D17	79735	broad.mit.edu	37	19	50390828	50390828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:50390828G>A	uc002pqo.3	+	13	1839	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	TBC1D17_uc010ybg.2_Missense_Mutation_p.E481K|TBC1D17_uc002pqp.3_Missense_Mutation_p.E165K|TBC1D17_uc002pqr.3_Missense_Mutation_p.E165K|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR|MIR4750_uc021uxz.1_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	514	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCGGCTGTGGGAGGTGGGCCA	0.647000														28			13		0	0	0.020292	0	0
FCRL4	83417	broad.mit.edu	37	1	157556241	157556241	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:157556241G>A	uc001fqw.3	-	5	988	c.852C>T	c.(850-852)atC>atT	p.I284I	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	284	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGACACAGGGATCCCTATGT	0.602000														55			43		0	0	0.010771	0	0
MRPL32	64983	broad.mit.edu	37	7	42977019	42977019	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:42977019C>T	uc003tia.3	+	2	458	c.411C>T	c.(409-411)atC>atT	p.I137I	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	137					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						CTGCAGAAATCAGACGACAGA	0.488000														25			13		0	0	0.013537	0	0
PAQR3	152559	broad.mit.edu	37	4	79851443	79851443	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:79851443A>T	uc003hlp.1	-	2	589	c.385T>A	c.(385-387)Tcc>Acc	p.S129T	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Missense_Mutation_p.S11T	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	129						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CGATGGCAGGAAAAAAGATGA	0.358000														46			13		0	0	0.004990	0	0
CR1	1378	broad.mit.edu	37	1	207789995	207789995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:207789995G>A	uc001hfy.3	+	32	5527	c.5387G>A	c.(5386-5388)gGa>gAa	p.G1796E	CR1_uc001hfx.3_Missense_Mutation_p.G2246E|CR1_uc021pij.1_Missense_Mutation_p.G1796E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1796	Sushi 28.				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						ATTCCCTATGGAAAAGAAATA	0.468000														138			78		0	0	0.014410	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621364	112621364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:112621364G>A	uc002thi.3	-	8	1187	c.940C>T	c.(940-942)Cct>Tct	p.P314S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	314					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.P314L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAAGTCACAGGGGAATCTCCT	0.493000														32			11		0	0	0.013537	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708999	96708999	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:96708999C>T	uc001kka.4	+	4	802	c.777C>T	c.(775-777)aaC>aaT	p.N259N	CYP2C9_uc009xut.3_Silent_p.N259N	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	259					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ACATGAACAACCCTCAGGACT	0.333000														21			14		0	0	0.003163	0	0
OR51F2	119694	broad.mit.edu	37	11	4842792	4842792	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4842792C>T	uc010qyn.2	+	0	177	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I59N(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCATGATCCTGTTTGTGG	0.488000														127			62		0	0	0.014410	0	0
ADD1	118	broad.mit.edu	37	4	2896428	2896428	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:2896428C>T	uc003gfq.3	+	5	899	c.711C>T	c.(709-711)gtC>gtT	p.V237V	ADD1_uc010ico.1_Silent_p.V237V|ADD1_uc003gfo.3_Silent_p.V237V|ADD1_uc003gfp.3_Silent_p.V237V|ADD1_uc003gfr.3_Silent_p.V237V|ADD1_uc003gfs.3_Silent_p.V237V|ADD1_uc003gft.3_Silent_p.V237V|ADD1_uc003gfu.3_5'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	237					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.V237I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAAGTGCGTCGTGCACATTC	0.547000														24			7		0	0	0.001984	0	0
LFNG	3955	broad.mit.edu	37	7	2565122	2565122	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:2565122A>T	uc003smf.3	+	3	673	c.656A>T	c.(655-657)cAc>cTc	p.H219L	LFNG_uc021zyw.1_Missense_Mutation_p.H148L|LFNG_uc021zyx.1_Missense_Mutation_p.H90L|LFNG_uc003smg.3_Missense_Mutation_p.H219L|MIR4648_uc021zyy.1_5'Flank	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	219					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGCTACCCGCACACGCGGGAC	0.672000														25			10		0	0	0.013537	0	0
NCOA6	23054	broad.mit.edu	37	20	33329993	33329993	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:33329993A>G	uc002xav.3	-	11	6638	c.4067T>C	c.(4066-4068)cTg>cCg	p.L1356P	NCOA6_uc002xaw.3_Missense_Mutation_p.L1356P|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.L1356P|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1356					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGAGAGGCCAGAGTAAGTTT	0.537000														50			56		0	0	0.014410	0	0
C1orf168	199920	broad.mit.edu	37	1	57257889	57257889	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57257889G>A	uc001cym.4	-	1	1003	c.597C>T	c.(595-597)caC>caT	p.H199H	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.H199H	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	199										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGGCCACCACGTGCTTCTGGG	0.478000														102			42		0	0	0.011902	0	0
IKBKE	9641	broad.mit.edu	37	1	206658624	206658624	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:206658624C>T	uc001hdz.2	+	14	2175	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	IKBKE_uc001hea.2_Nonsense_Mutation_p.Q448*|IKBKE_uc009xbv.2_Nonsense_Mutation_p.Q533*	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	533					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAGCCGGGATCAGGTACATGA	0.567000														56			10		0	0	0.016723	0	0
FIGN	55137	broad.mit.edu	37	2	164466641	164466641	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:164466641G>A	uc002uck.1	-	2	2012	c.1701C>T	c.(1699-1701)atC>atT	p.I567I		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	567						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAGAGGCATGGATAATTTTCT	0.478000														36			11		0	0	0.010729	0	0
ODZ1	10178	broad.mit.edu	37	X	123517662	123517662	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:123517662G>A	uc010nqy.3	-	29	7183	c.7119C>T	c.(7117-7119)ttC>ttT	p.F2373F	ODZ1_uc011muj.2_Silent_p.F2372F|ODZ1_uc004euj.3_Silent_p.F2366F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2366					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						ATTTAGTAAGGAAATCATAGA	0.408000														30			27		0	0	0.006320	0	0
FBN3	84467	broad.mit.edu	37	19	8206852	8206852	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8206852G>A	uc002mjf.3	-	5	728	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	237	TB 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGATATTGGGGATGAAGCCGC	0.627000														36			20		0	0	0.014323	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512202	104512202	+	Silent	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:104512202A>T	uc004elz.1	+	4	1431	c.675A>T	c.(673-675)cgA>cgT	p.R225R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	225	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGTAAGACGAACAACTGAAT	0.328000														22			11		0	0	0.008291	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:207170939C>T	uc002vbp.2	+	4	1937	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	563							nucleic acid binding|zinc ion binding	p.R563W(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438000														24			12		0	0	0.013537	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398197	77398197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:77398197C>T	uc002ffc.4	-	4	1279	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	287					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G287E(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGTGATTTTCCAGCTGATCT	0.488000														55			28		0	0	0.008361	0	0
MYO16	23026	broad.mit.edu	37	13	109707473	109707473	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:109707473G>A	uc010agk.2	+	26	3751	c.3129_splice	c.e26+1	p.R1043_splice	MYO16_uc001vqt.1_Splice_Site_p.R1021_splice|MYO16_uc001vqu.1_Splice_Site_p.R821_splice|MYO16_uc010tjh.1_Splice_Site_p.R533_splice	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1021	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCACAACTCAGGGTTAGTGAC	0.303000														29			17		0	0	0.008871	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768199	77768199	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:77768199G>A	uc003yau.2	+	9	9429	c.9042G>A	c.(9040-9042)gtG>gtA	p.V3014V	ZFHX4_uc003yaw.1_Silent_p.V2969V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2969						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCGGGGTGAAGTACTCTG	0.478000										HNSCC(33;0.089)				36			12		0	0	0.016723	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228600	57228600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:57228600C>T	uc010lyk.1	-	1	945	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SDR16C5_uc003xsy.1_Missense_Mutation_p.E103K|SDR16C5_uc010lyl.1_Missense_Mutation_p.E103K	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	103					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			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						TACACTCCTTCCTTTTGGCTG	0.448000														111			25		0	0	0.007291	0	0
KCNS2	3788	broad.mit.edu	37	8	99441498	99441498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:99441498G>A	uc003yin.3	+	1	1641	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	KCNS2_uc022azb.1_Missense_Mutation_p.D431N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	431						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCGCAGCTGTGACTTTGGAGA	0.488000														86			54		0	0	0.014410	0	0
GATM	2628	broad.mit.edu	37	15	45660331	45660331	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:45660331G>A	uc001zvc.3	-	3	941	c.612C>T	c.(610-612)ttC>ttT	p.F204F	GATM_uc001zvb.3_Silent_p.F75F|GATM_uc010uev.1_Silent_p.F257F	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	204					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CGCCACGGTGGAAGTAGTCTT	0.473000														30			11		0	0	0.013537	0	0
MOV10L1	54456	broad.mit.edu	37	22	50572967	50572967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:50572967C>T	uc003bjj.3	+	14	2061	c.1978C>T	c.(1978-1980)Cca>Tca	p.P660S	MOV10L1_uc003bjk.4_Missense_Mutation_p.P660S|MOV10L1_uc011arp.2_Missense_Mutation_p.P640S|MOV10L1_uc011arq.1_Missense_Mutation_p.P421S|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	660					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGTGTTGTTTCCAGAAGAAAT	0.368000														69			26		0	0	0.004656	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515510	24515510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:24515510C>T	uc003nef.3	+	5	909	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ALDH5A1_uc003neg.3_Missense_Mutation_p.S281F	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	281					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TCCAAAATTTCCTTTACTGGT	0.358000														46			14		0	0	0.016723	0	0
ATP9A	10079	broad.mit.edu	37	20	50287714	50287714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:50287714G>A	uc002xwg.1	-	11	1120	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	ATP9A_uc010gih.1_Missense_Mutation_p.R238C|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	374					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGCTGGAGCGAACCACGGTC	0.552000														45			22		0	0	0.014323	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310192	57310192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:57310192G>A	uc021qjh.1	+	0	79	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	26										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGATGTCAGGAGGTGGAGCC	0.582000														25			12		0	0	0.013537	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428271	54428271	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:54428271C>T	uc002iun.1	+	3	377	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	114										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACTCTTCCTTCGATGAGGCCT	0.448000														33			24		0	0	0.005443	0	0
UNC5D	137970	broad.mit.edu	37	8	35453116	35453116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:35453116C>T	uc003xjr.2	+	3	839	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	UNC5D_uc003xjs.2_Missense_Mutation_p.P166S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	171	Ig-like C2-type.				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)		AAGGGAAGTTCCCATTGAAGG	0.493000														97			31		0	0	0.017118	0	0
GJB4	127534	broad.mit.edu	37	1	35227260	35227260	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:35227260C>T	uc001bxw.4	+	0	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L	GJB4_uc001bxv.1_Silent_p.L135L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	135					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCTGAGCCTCATCTTCAAGG	0.602000														34			18		0	0	0.008871	0	0
SALL1	6299	broad.mit.edu	37	16	51175273	51175273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:51175273G>A	uc021tif.1	-	1	891	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SALL1_uc021tid.1_Missense_Mutation_p.S190F|SALL1_uc021tie.1_Missense_Mutation_p.S287F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	287					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGATAAATGGGAACTTAGCGT	0.507000														77			39		0	0	0.006230	0	0
CACNA1E	777	broad.mit.edu	37	1	181754921	181754921	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:181754921C>T	uc009wxt.3	+	42	5947	c.5752C>T	c.(5752-5754)Ctg>Ttg	p.L1918L	CACNA1E_uc001gow.3_Silent_p.L1918L|CACNA1E_uc009wxs.3_Silent_p.L1899L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1918					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCCAAAGCCCTGCCTTACCT	0.522000														172			145		0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57004345	57004345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:57004345C>T	uc001njo.3	-	0	583	c.134G>A	c.(133-135)gGc>gAc	p.G45D	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	45						integral to plasma membrane	G-protein coupled receptor activity	p.G45G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGACCGTTGCCCGTGGTGCC	0.597000														73			19		0	0	0.010504	0	0
USP29	57663	broad.mit.edu	37	19	57640569	57640569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57640569G>A	uc002qny.3	+	3	882	c.526G>A	c.(526-528)Gat>Aat	p.D176N	USP29_uc021vci.1_Missense_Mutation_p.D176N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	176					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTATCATCTGATGTACAGAC	0.353000														57			27		0	0	0.005443	0	0
GLDC	2731	broad.mit.edu	37	9	6620207	6620207	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:6620207C>T	uc003zkc.3	-	2	640	c.447G>A	c.(445-447)cgG>cgA	p.R149R		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	149					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCAGTAAGTTCCGCAAAATCG	0.443000														25			19		0	0	0.008871	0	0
XDH	7498	broad.mit.edu	37	2	31611135	31611135	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:31611135C>T	uc002rnv.1	-	6	601	c.522G>A	c.(520-522)ggG>ggA	p.G174G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	174					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTGGATTATTCCCATCTCCTC	0.443000														64			26		0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13781008	13781008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13781008C>T	uc003jfd.2	-	52	8923	c.8881G>A	c.(8881-8883)Gga>Aga	p.G2961R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2961	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)					CTCTGCTTTCCTGATCCGCCC	0.468000									Kartagener syndrome					21			9		0	0	0.004482	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197305	204197305	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:204197305C>T	uc001hau.3	-	20	3254	c.2937G>A	c.(2935-2937)caG>caA	p.Q979Q		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	979										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTCTGAGTCCTGGGGCACGT	0.627000														83			20		0	0	0.014323	0	0
DSCAM	1826	broad.mit.edu	37	21	41447132	41447132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:41447132G>A	uc002yyq.1	-	26	5172	c.4720C>T	c.(4720-4722)Cct>Tct	p.P1574S	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1574					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGAGTGGAGGAATTGTACCT	0.502000														27			11		0	0	0.013537	0	0
COL7A1	1294	broad.mit.edu	37	3	48614163	48614163	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:48614163G>A	uc003ctz.2	-	66	5647	c.5646C>T	c.(5644-5646)atC>atT	p.I1882I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1882	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGTCCAAGGATACCAGGAG	0.602000														17			3		0	0	0.009096	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:42832122C>T	uc010qey.2	-	2		c.1853G>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CAGTAAAAGGCTTTGCCACAT	0.348000														7			3		0	0	0.014758	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050753	84050753	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:84050753G>A	uc002fhg.1	-	6	945	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	315					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						ACCTCCCCAGGAAGAGCACGA	0.567000														22			16		0	0	0.007413	0	0
CBL	867	broad.mit.edu	37	11	119103163	119103163	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:119103163G>A	uc001pwe.3	+	1	339	c.201G>A	c.(199-201)gtG>gtA	p.V67V		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	67	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGCAGGTGGTGCGGTTGTGTC	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					19			16		0	0	0.004990	0	0
LOC440040	440040	broad.mit.edu	37	11	49598212	49598212	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:49598212T>C	uc010rhy.2	+	1	803	c.325T>C	c.(325-327)Tcc>Ccc	p.S109P	LOC440040_uc009ymb.3_Missense_Mutation_p.S109P					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TTCCTTCTGCTCCAAGAAGCC	0.493000														18			13		0	0	0.016723	0	0
DST	667	broad.mit.edu	37	6	56494203	56494203	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:56494203G>A	uc003pcy.4	-	17	2817	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	DST_uc021zay.1_Silent_p.F1269F|DST_uc021zax.1_Silent_p.F903F|DST_uc003pdc.4_Silent_p.F903F|DST_uc003pdd.4_Silent_p.F903F	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1229	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAAGGCATGGAATACCTGTC	0.338000														51			14		0	0	0.003163	0	0
SOX13	9580	broad.mit.edu	37	1	204093858	204093858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:204093858C>T	uc001ham.3	+	12	2060	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	SOX13_uc010pqp.2_Missense_Mutation_p.P488S|SOX13_uc010pqq.2_Missense_Mutation_p.P356S	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	489					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAGAAGTATCCTGACTACAA	0.622000														34			9		0	0	0.006214	0	0
NCOR2	9612	broad.mit.edu	37	12	124826485	124826485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:124826485G>A	uc021rga.1	-	33	5210	c.5093C>T	c.(5092-5094)aCc>aTc	p.T1698I	NCOR2_uc021rgb.1_Missense_Mutation_p.T1682I|NCOR2_uc010tbb.2_Missense_Mutation_p.T1691I|NCOR2_uc010tbc.2_Missense_Mutation_p.T1681I|NCOR2_uc021rgc.1_Missense_Mutation_p.T1681I|NCOR2_uc010tba.2_Missense_Mutation_p.T1699I|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1699					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)		CTGCTGCGAGGTGATGTAGTC	0.647000														41			28		0	0	0.013726	0	0
CNGA2	1260	broad.mit.edu	37	X	150906982	150906982	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:150906982G>A	uc004fey.1	+	1	251	c.27G>A	c.(25-27)aaG>aaA	p.K9K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	9					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTGTGAAGAGCTCCCCAG	0.517000														81			45		0	0	0.014410	0	0
FAM83F	113828	broad.mit.edu	37	22	40417711	40417711	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:40417711G>A	uc003ayk.1	+	3	1291	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	399										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGAGCCAGAAGGATGGCAGGA	0.652000														22			7		0	0	0.001984	0	0
MEGF8	1954	broad.mit.edu	37	19	42840432	42840432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42840432C>T	uc002otl.4	+	5	1813	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	393						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGGCCACTCCATGGTGTTC	0.657000														28			11		0	0	0.010729	0	0
WNK2	65268	broad.mit.edu	37	9	96031005	96031005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:96031005C>T	uc004ati.1	+	17	4010	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	WNK2_uc011lud.1_Missense_Mutation_p.S1337F|WNK2_uc004atj.3_Missense_Mutation_p.S1337F|WNK2_uc004atk.3_Missense_Mutation_p.S974F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1337					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTCTAAGCTCCCTGCCGCCA	0.627000														22			9		0	0	0.008291	0	0
T	6862	broad.mit.edu	37	6	166571956	166571956	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:166571956G>A	uc003qut.1	-	7	1444	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	T_uc003quu.1_Silent_p.P385P|T_uc003quv.1_Silent_p.P327P	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	385					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GATGGGTGAGGGGTGTGTAGT	0.711000									Chordoma, Familial Clustering of					28			19		0	0	0.010504	0	0
UBR4	23352	broad.mit.edu	37	1	19439325	19439325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:19439325C>T	uc001bbi.3	-	77	11498	c.11494G>A	c.(11494-11496)Gac>Aac	p.D3832N	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3832					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTGTAGGTCATATTCCAAC	0.463000														211			93		0	0	0.014410	0	0
LY9	4063	broad.mit.edu	37	1	160769730	160769730	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:160769730G>A	uc001fwu.3	+	1	362	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LY9_uc001fwt.3_Silent_p.L104L|LY9_uc010pjs.1_Silent_p.L104L|LY9_uc001fwv.3_Silent_p.L104L|LY9_uc001fww.3_Silent_p.L104L|LY9_uc001fwy.1_Silent_p.L6L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	104	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAAGCTACCTGGGCCGACTAG	0.448000														67			69		0	0	0.014410	0	0
ZNFX1	57169	broad.mit.edu	37	20	47881295	47881295	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:47881295G>A	uc002xui.3	-	4	2356	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	703							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTTGCGGCGGAATTCCCGCT	0.522000														128			43		0	0	0.009718	0	0
MAP1A	4130	broad.mit.edu	37	15	43820842	43820842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:43820842G>A	uc001zrt.3	+	3	7638	c.7171G>A	c.(7171-7173)Ggg>Agg	p.G2391R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2391						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)	CTGGGAACGTGGGGCCTGGCC	0.667000														13			8		0	0	0.003080	0	0
ENPP7	339221	broad.mit.edu	37	17	77709387	77709387	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:77709387C>T	uc002jxa.3	+	2	965	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	315					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGAGGCGTTCCCCGAGGCCT	0.607000														45			29		0	0	0.006320	0	0
LINC00207	388910	broad.mit.edu	37	22	44966445	44966445	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:44966445G>A	uc011aqg.2	+	2		c.235G>A			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						TGAACCAGAGGGGAACACCGT	0.502000														27			4		0	0	0.009096	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42373300	42373300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:42373300C>T	uc001zox.3	-	11	1084	c.989G>A	c.(988-990)gGa>gAa	p.G330E		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	330	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGGGCACCTCCTCCTGTGGC	0.602000														45			21		0	0	0.010504	0	0
OR1N2	138882	broad.mit.edu	37	9	125315488	125315488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:125315488G>A	uc011lyx.2	+	0	40	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14V(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CGAACTACAAGGGATGGGAAA	0.453000														69			27		0	0	0.004656	0	0
GPC6	10082	broad.mit.edu	37	13	93879743	93879743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:93879743C>T	uc001vlt.3	+	0	666	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	GPC6_uc010tig.1_Missense_Mutation_p.L12F	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	12						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATTCTTCCCCTCTTGGGGCT	0.642000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			31		0	0	0.012213	0	0
OPALIN	93377	broad.mit.edu	37	10	98109564	98109564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:98109564C>T	uc001kmj.3	-	3	531	c.92G>A	c.(91-93)gGa>gAa	p.G31E	OPALIN_uc010qor.2_Missense_Mutation_p.G21E|OPALIN_uc001kmi.3_Missense_Mutation_p.G21E|OPALIN_uc001kmk.3_Missense_Mutation_p.G8E|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	31						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGCCGCTAATCCAAGAGAGGG	0.463000														8			4		0	0	0.003080	0	0
SSPO	23145	broad.mit.edu	37	7	149474280	149474280	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:149474280C>T	uc010lpk.3	+	3	324	c.324C>T	c.(322-324)gcC>gcT	p.A108A	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	108					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCCTTGCCAAAGCCAGTC	0.622000														9			4		0	0	0.009096	0	0
RASAL1	8437	broad.mit.edu	37	12	113553068	113553068	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:113553068C>T	uc001tun.2	-	12	1305	c.1004_splice	c.e12-1	p.M335_splice	RASAL1_uc010syp.2_Splice_Site_p.M335_splice|RASAL1_uc001tul.3_Splice_Site_p.M335_splice|RASAL1_uc001tum.2_Splice_Site_p.M335_splice|RASAL1_uc010syq.2_Splice_Site_p.M335_splice|RASAL1_uc001tuo.4_Splice_Site_p.M335_splice|RASAL1_uc010syr.2_Splice_Site_p.M335_splice	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	335	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGTTGGGGTCCACTGGGAGGA	0.562000														55			40		0	0	0.009718	0	0
DHX9	1660	broad.mit.edu	37	1	182845222	182845222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:182845222C>T	uc001gpr.3	+	16	2028	c.1853C>T	c.(1852-1854)cCa>cTa	p.P618L	DHX9_uc001gps.3_Missense_Mutation_p.P404L	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	618					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAATATGGTCCAGAAACAAGG	0.388000														61			17		0	0	0.004990	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985155	64985156	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:64985155_64985156CC>TT	uc021qlg.1	+	2	668_669	c.635_636CC>TT	c.(634-636)tcc>tTT	p.S212F	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	210					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						AACTCCGTCTCCCTGGTGAGTC	0.649000														22			11		0	0	0.004672	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360938	70360938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:70360938C>T	uc003hek.4	-	0	689	c.642G>A	c.(640-642)atG>atA	p.M214I	UGT2B4_uc011cap.2_Missense_Mutation_p.M78I|UGT2B4_uc003hel.4_Missense_Mutation_p.M214I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	214					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						GCACATAGATCATATTTTTTA	0.358000														34			14		0	0	0.016723	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:143994858G>A	uc003yxk.1	-	5	967	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCAGCAAGGGAAACGCTGTC	0.632000									Familial Hyperaldosteronism type I					63			22		0	0	0.016522	0	0
LOC441455	441455	broad.mit.edu	37	9	99488637	99488637	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:99488637G>A	uc011luo.1	+	0		c.535G>A								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		GTGCCTTCCTGCACTGAAGCA	0.443000														29			9		0	0	0.004482	0	0
ADCY4	196883	broad.mit.edu	37	14	24787742	24787742	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:24787742G>A	uc001wow.3	-	24	3533	c.3114C>T	c.(3112-3114)tcC>tcT	p.S1038S	ADCY4_uc010toh.2_Silent_p.S724S|ADCY4_uc001wox.3_Silent_p.S1038S|ADCY4_uc001woy.3_Silent_p.S1038S	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1038					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTAGCCCAGGGACTGTAGGG	0.577000														51			20		0	0	0.014323	0	0
OR4X1	390113	broad.mit.edu	37	11	48285898	48285898	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:48285898C>T	uc010rht.2	+	0	486	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCCTGATTTTCCAGCTCCCGT	0.562000														36			11		0	0	0.010729	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378643	31378643	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:31378643C>T	uc003tch.3	-	1	593	c.240G>A	c.(238-240)agG>agA	p.R80R	NEUROD6_uc022abi.1_Silent_p.R80R	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	80					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L79I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCTTTTTTTTCCTAAGACCCC	0.517000														132			45		0	0	0.014410	0	0
ZNF749	388567	broad.mit.edu	37	19	57956182	57956182	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57956182T>C	uc002qoq.2	+	2	1920	c.1666T>C	c.(1666-1668)Tat>Cat	p.Y556H		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	556					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)		GCCAAGGCCTTATGTGTGTAG	0.453000														47			24		0	0	0.014323	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	T	T	rs150927973		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:120337285C>T	uc001eig.3	-	6	873	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_uc001eif.3_Missense_Mutation_p.E145K	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	145	C-type lectin.					extracellular region	sugar binding	p.E145K(4)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000														372			170		0	0	0.014410	0	0
COL7A1	1294	broad.mit.edu	37	3	48621382	48621382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:48621382G>A	uc003ctz.2	-	37	4230	c.4229C>T	c.(4228-4230)cCc>cTc	p.P1410L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1410	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGTCCAGGGGGACCCTGGGA	0.647000														31			21		0	0	0.012319	0	0
ZNF883	169834	broad.mit.edu	37	9	115760190	115760190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:115760190C>T	uc011lwy.2	-	4	1589	c.350G>A	c.(349-351)aGa>aAa	p.R117K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTATGGATTCTCTCATGATT	0.383000														32			14		0	0	0.016723	0	0
MCF2	4168	broad.mit.edu	37	X	138670580	138670580	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:138670580C>T	uc011mwn.1	-	23	2829	c.2823G>A	c.(2821-2823)gtG>gtA	p.V941V	MCF2_uc004fav.3_Silent_p.V812V|MCF2_uc004fau.3_Silent_p.V796V|MCF2_uc010nsh.2_Silent_p.V796V|MCF2_uc011mwm.2_Silent_p.V757V|MCF2_uc011mwl.2_Silent_p.V773V|MCF2_uc011mwo.1_Silent_p.V872V|MCF2_uc004faw.2_Silent_p.V856V	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	796					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACGTCATCTTCACATCTACAT	0.333000														28			17		0	0	0.007413	0	0
VPS13D	55187	broad.mit.edu	37	1	12337566	12337566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12337566G>A	uc001atv.3	+	18	4062	c.3921G>A	c.(3919-3921)atG>atA	p.M1307I	VPS13D_uc001atw.3_Missense_Mutation_p.M1307I|VPS13D_uc001atx.3_Missense_Mutation_p.M495I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1307					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)		CGTTATCCATGGATGAACTGG	0.418000														54			28		0	0	0.007291	0	0
ZNF662	389114	broad.mit.edu	37	3	42956832	42956832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:42956832C>T	uc003cmk.2	+	3	1531	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	ZNF662_uc003cmi.2_Missense_Mutation_p.L423F|ZNF662_uc003cmj.2_Missense_Mutation_p.L315F	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GATCTCTCACCTTCTTGAACA	0.408000														28			11		0	0	0.008291	0	0
NLRP5	126206	broad.mit.edu	37	19	56515201	56515201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:56515201C>T	uc002qmj.3	+	1	182	c.182C>T	c.(181-183)tCc>tTc	p.S61F	NLRP5_uc002qmi.3_Missense_Mutation_p.S61F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	61	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCTTTTCCAGCTACGGG	0.433000														86			29		0	0	0.009535	0	0
PID1	55022	broad.mit.edu	37	2	229890744	229890744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:229890744C>T	uc002vpr.4	-	2	395	c.357G>A	c.(355-357)tgG>tgA	p.W119*	PID1_uc002vps.4_Nonsense_Mutation_p.W117*|PID1_uc002vpt.4_Nonsense_Mutation_p.W86*|PID1_uc002vpu.4_Nonsense_Mutation_p.W37*	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	119	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGCTTCTTCCAGAGCTCAA	0.537000														53			15		0	0	0.004990	0	0
INPP5D	3635	broad.mit.edu	37	2	234078703	234078703	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:234078703T>C	uc010zmo.2	+	13	1750	c.1597T>C	c.(1597-1599)Ttc>Ctc	p.F533L	INPP5D_uc010zmp.2_Missense_Mutation_p.F532L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	562					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CATTCTCCGGTTCCTGGCCCT	0.532000														109			37		0	0	0.010771	0	0
FBLN2	2199	broad.mit.edu	37	3	13660447	13660447	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:13660447G>A	uc011avc.2	+	6	2365	c.1983G>A	c.(1981-1983)ctG>ctA	p.L661L	FBLN2_uc011auz.2_Silent_p.L687L|FBLN2_uc011avb.2_Silent_p.L661L|FBLN2_uc011ava.2_Silent_p.L661L	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	661						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCTGCACTGAAGTCAGAAT	0.602000														18			8		0	0	0.008291	0	0
PXK	54899	broad.mit.edu	37	3	58395265	58395265	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:58395265C>T	uc003djz.1	+	14	1414	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	PXK_uc003djx.1_Nonsense_Mutation_p.Q439*|PXK_uc003dka.1_Nonsense_Mutation_p.Q439*|PXK_uc003dkb.1_Nonsense_Mutation_p.Q356*|PXK_uc003dkc.1_Nonsense_Mutation_p.Q422*|PXK_uc011bfe.1_Nonsense_Mutation_p.Q406*|PXK_uc010hnj.1_Nonsense_Mutation_p.Q406*|PXK_uc003dkd.1_Nonsense_Mutation_p.Q302*|PXK_uc010hnk.1_Nonsense_Mutation_p.Q213*	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	439	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAAGATTCACCAGCATCGAAG	0.403000														18			6		0	0	0.003080	0	0
GPR142	350383	broad.mit.edu	37	17	72368061	72368061	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72368061G>A	uc021ucp.1	+	3	711	c.702G>A	c.(700-702)ctG>ctA	p.L234L	GPR142_uc010wqy.2_Silent_p.L237L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	237						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAACATCCTGGAGTTTGCTG	0.657000														26			9		0	0	0.006214	0	0
TRIM26	7726	broad.mit.edu	37	6	30153703	30153703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:30153703G>A	uc003npr.3	-	8	1779	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	TRIM26_uc003nps.3_Missense_Mutation_p.P524S|TRIM26_uc003npt.3_Missense_Mutation_p.P524S|TRIM26_uc010jry.3_Missense_Mutation_p.P254S	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	524	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CACAGGAAGGGGACCAGGCGC	0.592000														46			10		0	0	0.008291	0	0
OGDHL	55753	broad.mit.edu	37	10	50944552	50944552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:50944552G>A	uc009xog.3	-	19	2720	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	OGDHL_uc001jie.3_Missense_Mutation_p.R869W|OGDHL_uc010qgt.2_Missense_Mutation_p.R812W|OGDHL_uc010qgu.2_Missense_Mutation_p.R660W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	869					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGAATCACCCGCTGGAAGCTG	0.642000														25			17		0	0	0.006122	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766536	41766536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:41766536G>A	uc001uxw.1	-	0	2167	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	620							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGCAGGAAGGATAAACACGA	0.428000														54			24		0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9083416	9083416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9083416C>T	uc002mkp.3	-	0	8603	c.8399G>A	c.(8398-8400)gGa>gAa	p.G2800E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2800	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						ACTTCTGATTCCTCCAGAGCT	0.507000														15			10		0	0	0.006214	0	0
TIAM1	7074	broad.mit.edu	37	21	32496914	32496914	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:32496914G>T	uc002yow.1	-	27	4704	c.4232C>A	c.(4231-4233)tCc>tAc	p.S1411Y	TIAM1_uc011adk.1_Missense_Mutation_p.S1411Y|TIAM1_uc011adl.1_Missense_Mutation_p.S1351Y	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATATTGCTGGGATGAGGGAAG	0.542000														44			14		4.3838e-07	4.4402e-07	0.016723	1	0
IFNAR2	3455	broad.mit.edu	37	21	34668534	34668535	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:34668534_34668535CC>TT	uc002yrl.1	+	5	1267_1268	c.856_857CC>TT	c.(856-858)cca>TTa	p.P286L	IFNAR2_uc002yrk.1_Missense_Mutation_p.P284L	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTCTCCTTTCCATTGTCGGAT	0.450000														118			32		0	0	0.004672	0	0
DSG4	147409	broad.mit.edu	37	18	28970705	28970705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:28970705G>A	uc002kwr.2	+	5	739	c.604G>A	c.(604-606)Gag>Aag	p.E202K	DSG4_uc002kwq.2_Missense_Mutation_p.E202K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	202	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGTCTCTCAGGAGCCATCAGG	0.408000														27			9		0	0	0.010729	0	0
NDRG4	65009	broad.mit.edu	37	16	58538174	58538174	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:58538174C>T	uc002enm.3	+	4	741	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	NDRG4_uc002enk.3_Nonsense_Mutation_p.Q114*|NDRG4_uc010vif.2_Nonsense_Mutation_p.Q114*|NDRG4_uc002eno.3_Nonsense_Mutation_p.Q82*|NDRG4_uc010cdk.3_Nonsense_Mutation_p.Q100*|NDRG4_uc010vig.2_Nonsense_Mutation_p.Q112*|NDRG4_uc010vih.2_Nonsense_Mutation_p.Q27*|NDRG4_uc010vii.2_Nonsense_Mutation_p.Q100*|NDRG4_uc002enp.3_Nonsense_Mutation_p.Q82*|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	82					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCAGTTTCCTCAGGGGTAGGT	0.612000														88			42		0	0	0.008740	0	0
FCGBP	8857	broad.mit.edu	37	19	40411717	40411717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:40411717C>T	uc002omp.4	-	6	3919	c.3911G>A	c.(3910-3912)cGa>cAa	p.R1304Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1304	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACTGACTCGCCCATTACC	0.627000														82			28		0	0	0.017118	0	0
TMEM53	79639	broad.mit.edu	37	1	45120814	45120814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:45120814G>A	uc001cmc.3	-	2	287	c.251C>T	c.(250-252)cCt>cTt	p.P84L	TMEM53_uc001cmd.3_Missense_Mutation_p.P11L|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	Homo sapiens transmembrane protein 53 (TMEM53), mRNA.	84						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTGAAGGGATACCCAG	0.552000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			20		0	0	0.008871	0	0
NEK2	4751	broad.mit.edu	37	1	211846988	211846988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:211846988C>T	uc001hir.2	-	2	543	c.392G>A	c.(391-393)aGt>aAt	p.S131N	NEK2_uc021piq.1_Missense_Mutation_p.S131N|NEK2_uc001his.4_Missense_Mutation_p.S131N|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	131	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ACCACCATCACTTCGTCTGTG	0.458000														112			28		0	0	0.007291	0	0
TINAG	27283	broad.mit.edu	37	6	54173504	54173504	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:54173504C>T	uc003pcj.2	+	0	302	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TINAG_uc003pci.3_Silent_p.F52F|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	52					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.F52F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCCATTTTCCAAGGGCAAT	0.423000														93			47		0	0	0.014410	0	0
TLR4	7099	broad.mit.edu	37	9	120466753	120466753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:120466753G>A	uc004bjz.3	+	0	294	c.3G>A	c.(1-3)atG>atA	p.M1I	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	1					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATGCCAGGATGATGTCTGCCT	0.602000														32			10		0	0	0.008291	0	0
BPGM	669	broad.mit.edu	37	7	134346748	134346748	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:134346748G>A	uc003vrv.3	+	2	1030	c.489G>A	c.(487-489)gaG>gaA	p.E163E	BPGM_uc003vrw.3_Silent_p.E163E	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	163					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						ATGTTCTGGAGAGACTCCTTC	0.453000														56			16		0	0	0.004990	0	0
OR10G3	26533	broad.mit.edu	37	14	22038755	22038755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22038755C>T	uc010tmb.2	-	0	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGCAGGTTTCCCAGCTGAGTC	0.448000														22			12		0	0	0.010729	0	0
LAD1	3898	broad.mit.edu	37	1	201353961	201353961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:201353961C>T	uc001gwm.3	-	4	1369	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	LAD1_uc009wzu.1_Missense_Mutation_p.M400I	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	378						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTTGGGTTTCATCTGAAATG	0.527000														64			66		0	0	0.014410	0	0
TDRD6	221400	broad.mit.edu	37	6	46660361	46660361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:46660361C>T	uc003oyj.3	+	0	4750	c.4496C>T	c.(4495-4497)tCt>tTt	p.S1499F	TDRD6_uc010jze.3_Missense_Mutation_p.S1499F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1499					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)			AGTTCAAAGTCTGTTAACAAA	0.358000														48			15		0	0	0.003163	0	0
C7orf58	79974	broad.mit.edu	37	7	120776102	120776102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:120776102C>T	uc003vjq.4	+	13	2104	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S	C7orf58_uc003vjr.1_Missense_Mutation_p.P553S|C7orf58_uc003vjs.4_Missense_Mutation_p.P553S|C7orf58_uc003vjt.4_Missense_Mutation_p.P333S|C7orf58_uc010lkk.2_Missense_Mutation_p.P333S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	553						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					aGCTGCAGTTCCACAAATTAA	0.244000														26			5		0	0	0.003080	0	0
SACS	26278	broad.mit.edu	37	13	23912862	23912862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:23912862G>A	uc001uon.2	-	9	5742	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F	SACS_uc001uoo.2_Missense_Mutation_p.S1571F|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.	1718					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)		GGAAGAGCAGGATTTTTTTTT	0.358000														34			8		0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40710567	40710567	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:40710567G>A	uc002xkg.3	-	29	4411	c.4227C>T	c.(4225-4227)atC>atT	p.I1409I	PTPRT_uc010ggj.3_Silent_p.I1428I|PTPRT_uc010ggi.3_Silent_p.I612I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1409	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.G1408*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGTTTTCACGATGTGGAACA	0.502000														82			31		0	0	0.013726	0	0
GPR124	25960	broad.mit.edu	37	8	37692876	37692876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:37692876C>T	uc003xkj.3	+	11	2179	c.1793C>T	c.(1792-1794)aCc>aTc	p.T598I	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	598					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGCTGCACCACCGGGAGGCCC	0.687000														23			9		0	0	0.008291	0	0
KLHL4	56062	broad.mit.edu	37	X	86887330	86887330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:86887330G>A	uc004efa.2	+	6	1627	c.1445G>A	c.(1444-1446)gGa>gAa	p.G482E	KLHL4_uc004efb.2_Missense_Mutation_p.G482E	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	482						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.V481M(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATGTCGTGGGAGGAAGAGAC	0.448000														17			12		0	0	0.010729	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563237	129563237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:129563237C>T	uc009zyl.1	-	7	2285	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	TMEM132D_uc001uia.2_Missense_Mutation_p.E191K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	653						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)		ATGGTCTTTTCAGCGAGGATG	0.572000														37			28		0	0	0.008361	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013703	99013703	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:99013703G>A	uc004awa.1	-	4	498	c.450C>T	c.(448-450)atC>atT	p.I150I	HSD17B3_uc010msc.1_Silent_p.I150I	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	150					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGTCTACCTGGATTTCATCCG	0.488000														20			12		0	0	0.003163	0	0
FADS6	283985	broad.mit.edu	37	17	72877225	72877225	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72877225G>A	uc002jmd.1	-	3	711	c.699C>T	c.(697-699)caC>caT	p.H233H	FADS6_uc010wrn.1_Intron	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	239					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GGAGGTAGGGGTGGGCCAACA	0.607000														17			18		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179603068	179603068	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179603068C>T	uc021vsy.1	-	45	10605	c.10380G>A	c.(10378-10380)agG>agA	p.R3460R	TTN_uc021vsz.1_Silent_p.R4533R|TTN_uc021vta.1_Silent_p.R4466R|TTN_uc021vtb.1_Silent_p.R4341R|TTN_uc002umz.1_Silent_p.R121R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4387							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)			GTTCGATTTTCCTCTTGATCA	0.468000														22			10		0	0	0.006214	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985455	140985455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:140985455C>T	uc011mwp.2	+	7	1769	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	MAGEC3_uc004fbs.3_Silent_p.I339I|MAGEC3_uc010nsj.3_Silent_p.I339I|MAGEC3_uc022cfh.1_Silent_p.I339I	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	590	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTTTTATCCAAGCTATCC	0.478000														44			36		0	0	0.021022	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573445	27573445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:27573445G>A	uc001rht.2	+	16	2110	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	ARNTL2_uc001rhu.2_Missense_Mutation_p.D617N|ARNTL2_uc001rhv.2_Missense_Mutation_p.D583N|ARNTL2_uc001rhw.3_Missense_Mutation_p.D594N|ARNTL2_uc010sjp.2_3'UTR|ARNTL2_uc009zji.2_Missense_Mutation_p.D597N|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	631					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGACTTCAGTGACATCCAGTG	0.418000														47			61		0	0	0.014410	0	0
OR10H5	284433	broad.mit.edu	37	19	15905786	15905786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:15905786C>T	uc010xos.2	+	0	928	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTTCACCAAACTCTTTCCACA	0.478000														24			9		0	0	0.004482	0	0
CD48	962	broad.mit.edu	37	1	160648920	160648920	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:160648920G>A	uc001fwn.3	-	4	685	c.653_splice	c.e4-1	p.A218_splice		NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	218					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAAAGGACCGGGCTGAAAGAG	0.468000														76			23		0	0	0.004656	0	0
PTPRF	5792	broad.mit.edu	37	1	44056778	44056778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:44056778C>T	uc001cjr.3	+	8	1425	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	PTPRF_uc001cjs.3_Missense_Mutation_p.P362L|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	362	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAGGGCCCCTTTCAGGAG	0.622000														69			35		0	0	0.005524	0	0
LAMC2	3918	broad.mit.edu	37	1	183204779	183204779	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:183204779C>T	uc001gqa.2	+	15	2684	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	LAMC2_uc001gpz.4_Silent_p.L790L|LAMC2_uc010poa.2_Silent_p.L490L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	790	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AACAAGCCCTCTCACTGGTGC	0.517000											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			19		0	0	0.014323	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664527	50664527	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:50664527T>C	uc003bkb.1	-	8	2297	c.1785A>G	c.(1783-1785)atA>atG	p.I595M	TUBGCP6_uc010har.1_Missense_Mutation_p.I595M|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	595					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCAGACGTATATGTCGTGGG	0.557000														149			52		0	0	0.014410	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769665	112769665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:112769665G>A	uc003kqm.2	-	0	1064	c.872C>T	c.(871-873)tCc>tTc	p.S291F	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGTTCCCCGGGAACTCTCCCC	0.632000														26			16		0	0	0.004990	0	0
OR4K13	390433	broad.mit.edu	37	14	20502527	20502527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20502527G>A	uc010tkz.2	-	0	391	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	131					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)		GTCATGTAATGGAGGGGTTTG	0.468000														69			28		0	0	0.005443	0	0
MFN2	9927	broad.mit.edu	37	1	12066609	12066609	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12066609C>T	uc001atn.4	+	15	2184	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	MFN2_uc009vni.3_Silent_p.I577I	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	577					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCGTCCCATCCCTCTGACGC	0.597000														51			11		0	0	0.013537	0	0
ACTA1	58	broad.mit.edu	37	1	229568416	229568416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:229568416G>A	uc001htm.3	-	2	446	c.341C>T	c.(340-342)cCc>cTc	p.P114L		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	114					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GTTGGCCTTGGGATTGAGGGG	0.612000														160			51		0	0	0.014410	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656889	45656889	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:45656889G>A	uc010gpp.1	-	2	401	c.267C>T	c.(265-267)gcC>gcT	p.A89A	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.A89A|ICOSLG_uc011afc.2_5'UTR	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	89	Ig-like V-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCAGCATGCCGGCCGGTGACA	0.602000														55			21		0	0	0.016522	0	0
TGM3	7053	broad.mit.edu	37	20	2308917	2308917	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:2308917C>T	uc002wfx.4	+	8	1336	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	413					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGAAGAATTCCGTGAACAGTC	0.537000														74			15		0	0	0.003163	0	0
FAT3	120114	broad.mit.edu	37	11	92087445	92087445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:92087445C>T	uc001pdj.4	+	0	2184	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	723					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)				TAGACAGGGACCATATTTTGA	0.398000										TCGA Ovarian(4;0.039)				399			157		0	0	0.014410	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725152	31725152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:31725152G>A	uc021wuu.1	-	7	2371	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	OSBPL10_uc003ceu.1_Missense_Mutation_p.S324F|OSBPL10_uc011axf.2_Missense_Mutation_p.S503F	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	567					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACCCCCACGGACATGCCCAT	0.478000														101			37		0	0	0.007835	0	0
ENAM	10117	broad.mit.edu	37	4	71508384	71508384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:71508384G>A	uc011caw.1	+	8	1522	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	414					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)			CACCCTGTAGGAACTACTGTT	0.458000														58			33		0	0	0.010818	0	0
CLCN1	1180	broad.mit.edu	37	7	143028368	143028368	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:143028368C>T	uc003wcr.1	+	8	1110	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	CLCN1_uc011ktc.1_Silent_p.F3F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	341					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)					GAATGGATTTCCCCTTTGACC	0.507000														86			25		0	0	0.007291	0	0
GH1	2688	broad.mit.edu	37	17	61995482	61995482	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:61995482G>A	uc002jdj.3	-	2	248	c.186C>T	c.(184-186)atC>atT	p.I62I	GH1_uc002jdi.3_Intron|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.I62I	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	62					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTTCCTTTGGGATATAGGCTT	0.517000														167			63		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3241875	3241875	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:3241875C>T	uc004crg.4	-	4	2008	c.1851G>A	c.(1849-1851)agG>agA	p.R617R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	617	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTAATTATCCTTCTGTTTG	0.443000														20			17		0	0	0.006122	0	0
RGPD4	285190	broad.mit.edu	37	2	108488640	108488640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:108488640C>T	uc010ywk.2	+	19	4262	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	RGPD4_uc002tdu.3_Missense_Mutation_p.R581C|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1394	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGCAAGTTCGTATAGTGAT	0.358000														224			101		0	0	0.014410	0	0
ZNF578	147660	broad.mit.edu	37	19	53014213	53014213	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:53014213C>T	uc002pzp.4	+	5	823	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTCAACATCCCAAAGAATTT	0.368000														64			34		0	0	0.015359	0	0
VWA5A	4013	broad.mit.edu	37	11	124007781	124007781	+	Missense_Mutation	SNP	G	A	A	rs143375060	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:124007781G>A	uc001pzu.3	+	14	1894	c.1685G>A	c.(1684-1686)aGg>aAg	p.R562K	VWA5A_uc001pzt.3_Missense_Mutation_p.R562K	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	562										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGGGCCTCAGGGAGACTCCA	0.453000														35			27		0	0	0.006320	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758729	62758729	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:62758729C>T	uc011kdj.2	-	1	149	c.81G>A	c.(79-81)ctG>ctA	p.L27L						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		GCCATTCCTCCAGAGAGAATT	0.428000														37			14		0	0	0.020292	0	0
C7orf58	79974	broad.mit.edu	37	7	120768439	120768439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:120768439G>A	uc003vjq.4	+	10	1753	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	C7orf58_uc003vjr.1_Missense_Mutation_p.E436K|C7orf58_uc003vjs.4_Missense_Mutation_p.E436K|C7orf58_uc003vjt.4_Missense_Mutation_p.E216K|C7orf58_uc010lkk.2_Missense_Mutation_p.E216K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	436						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AATACAGGGTGAAAACTATCA	0.358000														48			25		0	0	0.004656	0	0
C1orf168	199920	broad.mit.edu	37	1	57258104	57258104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57258104C>T	uc001cym.4	-	1	788	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E128K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	128										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATTACTTTTTCCTTAGTGATT	0.428000														94			53		0	0	0.014410	0	0
OSMR	9180	broad.mit.edu	37	5	38881857	38881857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:38881857G>A	uc003jln.2	+	3	811	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	OSMR_uc003jlm.2_Missense_Mutation_p.E137K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	137					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.E136D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTCCTGGGAGGAAGTCAGTGG	0.418000														82			30		0	0	0.019004	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962911	69962911	+	Missense_Mutation	SNP	G	A	A	rs146308452	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:69962911G>A	uc003heg.4	+	0	719	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	UGT2B7_uc010ihq.3_Missense_Mutation_p.E225K	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	225					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E225K(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTTTGGTTCGAAATATTTGA	0.318000														45			23		0	0	0.012319	0	0
CARM1	10498	broad.mit.edu	37	19	11024645	11024645	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:11024645C>T	uc002mpz.3	+	5	888	c.762C>T	c.(760-762)atC>atT	p.I254I	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Silent_p.I37I	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	254					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGGACATCATCATCTCGGAGC	0.607000														29			10		0	0	0.006214	0	0
LTBP2	4053	broad.mit.edu	37	14	75022267	75022267	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:75022267G>A	uc001xqa.3	-	3	1347	c.960C>T	c.(958-960)ggC>ggT	p.G320G		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	320					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCTGCTCAAGGCCTGGTCCCG	0.647000														31			31		0	0	0.012213	0	0
AKR1C4	1109	broad.mit.edu	37	10	5254973	5254973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:5254973C>T	uc001ihw.2	+	6	730	c.697C>T	c.(697-699)Cca>Tca	p.P233S		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	233					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CCCAAACTCCCCAGTTCTTTT	0.512000														26			12		0	0	0.016723	0	0
LRWD1	222229	broad.mit.edu	37	7	102108588	102108588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:102108588C>T	uc003uzn.3	+	5	896	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	253					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCCTCCCCGTCGGCCCAGGTG	0.687000														11			7		0	0	0.001984	0	0
PDZD4	57595	broad.mit.edu	37	X	153073826	153073826	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:153073826G>A	uc004fja.1	-	1	535	c.285C>T	c.(283-285)gtC>gtT	p.V95V	PDZD4_uc004fiy.1_Silent_p.V14V|PDZD4_uc004fiz.1_Silent_p.V95V|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	95						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCAGGATGACCATGGGCG	0.667000														24			15		0	0	0.004007	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131203	52131203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:52131203G>A	uc002pxe.3	-	4	1020	c.881C>T	c.(880-882)tCc>tTc	p.S294F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	294	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCCGGTATTGGAGATGGGGGT	0.622000														70			29		0	0	0.008361	0	0
PGM2	55276	broad.mit.edu	37	4	37836258	37836258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:37836258G>A	uc011byb.1	+	2	341	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	90					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CAGATACCTGGAAAAACAATT	0.343000														84			33		0	0	0.017118	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872130	84872130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:84872130C>T	uc010voh.1	+	1	256	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CRISPLD2_uc010vog.1_Missense_Mutation_p.P10L|CRISPLD2_uc002fik.4_Missense_Mutation_p.P10L|CRISPLD2_uc002fil.2_Missense_Mutation_p.P10L|CRISPLD2_uc002fim.2_Missense_Mutation_p.P10L|CRISPLD2_uc002fin.4_Missense_Mutation_p.P10L	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	10						extracellular region|transport vesicle		p.P10S(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GGTGTCATCCCCTTGGGGCTG	0.617000														88			54		0	0	0.014410	0	0
TCR-alpha	0	broad.mit.edu	37	14	22788987	22788987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22788987C>T	uc001wdr.2	+	1	252	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TCRA_uc001wbw.2_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_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 41, partial cds, clone: SEB 69.																		GGCATTGTTTCCTTGTTTATG	0.463000														17			10		0	0	0.010729	0	0
C22orf42	150297	broad.mit.edu	37	22	32554976	32554976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:32554976G>A	uc003amd.3	-	0	268	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	76										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTACCTTTGGACATCTTCAG	0.547000														131			43		0	0	0.013114	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072195	17072195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:17072195C>T	uc002zlp.1	-	0	1506	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	416					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAAGCCATTTCTGTGGCCCCA	0.542000														33			20		0	0	0.010504	0	0
OR4A47	403253	broad.mit.edu	37	11	48511046	48511046	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:48511046C>T	uc010rhx.2	+	0	702	c.702C>T	c.(700-702)gcC>gcT	p.A234A		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433000														78			39		0	0	0.019004	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47230265	47230265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:47230265C>T	uc002ion.2	+	3	696	c.637C>T	c.(637-639)Cca>Tca	p.P213S	B4GALNT2_uc010wlt.1_Missense_Mutation_p.P127S|B4GALNT2_uc010wlu.1_Missense_Mutation_p.P153S	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	213					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGTTCCCATCCCAGGTAAGTA	0.592000														16			3		0	0	0.009096	0	0
OR5D13	390142	broad.mit.edu	37	11	55541798	55541798	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:55541798G>A	uc010ril.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R295R(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGCCTTAGGAACAAAGATA	0.348000														32			14		0	0	0.003163	0	0
C12orf53	196500	broad.mit.edu	37	12	6806658	6806658	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:6806658G>A	uc021quc.1	-	2	657	c.318C>T	c.(316-318)atC>atT	p.I106I	C12orf53_uc001qqf.2_Silent_p.I106I|C12orf53_uc001qqg.2_Silent_p.I106I	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	106						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						GACCCCACACGATAGCCCAGG	0.622000														19			11		0	0	0.008291	0	0
ALMS1	7840	broad.mit.edu	37	2	73680499	73680499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:73680499C>T	uc002sje.1	+	7	6953	c.6842C>T	c.(6841-6843)cCc>cTc	p.P2281L	ALMS1_uc002sjf.1_Missense_Mutation_p.P2239L|ALMS1_uc002sjg.3_Missense_Mutation_p.P1669L|ALMS1_uc002sjh.1_Missense_Mutation_p.P1669L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2281					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTCCTGCTCCCCTTGCCCGT	0.398000														24			14		0	0	0.016723	0	0
LMAN2	10960	broad.mit.edu	37	5	176765561	176765561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:176765561G>A	uc003mge.3	-	2	598	c.361C>T	c.(361-363)Cac>Tac	p.H121Y		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	121	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding	p.V120I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTGTGCCGTGGACTTTGAAG	0.622000														129			61		0	0	0.014410	0	0
CLPS	1208	broad.mit.edu	37	6	35765054	35765054	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:35765054G>A	uc003ole.2	-	0	68	c.12C>T	c.(10-12)atC>atT	p.I4I	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Silent_p.I4I	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	4					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GGAGGATCAGGATCTTCTCCA	0.607000														87			17		0	0	0.007413	0	0
CEP85L	387119	broad.mit.edu	37	6	118801628	118801628	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:118801628G>A	uc003pya.2	-	9	1870	c.1803C>T	c.(1801-1803)ccC>ccT	p.P601P	CEP85L_uc003pxz.2_Silent_p.P598P	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	598						centrosome											CATCTAACATGGGAAGGCGGA	0.338000														30			21		0	0	0.012319	0	0
SHMT2	6472	broad.mit.edu	37	12	57626237	57626237	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:57626237C>T	uc001snf.2	+	6	801	c.595_splice	c.e6-1	p.P199_splice	SHMT2_uc001snh.2_Splice_Site_p.P201_splice|SHMT2_uc009zpk.2_Intron|SHMT2_uc001sng.2_Splice_Site_p.P95_splice|SHMT2_uc001sni.2_Splice_Site_p.P178_splice|SHMT2_uc010srg.2_Splice_Site_p.P208_splice|SHMT2_uc010srh.2_Splice_Site_p.P178_splice|SHMT2_uc001snj.2_Missense_Mutation_p.P103L|SHMT2_uc010sri.2_Splice_Site_p.P178_splice|SHMT2_uc001snk.2_Missense_Mutation_p.P103L|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587000														48			42		0	0	0.009718	0	0
CCDC158	339965	broad.mit.edu	37	4	77324342	77324342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:77324342C>T	uc003hkb.4	-	1	172	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	CCDC158_uc003hkd.3_Missense_Mutation_p.E7K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	7										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTATTTGATTCCCAAGCTTTT	0.323000														30			12		0	0	0.003163	0	0
THSD1	55901	broad.mit.edu	37	13	52971369	52971369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:52971369G>A	uc001vgo.3	-	2	1564	c.1019C>T	c.(1018-1020)aCa>aTa	p.T340I	THSD1_uc001vgp.3_Missense_Mutation_p.T340I|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	340	TSP type-1.					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)		ATACAAACCTGTATTTCTCTG	0.313000														40			14		0	0	0.004007	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025567	203025567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:203025567C>T	uc009xaj.3	+	22	2546	c.2546C>T	c.(2545-2547)cCt>cTt	p.P849L	PPFIA4_uc010pqf.2_Missense_Mutation_p.P431L|PPFIA4_uc001gyz.3_Missense_Mutation_p.P218L|PPFIA4_uc001gza.3_Missense_Mutation_p.P218L|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	218					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACTTCTCCTCCTTCCTCACCC	0.567000														34			32		0	0	0.013726	0	0
CHP2	63928	broad.mit.edu	37	16	23768523	23768523	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:23768523T>C	uc002dmb.1	+	6	838	c.415_splice	c.e6-1	p.V139_splice		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	139	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)		ATCTCTCAGGTTCTCCGTCTG	0.557000														44			14		0	0	0.003163	0	0
TMC2	117532	broad.mit.edu	37	20	2552872	2552872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:2552872G>A	uc002wgf.1	+	4	617	c.602G>A	c.(601-603)gGg>gAg	p.G201E	TMC2_uc002wgg.1_Missense_Mutation_p.G185E|TMC2_uc010zpw.1_Missense_Mutation_p.G33E|TMC2_uc010zpx.1_Missense_Mutation_p.G32E	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	201	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGGAAAGGGGAAAGGCAAG	0.488000														91			12		0	0	0.013537	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188753	50188753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:50188753C>T	uc009zlk.2	-	7	3092	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	NCKAP5L_uc001rvc.3_Missense_Mutation_p.E168K|NCKAP5L_uc001rvb.2_Missense_Mutation_p.E557K	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	960										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TTGAGGCTCTCGGCCTCCAGC	0.672000														3			4		0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38840746	38840746	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:38840746C>T	uc021yzh.1	+	50	7411	c.7302C>T	c.(7300-7302)tcC>tcT	p.S2434S	DNAH8_uc003ooe.2_Silent_p.S2217S	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						ACTTAAATTCCGTTTTGGATG	0.378000														90			20		0	0	0.018920	0	0
C1orf198	84886	broad.mit.edu	37	1	230979542	230979542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:230979542G>A	uc001hub.3	-	2	529	c.485C>T	c.(484-486)tCc>tTc	p.S162F	C1orf198_uc009xfh.2_Missense_Mutation_p.S32F|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.S124F	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	162										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGGGCCTGGGAGCCCTGGGA	0.627000														187			95		0	0	0.014410	0	0
ABCB1	5243	broad.mit.edu	37	7	87179824	87179824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:87179824C>T	uc003uiz.2	-	11	1677	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	ABCB1_uc011khc.2_Missense_Mutation_p.R331K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	395	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTGAACATTTCTGAATTCCAA	0.313000														55			18		0	0	0.008871	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905704	139905704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:139905704C>T	uc003lfs.2	+	25	4770	c.4616C>T	c.(4615-4617)cCc>cTc	p.P1539L	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1539L|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P1019L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P278L|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P177L|ANKHD1-EIF4EBP3_uc010jfl.3_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1539						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACAACTCCCAGCACCAAT	0.413000														106			50		0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90459687	90459687	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:90459687G>A	uc003kju.3	+	89	18987	c.18891G>A	c.(18889-18891)agG>agA	p.R6297R	GPR98_uc003kjt.3_Silent_p.R4003R|GPR98_uc003kjw.3_Silent_p.R1958R|GPR98_uc003kjx.3_Silent_p.R325R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6297					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	p.R6297M(1)		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)		TGGAGCTCAGGAGGATACCCA	0.502000														10			5		0	0	0.001984	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769189	15769189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:15769189G>A	uc010xok.2	+	9	1281	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	CYP4F3_uc010xol.2_Missense_Mutation_p.G411S|CYP4F3_uc002nbj.3_Missense_Mutation_p.G411S|CYP4F3_uc010xom.2_Missense_Mutation_p.G262S|CYP4F3_uc002nbk.3_Missense_Mutation_p.G411S|CYP4F3_uc010xon.2_Missense_Mutation_p.G121S	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	411					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTCCCAGACGGCCGGGTCAT	0.642000														55			23		0	0	0.012319	0	0
RELN	5649	broad.mit.edu	37	7	103126741	103126741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:103126741C>T	uc022ajr.1	-	60	10046	c.9886G>A	c.(9886-9888)Ggg>Agg	p.G3296R	RELN_uc022ajq.1_Missense_Mutation_p.G3296R|RELN_uc010liz.3_Missense_Mutation_p.G3296R|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3296					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)		GCCAGCTGCCCACAGCCACTT	0.512000														62			24		0	0	0.006320	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744139	70744139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:70744139C>T	uc003xyl.3	-	1	1477	c.770G>A	c.(769-771)gGa>gAa	p.G257E	SLCO5A1_uc010lzb.3_Missense_Mutation_p.G257E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G257E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.G257E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	257						integral to membrane|plasma membrane	transporter activity	p.G257E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGATTATTTCCTCCCGAGTC	0.547000														39			20		0	0	0.014323	0	0
PTEN	5728	broad.mit.edu	37	10	89720876	89720876	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:89720876G>C	uc001kfb.3	+	8	2058	c.1026_splice	c.e8+1	p.K342_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	342	C2 tensin-type.		K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAATTTTAAGGTCAGTTAAAT	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				38			3		0	0	0.009096	0	0
GPC4	2239	broad.mit.edu	37	X	132439837	132439837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:132439837C>T	uc004exc.1	-	5	1330	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	GPC4_uc011mvg.1_Missense_Mutation_p.R303H	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	373					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.E372K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TGTGGTTGGGCGTTCCTCGGG	0.537000														132			106		0	0	0.014410	0	0
ABCC11	85320	broad.mit.edu	37	16	48244997	48244997	+	Silent	SNP	G	A	A	rs139456533		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:48244997G>A	uc002eff.1	-	9	1820	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ABCC11_uc002efg.1_Silent_p.I490I|ABCC11_uc002efh.1_Silent_p.I490I|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	490						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCCCATTGACGATCCCGGGAC	0.577000														83			39		0	0	0.007835	0	0
ALG3	10195	broad.mit.edu	37	3	183962422	183962422	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:183962422G>A	uc003fne.2	-	4	724	c.693C>T	c.(691-693)gcC>gcT	p.A231A	ALG3_uc011brc.1_Silent_p.A196A|ALG3_uc011brd.1_Silent_p.A175A|ALG3_uc011bre.1_Silent_p.A183A	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	231					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTGGGGAGGGCCCCACGGA	0.552000														14			5		0	0	0.001168	0	0
PARD3	56288	broad.mit.edu	37	10	34688294	34688294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:34688294C>T	uc010qej.2	-	6	1184	c.854G>A	c.(853-855)gGa>gAa	p.G285E	PARD3_uc010qep.2_Missense_Mutation_p.G241E|PARD3_uc010qeq.2_Missense_Mutation_p.G241E|PARD3_uc010qek.2_Missense_Mutation_p.G285E|PARD3_uc010qel.2_Missense_Mutation_p.G285E|PARD3_uc010qem.2_Missense_Mutation_p.G285E|PARD3_uc010qen.2_Missense_Mutation_p.G285E|PARD3_uc010qeo.2_Missense_Mutation_p.G285E|PARD3_uc001ixo.2_Missense_Mutation_p.G15E|PARD3_uc001ixr.2_Missense_Mutation_p.G285E|PARD3_uc001ixq.2_Missense_Mutation_p.G285E|PARD3_uc001ixp.2_Missense_Mutation_p.G285E|PARD3_uc001ixt.1_Missense_Mutation_p.G106E|PARD3_uc001ixu.2_Missense_Mutation_p.G241E	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	285	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TACGTGGATTCCCAGAGGCCC	0.438000														93			37		0	0	0.013114	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008216	32008216	+	Missense_Mutation	SNP	G	A	A	rs150804717		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:32008216G>A	uc003nze.2	+	7	1080	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP21A2_uc003nzf.2_Missense_Mutation_p.E295K	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	324					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTAGACCACGAACTGGGCCC	0.682000														268			57		0	0	0.014410	0	0
CSH2	1443	broad.mit.edu	37	17	61949558	61949558	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:61949558C>T	uc002jch.3	-	4	697	c.582G>A	c.(580-582)aaG>aaA	p.K194K	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.K99K	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	194					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TGTCCATGTCCTTCCTGAAGC	0.562000														106			45		0	0	0.014410	0	0
MEP1A	4224	broad.mit.edu	37	6	46806867	46806867	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:46806867G>A	uc011dwh.1	+	12	2327	c.2319G>A	c.(2317-2319)agG>agA	p.R773R	MEP1A_uc010jzh.1_Silent_p.R745R|MEP1A_uc011dwg.1_Silent_p.R467R|MEP1A_uc011dwi.1_Silent_p.R645R	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	745					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)			AAAGGCCAAGGAAGTGACCTG	0.557000														49			18		0	0	0.007413	0	0
CA1	759	broad.mit.edu	37	8	86244781	86244781	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:86244781C>T	uc022axc.1	-	5	530	c.451_splice	c.e5-1	p.V151_splice	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Splice_Site_p.V151_splice|CA1_uc022axd.1_Splice_Site_p.V151_splice|CA1_uc010mae.2_Splice_Site_p.V151_splice|CA1_uc003ydi.3_Splice_Site_p.V151_splice	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	151					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCACCAACCTGGAGATTT	0.328000														33			8		0	0	0.006214	0	0
C8A	731	broad.mit.edu	37	1	57333298	57333298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57333298G>A	uc001cyo.2	+	1	226	c.94G>A	c.(94-96)Gct>Act	p.A32T		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	32					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGACGGGCAGCTACACCCGC	0.463000														25			7		0	0	0.001984	0	0
RPL18	6141	broad.mit.edu	37	19	49120620	49120620	+	Silent	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:49120620A>G	uc002pjq.1	-	2	184	c.151T>C	c.(151-153)Ttg>Ctg	p.L51L	RPL18_uc010xzs.1_Silent_p.L51L|RPL18_uc021uwv.1_Silent_p.L51L|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CTCATAAACAACCTCTTCAAC	0.567000														133			55		0	0	0.014410	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634486	206634486	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:206634486C>T	uc001hdy.3	+	19	2677	c.2676C>T	c.(2674-2676)ccC>ccT	p.P892P	SRGAP2_uc010pru.2_Silent_p.P891P	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	979	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCTTGGAGCCCCTCAAAACCT	0.622000														39			10		0	0	0.008291	0	0
VWA7	80737	broad.mit.edu	37	6	31742374	31742374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:31742374C>T	uc011dog.2	-	4	878	c.640G>A	c.(640-642)Gag>Aag	p.E214K	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	214						extracellular region											CAGCTCAACTCCTCGCAATCG	0.577000														293			79		0	0	0.014410	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856726	125856726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:125856726C>T	uc003eim.1	-	9	1344	c.1154G>A	c.(1153-1155)gGg>gAg	p.G385E	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.G284E|ALDH1L1_uc003eio.3_Missense_Mutation_p.G87E|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G411E	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	385	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GATGAAGTCCCCAAAGGTGGA	0.557000														48			22		0	0	0.012319	0	0
OLFML3	56944	broad.mit.edu	37	1	114524268	114524269	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:114524268_114524269CC>TT	uc001eer.1	+	2	1207_1208	c.1098_1099CC>TT	c.(1096-1101)ccccgc>ccTTgc	p.R367C	OLFML3_uc001ees.1_Missense_Mutation_p.R347C|OLFML3_uc001eet.1_Missense_Mutation_p.R223C	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	367	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTATTTTCCCCGCAGATATGG	0.584000														43			15		0	0	0.004672	0	0
LILRB4	11006	broad.mit.edu	37	19	55179409	55179409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:55179409C>T	uc002qgp.3	+	11	1648	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	LILRB4_uc002qgq.3_Missense_Mutation_p.P428L|LILRB4_uc010ert.3_Missense_Mutation_p.P470L|LILRB4_uc010eru.3_Missense_Mutation_p.P459L	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	429						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCTCCTCCATCCCAGGAA	0.617000														79			29		0	0	0.010818	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645922	19645922	+	Missense_Mutation	SNP	G	A	A	rs146746671		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:19645922G>A	uc002gwk.3	-	1	1030	c.767C>T	c.(766-768)cCc>cTc	p.P256L	ALDH3A1_uc010cqu.3_Missense_Mutation_p.P139L|ALDH3A1_uc010vzd.2_Missense_Mutation_p.P139L|ALDH3A1_uc002gwj.3_Missense_Mutation_p.P139L|ALDH3A1_uc010cqv.3_Missense_Mutation_p.P139L|ALDH3A1_uc002gwl.1_Missense_Mutation_p.P66L			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	139					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGCTCCGAGGGCTTGAGGAC	0.617000														38			25		0	0	0.018920	0	0
MUC16	94025	broad.mit.edu	37	19	8976783	8976783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8976783C>T	uc002mkp.3	-	72	42487	c.42283G>A	c.(42283-42285)Ggc>Agc	p.G14095S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G895S|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14126				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGCTGAGCCCTTGCCCATA	0.567000														28			11		0	0	0.008291	0	0
SF3B4	10262	broad.mit.edu	37	1	149895856	149895856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:149895856G>A	uc001etk.2	-	4	1457	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	322						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.P322H(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGCGTGGGGATGTCCTAAG	0.582000														20			3		0	0	0.001168	0	0
EMR1	2015	broad.mit.edu	37	19	6901952	6901952	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:6901952A>G	uc002mfw.3	+	5	619	c.581A>G	c.(580-582)aAc>aGc	p.N194S	EMR1_uc010dvc.3_Missense_Mutation_p.N194S|EMR1_uc010dvb.3_Missense_Mutation_p.N142S|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	194	EGF-like 4; calcium-binding (Potential).				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)					ACTGTTGGAAACTACTCTTGT	0.483000														201			70		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	8993392	8993392	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8993392C>T	uc002mkp.3	-	65	41901	c.41697G>A	c.(41695-41697)agG>agA	p.R13899R	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.R716R|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13902	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGACTGTCCCTGTCCAGTG	0.562000														133			50		0	0	0.014410	0	0
SLMAP	7871	broad.mit.edu	37	3	57882648	57882648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:57882648C>T	uc003dje.1	+	14	1644	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	SLMAP_uc003djc.1_Missense_Mutation_p.S476F|SLMAP_uc003djd.1_Missense_Mutation_p.S463F|SLMAP_uc003djf.1_Missense_Mutation_p.S442F|SLMAP_uc003djg.1_Missense_Mutation_p.S74F|SLMAP_uc011bez.1_Missense_Mutation_p.S14F|SLMAP_uc011bfa.1_Missense_Mutation_p.S14F|SLMAP_uc003djh.3_Missense_Mutation_p.S14F|SLMAP_uc003dji.1_Missense_Mutation_p.S14F|SLMAP_uc011bfb.1_Missense_Mutation_p.S14F|SLMAP_uc011bfc.1_Missense_Mutation_p.S14F	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	480					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GCCAAAGTGTCCCTTTTAAAA	0.343000														59			24		0	0	0.021523	0	0
C2orf55	343990	broad.mit.edu	37	2	99454685	99454685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:99454685G>A	uc002szf.1	-	2	430	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	46										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GTGGACGACGGCGATTCTTTT	0.403000														24			11		0	0	0.010729	0	0
CABS1	85438	broad.mit.edu	37	4	71201408	71201408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:71201408C>T	uc003hff.3	+	0	738	c.652C>T	c.(652-654)Cct>Tct	p.P218S	CABS1_uc021xoz.1_Missense_Mutation_p.P218S	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	218						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCTGAAATCCCTCCTGCTCC	0.423000														37			10		0	0	0.006214	0	0
YSK4	80122	broad.mit.edu	37	2	135743584	135743584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:135743584G>A	uc002tue.1	-	6	2889	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S840F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.S681F|YSK4_uc002tui.4_Missense_Mutation_p.S970F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	953							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		AATTTCTTGGGAAATTGAATT	0.308000														24			13		0	0	0.020292	0	0
KIF26A	26153	broad.mit.edu	37	14	104642925	104642925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:104642925C>T	uc001yos.4	+	11	3800	c.3800C>T	c.(3799-3801)tCc>tTc	p.S1267F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1267					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACACTTGGCTCCCCCCGGCTG	0.697000														21			17		0	0	0.004990	0	0
GRIA3	2892	broad.mit.edu	37	X	122459949	122459949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:122459949G>A	uc004etq.4	+	3	873	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GRIA3_uc004etr.4_Missense_Mutation_p.G194E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G178E	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	194					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGGTCTGTGGGAAACATAAAG	0.443000														18			10		0	0	0.006214	0	0
TSKS	60385	broad.mit.edu	37	19	50245250	50245250	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:50245250G>A	uc002ppm.3	-	8	1400	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	463							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCTGCTGCAGGGACTCCGTAG	0.627000														38			14		0	0	0.004007	0	0
NSUN7	79730	broad.mit.edu	37	4	40778268	40778268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:40778268G>A	uc003gvj.4	+	6	1523	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	NSUN7_uc003gvi.4_Missense_Mutation_p.G343E	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ACAAAAATAGGATGTAAAAGT	0.264000														38			14		0	0	0.004990	0	0
CNTN5	53942	broad.mit.edu	37	11	99827607	99827607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:99827607C>T	uc001pga.3	+	7	1247	c.743C>T	c.(742-744)tCc>tTc	p.S248F	CNTN5_uc009ywv.2_Missense_Mutation_p.S248F|CNTN5_uc001pfz.3_Missense_Mutation_p.S248F|CNTN5_uc021qpb.1_Missense_Mutation_p.S248F|CNTN5_uc021qpc.1_Missense_Mutation_p.S174F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	248	Ig-like C2-type 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)		CGGTTCATCTCCCAGGAGACA	0.423000														43			15		0	0	0.007413	0	0
TTYH1	57348	broad.mit.edu	37	19	54940485	54940485	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:54940485G>C	uc002qfr.3	+	6	857	c.735_splice	c.e6-1	p.V245_splice	TTYH1_uc010yey.2_Splice_Site_p.V294_splice|TTYH1_uc002qfq.3_Splice_Site_p.V245_splice|TTYH1_uc002qft.3_Splice_Site_p.V245_splice|TTYH1_uc002qfu.1_Splice_Site_p.V157_splice	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	245					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCCACTCTAGGATGACAGTCA	0.642000														71			30		0	0	0.010818	0	0
ADRBK2	157	broad.mit.edu	37	22	26107084	26107084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:26107084C>T	uc003abx.4	+	16	1592	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	ADRBK2_uc003abw.2_Missense_Mutation_p.A369V|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	482	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GCTGCTGATGCCTTTGATATT	0.413000														37			14		0	0	0.004990	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379952	131379952	+	Silent	SNP	C	T	T	rs146418243	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:131379952C>T	uc004bvl.4	+	40	5518	c.5376C>T	c.(5374-5376)taC>taT	p.Y1792Y	SPTAN1_uc004bvm.4_Silent_p.Y1797Y|SPTAN1_uc004bvn.4_Silent_p.Y1772Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1792					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGAGGACTACGGCCGGGACC	0.587000														49			23		0	0	0.014323	0	0
FAM131B	9715	broad.mit.edu	37	7	143053691	143053691	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:143053691G>A	uc010lpa.3	-	6	1179	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	FAM131B_uc010loz.3_Silent_p.S285S|FAM131B_uc003wct.3_Silent_p.S317S|FAM131B_uc003wcu.4_Silent_p.S317S	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	317										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCACACCTGAGGATGTGACGT	0.592000														101			34		0	0	0.013726	0	0
OVGP1	5016	broad.mit.edu	37	1	111963975	111963975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:111963975C>T	uc001eba.3	-	7	882	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	OVGP1_uc001eaz.3_Missense_Mutation_p.G238R|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	276					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GCCTGCAACCCATTCTTAGAG	0.502000														109			41		0	0	0.009718	0	0
KRT81	3887	broad.mit.edu	37	12	52681839	52681839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:52681839C>T	uc001sab.3	-	4	879	c.829G>A	c.(829-831)Gag>Aag	p.E277K	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	277	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTTAATCTCGGCAATGATG	0.587000														39			25		0	0	0.018920	0	0
OR1B1	347169	broad.mit.edu	37	9	125390894	125390894	+	Silent	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:125390894G>C	uc011lyz.2	-	0	921	c.921C>G	c.(919-921)ctC>ctG	p.L307L		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCAGCCTGCAGAGTGCACCCT	0.473000														33			24		0	0	0.021523	0	0
PSD	5662	broad.mit.edu	37	10	104176318	104176318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:104176318G>A	uc001kvg.1	-	1	1005	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.P160S|PSD_uc001kvi.1_Missense_Mutation_p.P160S|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	160	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCTCTGGCGGGGAGTGGGTCT	0.657000														6			4		0	0	0.014758	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	G	G	rs78291036	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000														51			18		0	0	0.007413	0	0
PLA2G7	7941	broad.mit.edu	37	6	46678293	46678293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:46678293C>T	uc010jzf.3	-	7	1035	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	PLA2G7_uc021zae.1_Missense_Mutation_p.E256K|PLA2G7_uc011dwd.1_Missense_Mutation_p.E211K|PLA2G7_uc011dwe.1_Missense_Mutation_p.E129K	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	256					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTCAGTTGTTCCATATCAAAC	0.328000														62			14		0	0	0.016723	0	0
POU6F2	11281	broad.mit.edu	37	7	39379543	39379543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:39379543C>T	uc003thb.2	+	5	957	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	POU6F2_uc022acb.1_Missense_Mutation_p.P272S|POU6F2_uc010kxo.3_Missense_Mutation_p.P264S	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	272	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			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						gagctccagccccCCGCAGAA	0.622000														46			19		0	0	0.008871	0	0
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323340A>G	uc002ktd.1	-	2		c.119T>C								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		CTTATGGCCAATAAAAGTGGT	0.299000														10			3		0	0	0.009096	0	0
PDGFB	5155	broad.mit.edu	37	22	39627771	39627771	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:39627771G>A	uc003axf.3	-	3	1301	c.312C>T	c.(310-312)ttC>ttT	p.F104F	PDGFB_uc003axe.3_Silent_p.F89F	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	104					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGGAGATCTCGAACACCTCGG	0.647000			T	COL1A1	DFSP									15			3		0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	34109108	34109108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:34109108G>A	uc001zhi.3	+	74	10618	c.10548G>A	c.(10546-10548)tgG>tgA	p.W3516*	RYR3_uc010bar.3_Nonsense_Mutation_p.W3511*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3516					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.I3516M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGATTTTGGATAGAAACAG	0.458000														16			6		0	0	0.001984	0	0
MC2R	4158	broad.mit.edu	37	18	13884968	13884968	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:13884968G>A	uc002ksp.1	-	1	727	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	MC2R_uc021uhs.1_Silent_p.L184L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	184					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACCAGCATCAGCGGGAACAGC	0.562000														59			15		0	0	0.020292	0	0
AQR	9716	broad.mit.edu	37	15	35202393	35202393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:35202393G>A	uc001ziv.3	-	16	1787	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	536						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATCTGCACGAACTCGGGTT	0.448000														97			39		0	0	0.009718	0	0
NTRK3	4916	broad.mit.edu	37	15	88476264	88476264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:88476264C>T	uc002bme.2	-	15	2174	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E	NTRK3_uc002bmh.2_Missense_Mutation_p.G615E|NTRK3_uc002bmf.2_Missense_Mutation_p.G623E|NTRK3_uc021sua.1_Missense_Mutation_p.G615E|NTRK3_uc010upl.1_Missense_Mutation_p.G525E|NTRK3_uc010bnh.1_Missense_Mutation_p.G615E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	623	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCAGGTCTCCATGCTTCAT	0.522000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				30			30		0	0	0.008361	0	0
IGSF11	152404	broad.mit.edu	37	3	118644973	118644973	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:118644973G>A	uc003ebw.3	-	3	802	c.555C>T	c.(553-555)ctC>ctT	p.L185L	IGSF11_uc011biv.2_Silent_p.L185L|IGSF11_uc003ebx.3_Silent_p.L185L|IGSF11_uc003eby.3_Silent_p.L184L|IGSF11_uc003ebz.3_Silent_p.L184L|IGSF11_uc010hqs.3_Silent_p.L184L	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	185	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTAGTTTGAGGGTATTGT	0.408000														38			15		0	0	0.004990	0	0
OR8K3	219473	broad.mit.edu	37	11	56086282	56086282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:56086282C>T	uc010rjf.2	+	0	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTACTTTATCCTTCTGTGGC	0.373000														57			23		0	0	0.021523	0	0
KDR	3791	broad.mit.edu	37	4	55968659	55968659	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:55968659C>T	uc003has.3	-	13	2306	c.2004G>A	c.(2002-2004)acG>acA	p.T668T	KDR_uc003hat.1_Silent_p.T668T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	668	Ig-like C2-type 7.				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	p.T668M(1)|p.T668K(1)		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)	TTCCTGTGATCGTGGGTGCCA	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				37			10		0	0	0.013537	0	0
LAMB3	3914	broad.mit.edu	37	1	209803960	209803960	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:209803960T>C	uc001hhg.3	-	8	1333	c.943_splice	c.e8+1	p.R315_splice	LAMB3_uc009xco.3_Splice_Site_p.R315_splice|LAMB3_uc001hhh.3_Splice_Site_p.R315_splice|LAMB3_uc010psl.1_Splice_Site|LAMB3_uc009xcp.1_Missense_Mutation_p.S251G	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	315	Laminin EGF-like 1.				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)		AAGCTCCTACTTTGGCATTCA	0.612000														77			20		0	0	0.014323	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652280	234652280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:234652280C>T	uc002vuz.3	-	0	382	c.283G>A	c.(283-285)Gac>Aac	p.D95N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	95					protein folding		heat shock protein binding|unfolded protein binding										TCGGCTGGGTCGCGGAAGCTG	0.627000														91			35		0	0	0.005524	0	0
EMR3	84658	broad.mit.edu	37	19	14765866	14765866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:14765866C>T	uc002mzi.4	-	5	653	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	EMR3_uc010dzp.3_Missense_Mutation_p.E117K|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	169					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACTTTCGATTCCACATCCCGG	0.408000														65			35		0	0	0.015359	0	0
MUC13	56667	broad.mit.edu	37	3	124641140	124641140	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:124641140G>A	uc003ehq.2	-	3	684	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	215	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCTTCCCAGGGAATACCTTTC	0.338000														26			15		0	0	0.003163	0	0
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323336G>A	uc002ktd.1	-	2		c.123C>T								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		TTTCCTTATGGCCAATAAAAG	0.289000														10			3		0	0	0.014758	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355734	16355734	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:16355734G>A	uc001axu.3	+	11	1247	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Nonsense_Mutation_p.W346*|CLCNKA_uc001axv.3_Nonsense_Mutation_p.W389*|CLCNKA_uc010obx.1_Nonsense_Mutation_p.W36*|CLCNKA_uc010oby.1_Missense_Mutation_p.G119R|CLCNKA_uc021ogl.1_Nonsense_Mutation_p.W36*	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	389					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCTTTGGTGGGAATGGTACC	0.627000														75			30		0	0	0.008361	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355224	38355224	+	Silent	SNP	C	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:38355224C>A	uc003cib.2	+	6	1243	c.1170C>A	c.(1168-1170)acC>acA	p.T390T	SLC22A14_uc010hhc.1_Silent_p.T390T|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	390						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCAGGTTTACCGTCAGTTACA	0.577000														62			29		1.13719e-10	1.16133e-10	0.008361	1	0
RABEP2	79874	broad.mit.edu	37	16	28925708	28925708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:28925708G>A	uc002drq.3	-	4	791	c.743C>T	c.(742-744)tCc>tTc	p.S248F	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.S177F|RABEP2_uc010byn.3_Missense_Mutation_p.S248F|RABEP2_uc002drr.3_Missense_Mutation_p.S248F	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	248					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						TTGGGGCAGGGAGGAGCTGCT	0.672000														34			10		0	0	0.010729	0	0
ZAN	7455	broad.mit.edu	37	7	100346076	100346076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:100346076G>A	uc003uwj.3	+	10	1397	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	ZAN_uc003uwk.3_Missense_Mutation_p.G411E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	411	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGCCCTGCGGGAGGTTTCCCT	0.592000														12			6		0	0	0.001984	0	0
ELTD1	64123	broad.mit.edu	37	1	79357242	79357242	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:79357242G>A	uc001diq.4	-	13	2133	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	659					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATAAAAAAATGAACATCCCCT	0.398000														29			12		0	0	0.016723	0	0
CEACAM16	388551	broad.mit.edu	37	19	45208946	45208946	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:45208946C>T	uc010xxd.2	+	4	954	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	250										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GTCCCTCACCCTGTGGTGCGT	0.602000														300			141		0	0	0.014410	0	0
MLL3	58508	broad.mit.edu	37	7	151841956	151841956	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:151841956A>C	uc003wla.3	-	54	14404	c.14185T>G	c.(14185-14187)Tta>Gta	p.L4729V	MLL3_uc003wkz.3_Missense_Mutation_p.L3843V|MLL3_uc003wkx.3_Missense_Mutation_p.L887V|MLL3_uc003wky.3_Missense_Mutation_p.L2289V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4729					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)		GTGCTGTTTAAGGTGTGAGGC	0.423000			N		medulloblastoma									27			10		0	0	0.008291	0	0
BCAR1	9564	broad.mit.edu	37	16	75268868	75268868	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:75268868G>A	uc002fdv.3	-	4	2075	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	BCAR1_uc002fdt.3_Silent_p.F96F|BCAR1_uc002fdu.3_Silent_p.F433F|BCAR1_uc010vna.2_Silent_p.F641F|BCAR1_uc010cgu.3_Silent_p.F661F|BCAR1_uc010vnb.2_Silent_p.F689F|BCAR1_uc002fdw.3_Silent_p.F643F|BCAR1_uc010vnc.2_Silent_p.F495F|BCAR1_uc010vnd.2_Silent_p.F661F|BCAR1_uc002fdx.3_Silent_p.F661F	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	643					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGAGGTGAACTTAGGGG	0.662000														51			26		0	0	0.007291	0	0
SPDYC	387778	broad.mit.edu	37	11	64939939	64939939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:64939939G>A	uc010rnz.2	+	4	379	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	127	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGACCTGGAGGGCCCCAAATG	0.557000														113			44		0	0	0.014410	0	0
NFIA	4774	broad.mit.edu	37	1	61554224	61554224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:61554224G>A	uc010oos.2	+	2	648	c.566G>A	c.(565-567)aGt>aAt	p.S189N	NFIA_uc001czy.3_Missense_Mutation_p.S136N|NFIA_uc001czw.3_Missense_Mutation_p.S144N|NFIA_uc001czv.3_Missense_Mutation_p.S144N	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	144					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CCGCTGGAAAGTACTGATGGC	0.473000														74			32		0	0	0.012213	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367791	145367791	+	Missense_Mutation	SNP	G	A	A	rs78046651		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:145367791G>A	uc021oul.1	+	82	10422	c.10387G>A	c.(10387-10389)Ggg>Agg	p.G3463R	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3463										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aagaaaagaaggggaagaaga	0.433000														39			22		0	0	0.021523	0	0
XIRP2	129446	broad.mit.edu	37	2	168104432	168104432	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:168104432A>G	uc002udx.3	+	8	6619	c.6530A>G	c.(6529-6531)gAc>gGc	p.D2177G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2002G|XIRP2_uc010fpq.3_Missense_Mutation_p.D1955G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2002	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAACTTACGACCTTTCAGGG	0.368000														32			14		0	0	0.006122	0	0
ERN1	2081	broad.mit.edu	37	17	62132152	62132152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:62132152G>A	uc002jdz.2	-	13	1822	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	570					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGACAGAAGGAAATTTTCCC	0.488000														6			7		0	0	0.001984	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														11			3		0	0	0.004672	0	0
CABYR	26256	broad.mit.edu	37	18	21735932	21735932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:21735932C>T	uc002kux.3	+	3	619	c.467C>T	c.(466-468)cCa>cTa	p.P156L	CABYR_uc021uig.1_Missense_Mutation_p.P138L|CABYR_uc010xbb.1_Missense_Mutation_p.P58L|CABYR_uc002kuy.3_Missense_Mutation_p.P156L|CABYR_uc002kuz.3_Missense_Mutation_p.P156L|CABYR_uc002kva.3_Missense_Mutation_p.P138L|CABYR_uc002kvb.3_Missense_Mutation_p.P58L|CABYR_uc002kvc.3_Missense_Mutation_p.P156L|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	156					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCCTCATCACCACCTCCAACA	0.507000														72			26		0	0	0.005443	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584677	72584677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72584677C>T	uc002jkz.2	-	1	381	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	118	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						TGAACTTTGACCCCAAGATCA	0.483000														73			25		0	0	0.021523	0	0
CACNA1B	774	broad.mit.edu	37	9	141016070	141016070	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:141016070C>T	uc004cog.3	+	45	6778	c.6633C>T	c.(6631-6633)ttC>ttT	p.F2211F	CACNA1B_uc022bqn.1_Intron|CACNA1B_uc004coi.3_Silent_p.F1425F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2213					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.I2211>?(1)		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)	CCATCCACTTCGCCGGGGCTC	0.706000														26			9		0	0	0.006214	0	0
CXorf21	80231	broad.mit.edu	37	X	30577862	30577862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:30577862G>A	uc022bui.1	-	0	611	c.611C>T	c.(610-612)cCt>cTt	p.P204L	CXorf21_uc004dcg.2_Missense_Mutation_p.P204L	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	204										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATTAGAAATAGGATTCTGCAT	0.423000														51			34		0	0	0.021022	0	0
ZNF224	7767	broad.mit.edu	37	19	44610703	44610703	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:44610703C>T	uc002oyh.2	+	5	707	c.390C>T	c.(388-390)ttC>ttT	p.F130F	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	130					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGGTGATTTCCCCTGCCAGA	0.433000														45			19		0	0	0.007413	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855861	16855861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:16855861G>A	uc002gqs.1	-	1	111	c.98C>T	c.(97-99)tCc>tTc	p.S33F	TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	33					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTCGGGGCAGGATCTCATAGC	0.617000									IgA Deficiency, Selective					28			11		0	0	0.010729	0	0
ITGB6	3694	broad.mit.edu	37	2	160964243	160964243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:160964243G>A	uc002ubh.2	-	13	2230	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ITGB6_uc010fou.2_Missense_Mutation_p.R739C|ITGB6_uc010zcq.1_Missense_Mutation_p.R697C|ITGB6_uc010fov.1_Missense_Mutation_p.R739C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	739	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTTCTTTACGATCATGAAAT	0.458000														62			23		0	0	0.018920	0	0
CDH8	1006	broad.mit.edu	37	16	61851459	61851459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:61851459G>A	uc002eog.2	-	6	2156	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	CDH8_uc002eoh.3_Missense_Mutation_p.H170Y	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	401	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATTTTCATGAACTTCAAGT	0.453000														42			18		0	0	0.007413	0	0
KCNN3	3782	broad.mit.edu	37	1	154744721	154744721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:154744721G>A	uc021pah.1	-	2	1492	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	KCNN3_uc001ffo.3_Missense_Mutation_p.S88F|KCNN3_uc001ffp.3_Missense_Mutation_p.S393F|KCNN3_uc009wox.1_Missense_Mutation_p.S393F	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	398						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGTGTGTAGGAGAAGGCCAG	0.607000														37			8		0	0	0.006214	0	0
VSIG4	11326	broad.mit.edu	37	X	65259822	65259822	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:65259822G>A	uc004dwh.2	-	0	146	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	VSIG4_uc004dwi.2_Silent_p.L7L|VSIG4_uc004dwj.3_Silent_p.L7L|VSIG4_uc011moy.2_Silent_p.L7L	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	7					complement activation, alternative pathway	integral to membrane	protein binding	p.G6C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGTAGCAGGCCCAGTAAG	0.562000														14			20		0	0	0.004656	0	0
CADM3	57863	broad.mit.edu	37	1	159169545	159169545	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:159169545C>T	uc001ftl.2	+	7	1136	c.957C>T	c.(955-957)ccC>ccT	p.P319P	CADM3_uc001ftk.2_Silent_p.P353P|LOC100131825_uc001ftm.2_Intron	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	319					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TTCCAGACCCCAGTCCGGTGC	0.537000														69			19		0	0	0.018920	0	0
USP11	8237	broad.mit.edu	37	X	47103918	47103918	+	Silent	SNP	C	T	T	rs137968498		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:47103918C>T	uc004dhp.3	+	13	1941	c.1941C>T	c.(1939-1941)aaC>aaT	p.N647N	USP11_uc004dhq.3_Silent_p.N374N	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	647					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAAACCCAACTCAGATGATG	0.547000														23			17		0	0	0.010504	0	0
NUP210L	91181	broad.mit.edu	37	1	154026785	154026785	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:154026785C>T	uc001fdw.3	-	24	3474	c.3402G>A	c.(3400-3402)ggG>ggA	p.G1134G	NUP210L_uc009woq.3_Silent_p.G43G|NUP210L_uc010peh.2_Silent_p.G1134G	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1134						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAACAATCTTCCCTGTAACTT	0.473000														45			31		0	0	0.009535	0	0
LAMA3	3909	broad.mit.edu	37	18	21526119	21526119	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:21526119C>T	uc002kuq.3	+	69	9308	c.9222C>T	c.(9220-9222)ggC>ggT	p.G3074G	LAMA3_uc002kur.3_Silent_p.G3018G|LAMA3_uc002kus.4_Silent_p.G1465G|LAMA3_uc002kut.4_Silent_p.G1409G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3074	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGTTTGGCCATGATGGGG	0.443000														87			16		0	0	0.006122	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311384	180311384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:180311384G>A	uc002unn.4	-	6	1388	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	ZNF385B_uc002unj.3_Missense_Mutation_p.P160S|ZNF385B_uc002unl.3_Missense_Mutation_p.P159S|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.P186S	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	262						nucleus	nucleic acid binding|zinc ion binding	p.S261A(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTCTTGGAGGGAGAAGTGGCT	0.463000														67			35		0	0	0.021022	0	0
ITGA4	3676	broad.mit.edu	37	2	182360652	182360652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:182360652C>T	uc002unu.3	+	13	2291	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	510					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAAGGAAGTTCCAGGTTACAT	0.423000														60			18		0	0	0.008871	0	0
ERO1L	30001	broad.mit.edu	37	14	53118997	53118997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:53118997G>A	uc001wzv.3	-	12	1305	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	362					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	p.N361D(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AGCAAAAAATGAATTCTCATC	0.279000														52			19		0	0	0.010504	0	0
KAT2A	2648	broad.mit.edu	37	17	40271325	40271325	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:40271325G>A	uc002hyx.2	-	5	1071	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	337					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTCCACTCGGAACTTTTCCA	0.567000														87			46		0	0	0.014410	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088187	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:17088187G>A	uc002nfb.3	-	14	1922	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCT	0.612000														56			38		0	0	0.006230	0	0
PROL1	58503	broad.mit.edu	37	4	71275451	71275451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:71275451C>T	uc003hfi.3	+	2	580	c.406C>T	c.(406-408)Cct>Tct	p.P136S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	136	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TATTTACCTTCCTATCTCTAA	0.438000														65			30		0	0	0.008361	0	0
LGR6	59352	broad.mit.edu	37	1	202283943	202283943	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:202283943G>A	uc001gxu.3	+	16	1581	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	LGR6_uc001gxv.3_Silent_p.L475L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.L388L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	527						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						ACCAGGACCTGGATGAGCTCC	0.562000														46			35		0	0	0.021022	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411703	105411703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:105411703G>A	uc010axc.1	-	6	10205	c.10085C>T	c.(10084-10086)tCt>tTt	p.S3362F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3262F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3362						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGGTCCACAGAAGGGAGCTG	0.672000														103			80		0	0	0.014410	0	0
POP4	10775	broad.mit.edu	37	19	30106215	30106215	+	Silent	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:30106215G>T	uc002nsf.2	+	6	647	c.591G>T	c.(589-591)ggG>ggT	p.G197G	POP4_uc002nsg.2_Silent_p.G116G	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	197					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ACATTTACGGGAGCAAATTCC	0.418000														30			13		4.3838e-07	4.4402e-07	0.016723	1	0
APOB	338	broad.mit.edu	37	2	21252650	21252650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:21252650C>T	uc002red.3	-	11	1606	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	493	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)	GCCCATATTTCCAATGACCTG	0.428000														441			165		0	0	0.014410	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511738	233511738	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233511738G>A	uc001hvt.4	+	6	2013	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	KIAA1804_uc001hvu.4_Silent_p.R30R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	584					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ATGTAAAAAGGAATTTTAAGA	0.348000														46			9		0	0	0.006214	0	0
SLFN13	146857	broad.mit.edu	37	17	33770934	33770934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33770934G>A	uc002hjk.1	-	1	1402	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	SLFN13_uc010wch.1_Missense_Mutation_p.P358S|SLFN13_uc002hjl.2_Missense_Mutation_p.P358S|SLFN13_uc002hjm.2_Missense_Mutation_p.P27S|SLFN13_uc010ctt.2_Missense_Mutation_p.P40S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	358						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)		AAGTCTGGAGGAAACTCTGAA	0.393000														22			17		0	0	0.004990	0	0
NUP210L	91181	broad.mit.edu	37	1	154090314	154090314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:154090314C>T	uc001fdw.3	-	11	1579	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.E503K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	503						integral to membrane		p.E503D(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACCACTGTTTCATTAGAAGAA	0.408000														41			43		0	0	0.011902	0	0
TARS2	80222	broad.mit.edu	37	1	150471505	150471505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:150471505G>A	uc001euq.3	+	11	1541	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.E430K|TARS2_uc009wlt.3_Missense_Mutation_p.E138K|TARS2_uc009wls.3_Missense_Mutation_p.E382K	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	512					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGACCAGGCCGAACAGGTGAG	0.562000														118			35		0	0	0.017118	0	0
TRPM6	140803	broad.mit.edu	37	9	77407591	77407591	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:77407591C>T	uc004ajl.1	-	18	2725	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	TRPM6_uc004ajk.1_Silent_p.R824R|TRPM6_uc022bib.1_Silent_p.R824R|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.	829					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						CATAGACTTTCCTGGTCCACG	0.398000														30			6		0	0	0.001984	0	0
KCNK1	3775	broad.mit.edu	37	1	233807082	233807082	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233807082C>T	uc010pxo.1	+	2	985	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	273						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)	ACTCCATGAGCTGAAAAAATT	0.443000														94			16		0	0	0.003163	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763562	92763562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:92763562C>T	uc003umh.1	-	4	2939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SAMD9L_uc003umj.1_Missense_Mutation_p.E575K|SAMD9L_uc003umi.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E575K|SAMD9L_uc003umk.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E575K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E575K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	575										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)			AACATATTTTCCATTCCTTTG	0.358000														48			22		0	0	0.014323	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862608	25862608	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:25862608C>T	uc003nfk.4	-	2	266	c.156G>A	c.(154-156)acG>acA	p.T52T	SLC17A3_uc003nfi.4_Silent_p.T52T|SLC17A3_uc011djz.1_Silent_p.T52T|SLC17A3_uc011dka.1_Silent_p.T52T	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	52					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTTGTGCTATCGTTGTGAAAT	0.413000														74			18		0	0	0.008871	0	0
HAUS5	23354	broad.mit.edu	37	19	36109915	36109915	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:36109915C>T	uc002oam.1	+	12	1194	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	381					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCTACAGGCCAAACAGCAGC	0.632000														33			15		0	0	0.004007	0	0
LOC642846	642846	broad.mit.edu	37	12	9463786	9463786	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:9463786G>A	uc001qvp.2	+	11		c.1012G>A			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		GTGGTTTCTGGAGGGGTGGTC	0.622000														33			25		0	0	0.007291	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795495	142795495	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:142795495C>T	uc004fbz.3	-	1	937	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	61										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTATTTTCGTATGCTTCC	0.443000														58			58		0	0	0.014410	0	0
FAM83B	222584	broad.mit.edu	37	6	54805757	54805757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:54805757G>A	uc003pck.3	+	4	2104	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	663								p.R662S(1)		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)					CTTAAAAGGCGAAGTTTCCCG	0.343000														59			23		0	0	0.004656	0	0
LCE2C	353140	broad.mit.edu	37	1	152648614	152648614	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152648614C>T	uc021ozc.1	+	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F	LCE2C_uc001fah.3_Silent_p.F41F	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	41	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCATGTTTCCCTGCAGTCT	0.627000														99			80		0	0	0.014410	0	0
PTGFR	5737	broad.mit.edu	37	1	79002193	79002193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:79002193C>T	uc001din.3	+	2	1167	c.901C>T	c.(901-903)Cct>Tct	p.P301S	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	301					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)	AATCTTAGATCCTTGGGTATA	0.393000														48			22		0	0	0.014323	0	0
OR8D2	283160	broad.mit.edu	37	11	124189235	124189235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:124189235G>A	uc010sah.2	-	0	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGATTAGAGGATTCAGCATG	0.433000														62			48		0	0	0.014410	0	0
MERTK	10461	broad.mit.edu	37	2	112786409	112786409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:112786409G>A	uc002thk.1	+	18	3090	c.2968G>A	c.(2968-2970)Gac>Aac	p.D990N	MERTK_uc002thl.1_Missense_Mutation_p.D814N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	990					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTTTGCTGACGACTCCTCAGA	0.507000														51			17		0	0	0.006122	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:103698526G>A	uc001vpy.4	-	5	1601	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000														33			22		0	0	0.018920	0	0
PPP2R3B	28227	broad.mit.edu	37	X	299624	299624	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:299624G>A	uc004cpg.3	-	10	1623	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	PPP2R3B_uc004cpf.3_Silent_p.I54I	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	453					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCAGCGTGATCTTCCCTG	0.607000														52			38		0	0	0.006999	0	0
GPATCH2	55105	broad.mit.edu	37	1	217784256	217784256	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:217784256G>A	uc001hlf.1	-	3	1089	c.993C>T	c.(991-993)ccC>ccT	p.P331P	GPATCH2_uc001hlg.4_Silent_p.P331P	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	331						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GTGACATAAGGGGAAAAGAAC	0.438000														81			11		0	0	0.010729	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059758	103059758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:103059758G>A	uc002tbx.3	+	7	1379	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	IL18RAP_uc010fiz.3_Missense_Mutation_p.E157K	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	299	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTAGAGTGGGAAGTCTCAGT	0.393000														38			24		0	0	0.018920	0	0
CTR9	9646	broad.mit.edu	37	11	10787958	10787958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:10787958G>A	uc001mja.3	+	12	1756	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	536					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308000														59			15		0	0	0.004007	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480675	19480675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:19480675G>A	uc002gvx.3	+	16	1608	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	SLC47A1_uc002gvy.1_Missense_Mutation_p.D508N|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Missense_Mutation_p.D206N|SLC47A1_uc010cqq.1_Missense_Mutation_p.D254N|SLC47A1_uc010vza.1_Missense_Mutation_p.D220N|SLC47A1_uc010vzb.1_Missense_Mutation_p.D183N|SLC47A1_uc010vzc.1_Missense_Mutation_p.D180N	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	508						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TTTAACGAACGATGTTGGAAA	0.443000														88			31		0	0	0.009535	0	0
CNKSR3	154043	broad.mit.edu	37	6	154533966	154533966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:154533966C>T	uc021zhc.1	-	18	2363	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.E29K|CNKSR3_uc003qpw.3_Missense_Mutation_p.E159K|CNKSR3_uc003qpx.3_Missense_Mutation_p.E158K|CNKSR3_uc010kjh.3_Missense_Mutation_p.E159K|CNKSR3_uc021zhd.1_Missense_Mutation_p.E203K|CNKSR3_uc021zhe.1_Missense_Mutation_p.E133K	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCTGGATCTTCCTGTTCACTT	0.418000														7			6		0	0	0.001168	0	0
COL5A3	50509	broad.mit.edu	37	19	10092784	10092784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:10092784C>T	uc002mmq.1	-	31	2503	c.2417G>A	c.(2416-2418)gGa>gAa	p.G806E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	806	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCGGGAAATCCAATAGATCC	0.537000														26			9		0	0	0.006214	0	0
KCNN4	3783	broad.mit.edu	37	19	44276176	44276176	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:44276176G>A	uc002oxl.3	-	3	1191	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	265					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	ACAGGCAGACGATCTTGCCCC	0.557000														53			23		0	0	0.004656	0	0
STAG3	10734	broad.mit.edu	37	7	99797259	99797259	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:99797259G>C	uc003utx.1	+	15	1824	c.1669G>C	c.(1669-1671)Ggg>Cgg	p.G557R	STAG3_uc010lgs.1_Missense_Mutation_p.G345R|STAG3_uc011kjk.1_Missense_Mutation_p.G499R|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	557					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)					CCGGGTCACTGGGAGGAAGGT	0.582000														13			6		0	0	0.003080	0	0
PRSS36	146547	broad.mit.edu	37	16	31152904	31152904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:31152904G>A	uc002ebd.3	-	11	1846	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	PRSS36_uc010vff.2_Missense_Mutation_p.P371L|PRSS36_uc010vfg.2_Missense_Mutation_p.P591L|PRSS36_uc010vfh.2_Missense_Mutation_p.P596L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	596	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCCCACTGGAGCAGCCTC	0.682000														34			23		0	0	0.014323	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47978993	47978993	+	RNA	SNP	G	A	A	rs77470044	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:47978993G>A	uc022bvt.1	+	6		c.616G>A				NM_001205103		B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										AGAGATCAGCGACCCTGAGGA	0.498000														167			155		0	0	0.014410	0	0
FAM47C	442444	broad.mit.edu	37	X	37029029	37029029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:37029029C>T	uc004ddl.2	+	0	2598	c.2546C>T	c.(2545-2547)tCg>tTg	p.S849L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	849										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACACACATCGAGAAAACTC	0.468000														61			39		0	0	0.008740	0	0
DDX41	51428	broad.mit.edu	37	5	176943935	176943935	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:176943935C>T	uc003mho.3	-	0	33	c.12G>A	c.(10-12)tcG>tcA	p.S4S	DDX41_uc003mhn.3_5'Flank|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	4					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTTCGGGTTCCGACTCCTCCA	0.662000														32			10		0	0	0.008291	0	0
RFFL	117584	broad.mit.edu	37	17	33443910	33443910	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33443910G>A	uc010wcd.1	-	2	547	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RFFL_uc002hiq.2_Intron|RFFL_uc002hir.2_Intron|RFFL_uc010wce.1_5'UTR|RFFL_uc002hit.2_Intron|RFFL_uc002hiu.2_Intron|RFFL_uc002his.2_Intron|RFFL_uc010ctk.2_Intron|RFFL_uc010wcf.1_Intron|RFFL_uc002hiw.1_Non-coding_Transcript|RFFL_uc002hiv.1_Intron|RFFL_uc010ctl.1_Non-coding_Transcript|RFFL_uc010ctm.1_Intron	NM_001142571	NP_001136043	Q8WZ73	RFFL_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 6, mRNA.	0					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ctcgttcatcgaaagcattca	0.493000														7			3		0	0	0.004672	0	0
STAB2	55576	broad.mit.edu	37	12	104046342	104046342	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:104046342G>A	uc001tjw.3	+	11	1452	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	422	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGTAAATGAGCTTTTGGTGG	0.328000														15			9		0	0	0.008291	0	0
POTEC	388468	broad.mit.edu	37	18	14542924	14542924	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:14542924C>T	uc010dln.3	-	0	676	c.222G>A	c.(220-222)ggG>ggA	p.G74G	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	74										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTGCCGCTCCCCCTGCAGC	0.567000														236			27		0	0	0.005443	0	0
ASH1L	55870	broad.mit.edu	37	1	155429661	155429661	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:155429661G>A	uc009wqq.3	-	3	5493	c.5013C>T	c.(5011-5013)tcC>tcT	p.S1671S	ASH1L_uc001fkt.3_Silent_p.S1671S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1671	Ser-rich.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGGCCGCTGGGAGGGTTTAT	0.403000														55			27		0	0	0.008361	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063526	48063526	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:48063526C>T	uc010bek.3	+	18	3126	c.2766C>T	c.(2764-2766)gtC>gtT	p.V922V	SEMA6D_uc001zvw.3_Silent_p.V860V|SEMA6D_uc001zvy.3_Silent_p.V922V|SEMA6D_uc001zvz.3_Silent_p.V866V|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Silent_p.V860V|SEMA6D_uc001zwc.3_Silent_p.V847V	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	922					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACCTAAAGTCCCTAACCGGG	0.532000														88			26		0	0	0.005443	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047346	75047346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:75047346G>A	uc002ayr.1	+	6	1532	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	490					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CGTGAAAGTCGACCTGACCCC	0.602000														73			25		0	0	0.018920	0	0
NFXL1	152518	broad.mit.edu	37	4	47907343	47907343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:47907343C>T	uc010igh.3	-	3	604	c.427G>A	c.(427-429)Gag>Aag	p.E143K	NFXL1_uc003gxp.3_Missense_Mutation_p.E143K|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.E143K	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	143						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTGTTCGCTCTAATTCACGT	0.348000														56			20		0	0	0.008871	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631965	156631965	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:156631965C>T	uc003iov.3	+	6	1184	c.648C>T	c.(646-648)ccC>ccT	p.P216P	GUCY1A3_uc003iou.2_Silent_p.P216P|GUCY1A3_uc010iqc.2_Silent_p.P216P|GUCY1A3_uc010iqd.3_Silent_p.P215P|GUCY1A3_uc003iow.3_Silent_p.P216P|GUCY1A3_uc003iox.3_Silent_p.P216P|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.P216P|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.P216P	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	216					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGATTCTTCCCGGCATCATAA	0.463000														48			22		0	0	0.021523	0	0
RASEF	158158	broad.mit.edu	37	9	85627360	85627360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:85627360C>T	uc004amo.1	-	4	1093	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	278					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTGATAAATCATAAATTTGT	0.363000														22			6		0	0	0.001984	0	0
ARID4B	51742	broad.mit.edu	37	1	235346091	235346091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:235346091C>T	uc021pks.1	-	19	2520	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	ARID4B_uc001hwq.3_Missense_Mutation_p.E715K|ARID4B_uc001hwr.3_Missense_Mutation_p.E629K|ARID4B_uc001hws.4_Missense_Mutation_p.E629K|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.E396K	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCACTGTCTTCAGCAGAACTT	0.363000														35			45		0	0	0.014410	0	0
STAC	6769	broad.mit.edu	37	3	36526476	36526476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:36526476G>A	uc003cgh.1	+	3	536	c.497G>A	c.(496-498)gGg>gAg	p.G166E	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	166					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAGCCAAAGGGGTTTCGGCGT	0.463000														34			14		0	0	0.003163	0	0
CXorf36	79742	broad.mit.edu	37	X	45010966	45010966	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:45010966C>A	uc004dgg.2	-	4	1308	c.1233G>T	c.(1231-1233)agG>agT	p.R411S		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	411						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TTCTCAGGGGCCTCAAGATGT	0.532000														52			35		1.22674e-20	1.25723e-20	0.008740	1	0
ATAD2B	54454	broad.mit.edu	37	2	24021187	24021187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:24021187G>A	uc002rek.4	-	18	2757	c.2461C>T	c.(2461-2463)Cgt>Tgt	p.R821C	ATAD2B_uc002rei.4_Missense_Mutation_p.R821C|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	821							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGCTTCACGAAAAATCTAA	0.363000														20			10		0	0	0.008291	0	0
NAV2	89797	broad.mit.edu	37	11	19955584	19955584	+	Silent	SNP	C	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:19955584C>G	uc010rdm.2	+	7	2224	c.1863C>G	c.(1861-1863)ctC>ctG	p.L621L	NAV2_uc001mpp.3_Silent_p.L534L|NAV2_uc001mpr.4_Silent_p.L598L|NAV2_uc021qew.1_Silent_p.L598L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	621						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTCAGGACTCCCCCAGCAGA	0.617000														34			17		0	0	0.007413	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418651	105418651	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:105418651A>C	uc010axc.1	-	6	3257	c.3137T>G	c.(3136-3138)cTc>cGc	p.L1046R	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L946R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1046						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGAATGCTGAGGTCAGTGGT	0.617000														79			55		0	0	0.014410	0	0
ARSA	410	broad.mit.edu	37	22	51065360	51065360	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:51065360G>A	uc003bna.4	-	2	590	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	ARSA_uc021wsd.1_Silent_p.L196L|ARSA_uc021wse.1_Silent_p.L196L|ARSA_uc021wsf.1_Silent_p.L196L|ARSA_uc003bmz.4_Silent_p.L194L|ARSA_uc010hbf.3_3'UTR	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	194						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	AGTCCGGGCAGCCAGGGGGGC	0.672000														86			34		0	0	0.013726	0	0
DNAH5	1767	broad.mit.edu	37	5	13839571	13839571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13839571C>T	uc003jfd.2	-	34	5818	c.5776G>A	c.(5776-5778)Gaa>Aaa	p.E1926K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1926	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAATCTTCGTTAAAGTAA	0.383000									Kartagener syndrome					50			22		0	0	0.014323	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700509	41700509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:41700509G>A	uc002opw.3	+	1	293	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	80					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCCTGTGGTGGTCCTGGTTGG	0.627000														39			13		0	0	0.013537	0	0
SPATA21	374955	broad.mit.edu	37	1	16736178	16736178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:16736178C>T	uc001ayn.3	-	5	988	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.G146S	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	169	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGGGCAGGGCCCAGCAGGACA	0.697000														18			11		0	0	0.016723	0	0
PPM1N	147699	broad.mit.edu	37	19	46003763	46003763	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:46003763G>A	uc002pce.3	+	2	1107	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	PPM1N_uc002pcf.3_Silent_p.R51R	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.	369							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CAGTTTTCAGGACTCTGGCCT	0.582000														16			7		0	0	0.003080	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289353	132289353	+	Missense_Mutation	SNP	C	T	T	rs145934024		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:132289353C>T	uc002tta.3	+	3	713	c.661C>T	c.(661-663)Cct>Tct	p.P221S	CCDC74A_uc002ttb.3_Missense_Mutation_p.P155S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P221S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P263S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	221								p.P221S(2)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACAAAGTTCCTGGGGTACA	0.577000														22			43		0	0	0.014410	0	0
OR4C13	283092	broad.mit.edu	37	11	49974176	49974176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:49974176G>A	uc010rhz.2	+	0	234	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTTTATTGATGCCTGCTA	0.438000														174			55		0	0	0.014410	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919569	12919569	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12919569G>A	uc001aum.1	+	2	396	c.309G>A	c.(307-309)ctG>ctA	p.L103L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	103										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAAGTGCTGGATTTGCGGG	0.517000														211			101		0	0	0.014410	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11859513	11859513	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:11859513A>C	uc002dbk.3	-	12	1749	c.1551T>G	c.(1549-1551)taT>taG	p.Y517*	ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Nonsense_Mutation_p.Y517*|ZC3H7A_uc002dbm.2_Nonsense_Mutation_p.Y427*	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	517						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGTGGCCTGAATATCTACATT	0.502000														31			30		0	0	0.008361	0	0
CTU2	348180	broad.mit.edu	37	16	88780099	88780099	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:88780099C>T	uc010chz.3	+	8	1179	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P	CTU2_uc002flm.3_Silent_p.P306P|CTU2_uc002fln.3_Silent_p.P306P|CTU2_uc010cia.3_Silent_p.P219P	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	306					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TGGTGCGGCCCATGCGGGACC	0.647000														70			27		0	0	0.004656	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285397	44285397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:44285397C>T	uc010qfe.1	-	0	469	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CCGTACTTTTCAAAGTAGTCT	0.363000														13			15		0	0	0.003163	0	0
NLRC5	84166	broad.mit.edu	37	16	57093400	57093400	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:57093400C>T	uc021tiu.1	+	28	4069	c.3942C>T	c.(3940-3942)ttC>ttT	p.F1314F	NLRC5_uc021tiv.1_Silent_p.F1118F|NLRC5_uc021tiw.1_Silent_p.F1088F|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.F201F	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1314					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCAGAGCTTCCGGATTCACT	0.622000														19			4		0	0	0.009096	0	0
CDH17	1015	broad.mit.edu	37	8	95158288	95158288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:95158288G>A	uc003ygh.2	-	14	2160	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	CDH17_uc011lgo.1_Missense_Mutation_p.P465S|CDH17_uc011lgp.1_Missense_Mutation_p.P679S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	679	Cadherin 7.					integral to membrane	calcium ion binding	p.P679T(2)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCACTGAGGGGATGGCAGAAG	0.502000														36			11		0	0	0.008291	0	0
MICAL3	57553	broad.mit.edu	37	22	18354649	18354649	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:18354649G>A	uc002zng.4	-	16	2735	c.2382C>T	c.(2380-2382)tgC>tgT	p.C794C	MICAL3_uc011agl.2_Silent_p.C794C|MICAL3_uc002znh.2_Silent_p.C794C|MICAL3_uc002znj.1_Silent_p.C522C|MICAL3_uc002znk.1_Silent_p.C794C|MICAL3_uc002znl.1_Silent_p.C427C|MICAL3_uc002znm.3_Silent_p.C295C|MICAL3_uc010grf.3_Silent_p.C918C	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	794	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGTGGTGGCGCAGTACTCGC	0.607000														9			4		0	0	0.001168	0	0
NEK9	91754	broad.mit.edu	37	14	75587839	75587839	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:75587839T>A	uc001xrl.3	-	2	590	c.436A>T	c.(436-438)Aag>Tag	p.K146*		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	146	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCAAACAACTTGTCCTTCTGA	0.363000														22			12		0	0	0.010729	0	0
BC035867	0	broad.mit.edu	37	22	20977008	20977008	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:20977008G>A	uc002zsv.3	-	4		c.1527C>T								Homo sapiens, clone IMAGE:5171202, mRNA.																		TCCCAGGGTCGAGAAATTCCA	0.502000														18			6		0	0	0.001984	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001430	52001430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:52001430C>T	uc002pwx.1	-	4	1303	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G298E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G143E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	416	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding	p.W415*(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTCAGGCTCCCCCAGGTCCA	0.622000														52			19		0	0	0.008871	0	0
DECR1	1666	broad.mit.edu	37	8	91057137	91057137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:91057137C>T	uc003yek.1	+	7	940	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	DECR1_uc011lgc.1_Missense_Mutation_p.P258S|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	267					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGCAGAATTCCCTGTGGTCG	0.423000														95			30		0	0	0.008361	0	0
MYO18B	84700	broad.mit.edu	37	22	26423626	26423626	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:26423626G>A	uc003abz.1	+	42	7936	c.7686G>A	c.(7684-7686)aaG>aaA	p.K2562K	MYO18B_uc003aca.1_Silent_p.K2443K|MYO18B_uc010guy.1_Silent_p.K2444K|MYO18B_uc010guz.1_Silent_p.K2442K|MYO18B_uc011aka.1_Silent_p.K1716K|MYO18B_uc011akb.1_Silent_p.K2075K|MYO18B_uc010gva.1_Silent_p.K545K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2562						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						GCATAATGAAGAAATACCTCC	0.567000														18			7		0	0	0.003080	0	0
AK302879	0	broad.mit.edu	37	15	76074431	76074431	+	Missense_Mutation	SNP	C	T	T	rs149323153	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:76074431C>T	uc010umm.1	+	7	610	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000														58			15		0	0	0.010504	0	0
JAG1	182	broad.mit.edu	37	20	10621857	10621857	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:10621857C>T	uc002wnw.2	-	23	3468	c.2952G>A	c.(2950-2952)agG>agA	p.R984R		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	984					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TATTCAAATTCCTCAATTCAC	0.393000									Alagille Syndrome					53			17		0	0	0.004007	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64538006	64538006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:64538006G>A	uc003jtp.3	-	14	2672	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.R241*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	620					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGTTTCTCTCGAAAATCTCGG	0.378000														41			28		0	0	0.005443	0	0
ANKRD42	338699	broad.mit.edu	37	11	82951905	82951905	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:82951905A>T	uc010rsv.1	+	8	1546	c.1124A>T	c.(1123-1125)cAt>cTt	p.H375L	ANKRD42_uc001ozz.1_Missense_Mutation_p.H347L|ANKRD42_uc001paa.3_Missense_Mutation_p.H375L|ANKRD42_uc001pab.1_Missense_Mutation_p.H374L			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	347										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTATAAGACATGGTGTTGAG	0.378000														60			26		0	0	0.004656	0	0
ACO2	50	broad.mit.edu	37	22	41895859	41895859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:41895859C>T	uc003bac.3	+	1	188	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	56					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.R56H(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TAACATTGTTCGCAAACGGTA	0.542000														131			64		0	0	0.014410	0	0
KIF4B	285643	broad.mit.edu	37	5	154394176	154394176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:154394176G>A	uc010jih.1	+	0	917	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	253	Kinesin-motor.				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)			AACCAAGGCTGAAGGGGATCG	0.428000														61			24		0	0	0.018920	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048421	42048421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:42048421G>A	uc001cgz.4	-	3	3261	c.2048C>T	c.(2047-2049)cCa>cTa	p.P683L	HIVEP3_uc001cha.4_Missense_Mutation_p.P683L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	683	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCAGCTTCTGGAGATGTGTG	0.498000														81			38		0	0	0.008740	0	0
MUC16	94025	broad.mit.edu	37	19	9005651	9005651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9005651C>T	uc002mkp.3	-	45	39959	c.39755G>A	c.(39754-39756)aGa>aAa	p.R13252K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R69K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13254	SEA 8.				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						TAGCTGCTGTCTGTCTAGCCC	0.592000														92			27		0	0	0.007291	0	0
SCRIB	23513	broad.mit.edu	37	8	144895852	144895852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144895852G>A	uc003yzp.1	-	3	408	c.401C>T	c.(400-402)gCc>gTc	p.A134V	SCRIB_uc003yzo.1_Missense_Mutation_p.A134V|MIR937_uc022bck.1_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	134	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATCATTCAGGGCCAGGTGAGC	0.642000														30			17		0	0	0.007413	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367213	234367213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:234367213G>A	uc001hvy.1	+	2	479	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SLC35F3_uc001hwa.1_Missense_Mutation_p.A43T	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	43					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCAGGCACCGGCCGGGGTGGA	0.736000														31			16		0	0	0.007413	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364537	142364537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:142364537C>T	uc003vzx.3	+	1	206	c.172C>T	c.(172-174)Cca>Tca	p.P58S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCGACAAGACCCAGGACTGGG	0.453000														24			6		0	0	0.001984	0	0
KRT16	3868	broad.mit.edu	37	17	39767645	39767645	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:39767645G>A	uc002hxg.4	-	2	862	c.723C>T	c.(721-723)atC>atT	p.I241I	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	241	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCAGGCCTTCGATCTGCATCT	0.637000														77			51		0	0	0.014410	0	0
PRPF8	10594	broad.mit.edu	37	17	1558786	1558786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:1558786G>A	uc002fte.3	-	36	5959	c.5845C>T	c.(5845-5847)Cgg>Tgg	p.R1949W		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1949	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTTTTGCCCGATCGTTGTTC	0.517000														46			70		0	0	0.014410	0	0
TGM6	343641	broad.mit.edu	37	20	2375937	2375937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:2375937G>A	uc002wfy.1	+	2	340	c.279G>A	c.(277-279)atG>atA	p.M93I	TGM6_uc010gal.1_Missense_Mutation_p.M93I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	93					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)	AGGCTCAGATGGAGAAAACTC	0.612000														31			17		0	0	0.004007	0	0
C21orf59	56683	broad.mit.edu	37	21	33982302	33982302	+	Silent	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:33982302T>C	uc002ypy.2	-	1	518	c.153A>G	c.(151-153)ttA>ttG	p.L51L	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypz.2_Silent_p.L51L|C21orf59_uc002yqc.3_Silent_p.L51L|C21orf59_uc010glx.3_5'UTR|C21orf59_uc002yqb.4_Silent_p.L51L|C21orf59_uc011adr.2_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	51						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CATGTTCGGCTAATTCTTCCA	0.403000														26			15		0	0	0.004007	0	0
PPARA	5465	broad.mit.edu	37	22	46614265	46614265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:46614265C>T	uc003bhb.1	+	3	598	c.475C>T	c.(475-477)Cac>Tac	p.H159Y	PPARA_uc003bgw.1_Missense_Mutation_p.H159Y|PPARA_uc003bgx.1_Missense_Mutation_p.H159Y|PPARA_uc010hab.1_Missense_Mutation_p.H159Y|PPARA_uc003bha.3_Missense_Mutation_p.H159Y|PPARA_uc010hac.1_Silent_p.F23F	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	159					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TTGTCGATTTCACAAGTGCCT	0.498000														109			60		0	0	0.014410	0	0
TRPM1	4308	broad.mit.edu	37	15	31294925	31294925	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:31294925G>A	uc021sia.1	-	26	4343	c.4029C>T	c.(4027-4029)ttC>ttT	p.F1343F	TRPM1_uc010azy.3_Silent_p.F1211F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F1326F|TRPM1_uc001zfm.3_Silent_p.F1304F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1304					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCTTTATACGGAAGGAACAGG	0.453000														78			26		0	0	0.005443	0	0
MRPS28	28957	broad.mit.edu	37	8	80831226	80831226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:80831226G>A	uc003ybp.3	-	2	576	c.553C>T	c.(553-555)Cat>Tat	p.H185Y	TPD52_uc010lzr.3_Non-coding_Transcript	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	Homo sapiens mitochondrial ribosomal protein S28 (MRPS28), nuclear gene encoding mitochondrial protein, mRNA.	185						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			TATTTTTCATGATGTTCTTCT	0.363000														55			30		0	0	0.019004	0	0
SACS	26278	broad.mit.edu	37	13	23906647	23906647	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:23906647G>A	uc001uon.2	-	9	11957	c.11368C>T	c.(11368-11370)Cag>Tag	p.Q3790*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q3643*|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.	3790					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)		CCTCGCAACTGAAAACGAAAT	0.383000														39			18		0	0	0.007413	0	0
NBEA	26960	broad.mit.edu	37	13	35684971	35684971	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:35684971T>A	uc021rid.1	+	12	2392	c.1858T>A	c.(1858-1860)Ttg>Atg	p.L620M	NBEA_uc021ric.1_Missense_Mutation_p.L620M	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	620						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATACACATATTTGTCTGCTGA	0.333000														22			7		0	0	0.003080	0	0
SGCG	6445	broad.mit.edu	37	13	23808834	23808834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:23808834G>A	uc001uom.2	+	2	435	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SGCG_uc009zzv.2_Missense_Mutation_p.E94K|SGCG_uc009zzw.2_Missense_Mutation_p.E94K	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	94					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GTATGCCAAAGAAATACACTC	0.333000														60			22		0	0	0.016522	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:55932118C>T	uc003pcs.3	-	22	2334	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_uc010jzz.3_Missense_Mutation_p.G86E|COL21A1_uc011dxg.2_Intron|COL21A1_uc011dxh.2_Missense_Mutation_p.G86E|COL21A1_uc003pcr.3_Missense_Mutation_p.E59K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	701	Collagen-like 4.				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)			ACCTTGATTTCCTTTGTCCCC	0.299000														32			12		0	0	0.016723	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455134	187455134	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:187455134C>T	uc003izd.1	-	1	780	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	254					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)	CAATGAAGTTCAGAGGAGCCC	0.507000														31			47		0	0	0.010771	0	0
LPAR2	9170	broad.mit.edu	37	19	19737823	19737823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:19737823G>A	uc002nnb.4	-	1	410	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	LPAR2_uc002nna.4_Missense_Mutation_p.H91Y|LPAR2_uc002nnc.4_Missense_Mutation_p.H91Y	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA.	91					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGACCAGTGTGGAACATGAGG	0.652000														13			3		0	0	0.009096	0	0
ZNF831	128611	broad.mit.edu	37	20	57768949	57768949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:57768949G>A	uc002yan.3	+	0	2875	c.2875G>A	c.(2875-2877)Gga>Aga	p.G959R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	959						intracellular	nucleic acid binding|zinc ion binding	p.W958C(1)		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)					CATTCCCTGGGGACCAAGGCA	0.592000														93			24		0	0	0.006320	0	0
FAM110B	90362	broad.mit.edu	37	8	59058929	59058929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:59058929G>A	uc022auu.1	+	0	140	c.140G>A	c.(139-141)aGg>aAg	p.R47K	FAM110B_uc003xtj.1_Missense_Mutation_p.R47K	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	47						microtubule organizing center|mitochondrion|nucleus		p.K46K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				AACCCCAAGAGGCTCAGCGCC	0.672000														24			10		0	0	0.008291	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915878	39915878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:39915878G>A	uc010xuz.2	+	18	4430	c.4105G>A	c.(4105-4107)Gaa>Aaa	p.E1369K	PLEKHG2_uc010xuy.2_Splice_Site_p.R1191_splice|PLEKHG2_uc002olj.3_Splice_Site_p.E560_splice|PLEKHG2_uc010xva.2_Missense_Mutation_p.E1147K	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1369					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCACACAGGAATCTATGGG	0.632000														34			12		0	0	0.013537	0	0
LRRC47	57470	broad.mit.edu	37	1	3699293	3699293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:3699293G>A	uc001akx.1	-	4	1373	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	449					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACAAGACACGGGTAATTTTCA	0.443000														74			28		0	0	0.007291	0	0
C6orf118	168090	broad.mit.edu	37	6	165706919	165706919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:165706919G>A	uc003qum.4	-	5	1139	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	368								p.Q367Q(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCCTTTGCAGACTGCAGCAA	0.453000														72			46		0	0	0.014410	0	0
ARID1B	57492	broad.mit.edu	37	6	157527627	157527627	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:157527627C>T	uc003qqp.3	+	18	5313	c.5313C>T	c.(5311-5313)ttC>ttT	p.F1771F	ARID1B_uc003qqo.3_Silent_p.F1784F|ARID1B_uc003qqn.3_Silent_p.F1824F	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1771					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAGTAAGTTCGACAAGCTGC	0.512000														44			51		0	0	0.014410	0	0
GLYAT	10249	broad.mit.edu	37	11	58491920	58491920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:58491920G>A	uc001nnb.3	-	1	205	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GLYAT_uc001nnc.3_Missense_Mutation_p.S17F	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17			S -> T (in dbSNP:rs10896818).		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)	CTTCCTCAAGGATTTCTCCAG	0.448000														120			40		0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	68965427	68965427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:68965427G>A	uc003xxv.1	+	8	1066	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	PREX2_uc003xxu.1_Missense_Mutation_p.E347K|PREX2_uc011lez.1_Missense_Mutation_p.E282K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	347	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAAACACCTGAAGAGAAGCA	0.388000														40			17		0	0	0.004990	0	0
DNAH7	56171	broad.mit.edu	37	2	196746717	196746717	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:196746717C>T	uc002utj.4	-	36	5865	c.5764_splice	c.e36-1	p.G1922_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1922					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCTATTCCCTGTTTATAAT	0.338000														15			8		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9083906	9083906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9083906C>T	uc002mkp.3	-	0	8113	c.7909G>A	c.(7909-7911)Gga>Aga	p.G2637R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2637	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						AAGGAAGCTCCAGACAGAGTC	0.478000														26			8		0	0	0.003080	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904374	73904374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:73904374C>T	uc011dyh.2	+	14	2440	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	KCNQ5_uc011dyi.2_Missense_Mutation_p.S689L|KCNQ5_uc010kat.3_Missense_Mutation_p.S670L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S679L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S569L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S429L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	679					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTATCCAGATCAACTAGTGCC	0.478000														44			47		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179444756	179444756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179444756C>T	uc021vsy.1	-	266	59779	c.59554G>A	c.(59554-59556)Gag>Aag	p.E19852K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13547K|TTN_uc021vta.1_Missense_Mutation_p.E13480K|TTN_uc021vtb.1_Missense_Mutation_p.E13355K|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20779	Ig-like 110.						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)			GATTTTCCCTCCTCCAAATTA	0.438000														99			47		0	0	0.014410	0	0
ABCD3	5825	broad.mit.edu	37	1	94956753	94956754	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:94956753_94956754CC>TT	uc010oto.2	+	16	1510_1511	c.1408_1409CC>TT	c.(1408-1410)cct>TTt	p.P470F	ABCD3_uc001dqn.4_Missense_Mutation_p.P446F|ABCD3_uc010otp.2_Missense_Mutation_p.P373F|ABCD3_uc009wdr.3_Missense_Mutation_p.P336F|ABCD3_uc001dqo.4_Missense_Mutation_p.P134F	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	446	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGATCATGTTCCTTTAGCAACG	0.267000														30			15		0	0	0.004672	0	0
MYO3B	140469	broad.mit.edu	37	2	171371487	171371487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:171371487G>A	uc002ufy.3	+	28	3570	c.3427G>A	c.(3427-3429)Gga>Aga	p.G1143R	MYO3B_uc002ufv.3_Missense_Mutation_p.G1130R|MYO3B_uc010fqb.1_Missense_Mutation_p.G1143R|MYO3B_uc002ufz.3_Missense_Mutation_p.G1116R|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1143					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGGTACGAGGGGAAGTGCCGA	0.502000														38			16		0	0	0.006122	0	0
UIMC1	51720	broad.mit.edu	37	5	176396036	176396036	+	Silent	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:176396036A>G	uc021yil.1	-	5	887	c.720T>C	c.(718-720)ggT>ggC	p.G240G	UIMC1_uc021yim.1_Silent_p.G240G|UIMC1_uc021yin.1_Silent_p.G240G|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	240					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAAAGCAGAACCCCTCCCAG	0.527000														77			44		0	0	0.014410	0	0
DTX1	1840	broad.mit.edu	37	12	113496249	113496249	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:113496249G>A	uc001tuk.1	+	0	588	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	84	WWE 1.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGTTTCGCCAGGACACAGGTG	0.612000														41			31		0	0	0.009535	0	0
TNR	7143	broad.mit.edu	37	1	175328850	175328850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:175328850C>T	uc001gkp.1	-	12	2953	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N	TNR_uc009wwu.1_Missense_Mutation_p.D958N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	958	Fibronectin type-III 8.				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)					GCAATCAGATCCACAGGGTTG	0.463000														26			24		0	0	0.004656	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														62			7		0	0	0.004482	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417482	150417482	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:150417482G>A	uc003whq.3	+	2	530	c.390G>A	c.(388-390)caG>caA	p.Q130Q	GIMAP1-GIMAP5_uc022apw.1_Silent_p.Q130Q	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		AGGACCAGCAGGCGGTGAGGC	0.657000														43			19		0	0	0.006122	0	0
MPP7	143098	broad.mit.edu	37	10	28409259	28409259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:28409259C>T	uc001iua.1	-	11	1155	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E251K|MPP7_uc009xla.2_Missense_Mutation_p.E251K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	251	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGCCCAGCTTCCTTACATGGA	0.383000														72			15		0	0	0.004990	0	0
UGT1A1	54658	broad.mit.edu	37	2	234680923	234680923	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:234680923C>T	uc002vuw.3	+	4	1323	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	UGT1A1_uc002vup.3_Silent_p.I437I|UGT1A1_uc002vur.3_Silent_p.I437I|UGT1A1_uc002vus.3_Silent_p.I437I|UGT1A1_uc002vut.3_Silent_p.I437I|UGT1A1_uc002vuu.3_Silent_p.I172I|UGT1A1_uc002vuv.4_Silent_p.I439I|UGT1A1_uc002vux.3_Silent_p.I441I|UGT1A1_uc002vuy.3_Silent_p.I441I|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.I440I	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	440					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGGAGAACATCATGCGCCTCT	0.537000														37			8		0	0	0.003080	0	0
LEMD3	23592	broad.mit.edu	37	12	65634721	65634721	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:65634721T>C	uc001ssl.2	+	8	2185	c.2159T>C	c.(2158-2160)gTt>gCt	p.V720A	LEMD3_uc009zqo.2_Missense_Mutation_p.V719A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	720	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GATAGAGCTGTTGACTTCCTT	0.408000														15			18		0	0	0.008871	0	0
NLRP11	204801	broad.mit.edu	37	19	56321367	56321367	+	Silent	SNP	G	A	A	rs149856648		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:56321367G>A	uc010ygf.2	-	4	1320	c.609C>T	c.(607-609)atC>atT	p.I203I	NLRP11_uc002qlz.3_Silent_p.I104I|NLRP11_uc002qmb.3_Silent_p.I104I|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	203	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTCCTTGGCGATTAGCTCAG	0.512000														27			17		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9064452	9064452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9064452G>A	uc002mkp.3	-	2	23198	c.22994C>T	c.(22993-22995)tCc>tTc	p.S7665F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7667	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						TCTGCCCATGGAAGTGGTCAT	0.522000														30			13		0	0	0.013537	0	0
FPR3	2359	broad.mit.edu	37	19	52327420	52327420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:52327420G>A	uc002pxt.1	+	1	603	c.419G>A	c.(418-420)aGt>aAt	p.S140N	FPR3_uc021uyq.1_Missense_Mutation_p.S140N	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	140					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CGCACCATGAGTCTGGCCAAG	0.488000														34			19		0	0	0.008871	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672569	3672569	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:3672569G>A	uc002wja.3	-	15	4311	c.4311C>T	c.(4309-4311)atC>atT	p.I1437I	SIGLEC1_uc002wiz.4_Silent_p.I1437I|SIGLEC1_uc002wjb.1_Silent_p.I76I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1437	Ig-like C2-type 14.				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						GCAACCGCCCGATGGTGCTGA	0.592000														81			18		0	0	0.008871	0	0
FAM5B	57795	broad.mit.edu	37	1	177250510	177250510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:177250510C>T	uc001glf.3	+	7	2510	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	FAM5B_uc001glg.3_Missense_Mutation_p.P628L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	733						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTTTCTCCACCTGGCAAAGTC	0.542000														88			24		0	0	0.018920	0	0
POF1B	79983	broad.mit.edu	37	X	84634306	84634306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:84634306C>T	uc004eer.2	-	1	300	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	POF1B_uc004ees.3_Missense_Mutation_p.V52M	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	52							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						TAGGTCCTCACTCGCTCATAC	0.567000														17			10		0	0	0.008291	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558700	113558700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:113558700C>T	uc010ljy.1	-	0	383	c.352G>A	c.(352-354)Gat>Aat	p.D118N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	118					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGCATAAGATCTTCTTTTGAA	0.393000														36			15		0	0	0.003163	0	0
DHX36	170506	broad.mit.edu	37	3	154042118	154042118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:154042118G>A	uc003ezy.4	-	0	169	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	DHX36_uc010hvq.3_Missense_Mutation_p.H30Y|DHX36_uc003ezz.4_Missense_Mutation_p.H30Y	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	30	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACCTCCATGACCCCCTGCT	0.697000														17			10		0	0	0.008291	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105204	75105204	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:75105204G>A	uc002ayt.1	+	0	11	c.9G>A	c.(7-9)gcG>gcA	p.A3A	LMAN1L_uc010bkd.2_Splice_Site|LMAN1L_uc010ulo.1_Splice_Site|LMAN1L_uc010bke.1_Silent_p.A3A	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	3						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGATGCCGGCGGTCAGTGGTC	0.647000														57			45		0	0	0.013114	0	0
KRT12	3859	broad.mit.edu	37	17	39019761	39019761	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:39019761G>A	uc002hvk.2	-	4	1095	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	357	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACTGTAGCTCGATCTCCAGGT	0.552000														36			13		0	0	0.020292	0	0
C1orf173	127254	broad.mit.edu	37	1	75038269	75038269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:75038269C>T	uc001dgg.3	-	13	3344	c.3125G>A	c.(3124-3126)aGg>aAg	p.R1042K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1042	Glu-rich.									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						ATCATCTTCCCTATTAGCTTC	0.468000														139			42		0	0	0.010771	0	0
INPP5B	3633	broad.mit.edu	37	1	38343860	38343860	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:38343860C>T	uc001ccf.1	-	10	1222	c.1185_splice	c.e10+1	p.G395_splice	INPP5B_uc009vvk.1_Splice_Site_p.G500_splice|INPP5B_uc001ccg.1_Splice_Site_p.G559_splice|INPP5B_uc010oij.1_Splice_Site	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	639					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCCACCTACCCCGATGTCAA	0.483000														67			16		0	0	0.003163	0	0
TRRAP	8295	broad.mit.edu	37	7	98609157	98609157	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:98609157A>G	uc003upp.3	+	71	11504	c.11295_splice	c.e71+1	p.K3765_splice	TRRAP_uc011kis.2_Splice_Site_p.K3736_splice|TRRAP_uc003upr.3_Splice_Site_p.K3471_splice|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3765	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAAACTTTAAGGTGGGTCTC	0.622000														53			11		0	0	0.008291	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830144	7830144	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:7830144C>T	uc010dvt.3	+	2	322	c.204C>T	c.(202-204)atC>atT	p.I68I	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Silent_p.I68I|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Silent_p.I67I|CLEC4M_uc010xjx.2_Silent_p.I40I|CLEC4M_uc002mhz.3_Silent_p.I68I|CLEC4M_uc002mic.3_Silent_p.I40I|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	68					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGTGGCCATCCTTGTCCAAG	0.622000														71			35		0	0	0.017118	0	0
CNTN5	53942	broad.mit.edu	37	11	100168359	100168359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:100168359C>T	uc001pga.3	+	18	2821	c.2317C>T	c.(2317-2319)Ccg>Tcg	p.P773S	CNTN5_uc001pfz.3_Missense_Mutation_p.P773S|CNTN5_uc021qpb.1_Missense_Mutation_p.P773S|CNTN5_uc021qpc.1_Missense_Mutation_p.P699S|CNTN5_uc010ruk.2_Missense_Mutation_p.P44S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	773	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)		ATCCACAGTTCCGAAGACAGC	0.423000														9			3		0	0	0.004672	0	0
OR2L13	284521	broad.mit.edu	37	1	248263173	248263173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:248263173C>T	uc001ids.3	+	2	833	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	OR2L13_uc021pmc.1_Missense_Mutation_p.P166S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCTTCATATTCCCTACTGCAG	0.458000														119			167		0	0	0.014410	0	0
DNAH17	8632	broad.mit.edu	37	17	76423064	76423064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:76423064C>T	uc010dhp.2	-	77	12839	c.12714G>A	c.(12712-12714)atG>atA	p.M4238I	DNAH17_uc002jvq.3_Missense_Mutation_p.M523I|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGGATGTTCATTCTTTCAC	0.542000														20			6		0	0	0.003080	0	0
C2orf71	388939	broad.mit.edu	37	2	29293979	29293979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:29293979G>A	uc002rmt.2	-	0	3149	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1050	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment		p.S1049F(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGTGCGGTGGGGAAGTTCG	0.682000														43			24		0	0	0.021523	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795706	69795706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:69795706C>T	uc003hef.2	-	5	1440	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	470						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCTTGGCTCCTTTGTGGCG	0.488000														80			26		0	0	0.006320	0	0
LRRN1	57633	broad.mit.edu	37	3	3887668	3887668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:3887668G>A	uc003bpt.4	+	1	2104	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.R448Q	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	448	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTAGACTGTCGAGCCATGGCT	0.453000														51			22		0	0	0.010504	0	0
MAPRE2	10982	broad.mit.edu	37	18	32677441	32677441	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:32677441C>T	uc002kyg.3	+	2	462	c.282C>T	c.(280-282)ctC>ctT	p.L94L	MAPRE2_uc010xcb.2_Silent_p.L51L|MAPRE2_uc010xcc.2_Silent_p.L82L|MAPRE2_uc002kyf.2_Silent_p.L94L|MAPRE2_uc002kyh.3_Silent_p.L41L|MAPRE2_uc010xcd.2_Silent_p.L51L	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	94	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGGACATGCTCTTCCCTGGCT	0.418000														65			30		0	0	0.010818	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970012	161970012	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:161970012C>T	uc010pkq.2	-	4	1267	c.843G>A	c.(841-843)caG>caA	p.Q281Q	OLFML2B_uc001gbu.3_Silent_p.Q280Q	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	280										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGACCTGCCTCTGCAGGGGCC	0.592000														53			32		0	0	0.017118	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681067	73681067	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:73681067A>G	uc001ouo.3	+	7	1610	c.859A>G	c.(859-861)Aaa>Gaa	p.K287E		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	287					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCCCACTAAGAAAGGGGATCT	0.547000														120			50		0	0	0.014410	0	0
ZNF516	9658	broad.mit.edu	37	18	74154876	74154876	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:74154876G>A	uc021ulp.1	-	2	453	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCGAGCTCTGGAAGGGGAAGC	0.662000														17			15		0	0	0.004990	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703610	60703610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:60703610C>T	uc001nqi.3	+	10	2499	c.2306C>T	c.(2305-2307)cCt>cTt	p.P769L	TMEM132A_uc001nqj.3_Missense_Mutation_p.P768L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	768	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGCTGCCCCCTGCCTCCACT	0.721000														22			14		0	0	0.020292	0	0
PM20D1	148811	broad.mit.edu	37	1	205819130	205819130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:205819130C>T	uc001hdj.3	-	0	147	c.71G>A	c.(70-72)aGa>aAa	p.R24K	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	24						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCCCATCGATCTGGAGACGGT	0.597000														62			39		0	0	0.011902	0	0
CCBE1	147372	broad.mit.edu	37	18	57103301	57103301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:57103301C>T	uc002lib.3	-	10	1130	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CCBE1_uc010dpq.3_Missense_Mutation_p.E83K|CCBE1_uc002lia.3_Missense_Mutation_p.E207K	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	354					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AACACCTTTTCCTGCAGCTCA	0.537000														104			32		0	0	0.019004	0	0
PSG3	5671	broad.mit.edu	37	19	43233381	43233381	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:43233381G>A	uc002oue.3	-	4	1269	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L379L	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	379	Ig-like C2-type 3.			Missing (in Ref. 9).	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)				GGGGGATAAAGAGCTTTTGTC	0.463000														190			79		0	0	0.014410	0	0
NAT8B	51471	broad.mit.edu	37	2	73928207	73928207	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:73928207A>G	uc002sjk.1	-	1	258	c.223T>C	c.(223-225)Ttc>Ctc	p.F75L		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	76	N-acetyltransferase.				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										TTGGCAAGGAACCACAGGGCA	0.557000														50			19		0	0	0.006122	0	0
PRR23B	389151	broad.mit.edu	37	3	138739084	138739084	+	Silent	SNP	T	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:138739084T>C	uc003esy.1	-	0	685	c.420A>G	c.(418-420)gaA>gaG	p.E140E		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	140										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCGCAGAATTCCAGCTCGA	0.662000														43			14		0	0	0.020292	0	0
C6	729	broad.mit.edu	37	5	41195920	41195920	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:41195920G>A	uc003jmk.2	-	4	771	c.561C>T	c.(559-561)atC>atT	p.I187I	C6_uc003jml.1_Silent_p.I187I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	187	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.P186P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTACACTAGGGATGGGATTAT	0.428000														63			25		0	0	0.006320	0	0
EHD3	30845	broad.mit.edu	37	2	31472268	31472268	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:31472268C>T	uc002rnu.3	+	2	1044	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	EHD3_uc010ymt.2_Silent_p.L146L	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	146					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TAACCCTGTGCTGGAGAGCAT	0.597000														35			14		0	0	0.003163	0	0
RLTPR	146206	broad.mit.edu	37	16	67681857	67681857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:67681857G>A	uc002etn.3	+	12	1187	c.1067G>A	c.(1066-1068)aGt>aAt	p.S356N	RLTPR_uc010cel.1_Missense_Mutation_p.S356N|RLTPR_uc010vjr.2_Missense_Mutation_p.S356N	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	356										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCCGAGGACAGTGGGGTGAGT	0.672000														13			14		0	0	0.004007	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707649	96707649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:96707649G>A	uc001kka.4	+	3	620	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C9_uc009xut.3_Missense_Mutation_p.E199K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	199					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAACTTAATGGAAAAGTTGAA	0.383000														37			22		0	0	0.014323	0	0
KEL	3792	broad.mit.edu	37	7	142643320	142643320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:142643320C>T	uc003wcb.3	-	10	1498	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	430					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGCCAAAGGCCTCACGAACA	0.582000														36			9		0	0	0.006214	0	0
SCN4A	6329	broad.mit.edu	37	17	62018401	62018401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:62018401C>T	uc002jds.1	-	23	5318	c.5241G>A	c.(5239-5241)atG>atA	p.M1747I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1747	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGCCTGCTTCATGGAGCGCT	0.617000														72			34		0	0	0.021022	0	0
APOB	338	broad.mit.edu	37	2	21225676	21225676	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:21225676C>T	uc002red.3	-	28	12746	c.12618G>A	c.(12616-12618)ggG>ggA	p.G4206G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4206					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.G4206G(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCCAGGTTTCCCCGGAAACT	0.438000														363			155		0	0	0.014410	0	0
ZNF165	7718	broad.mit.edu	37	6	28057240	28057240	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:28057240T>A	uc021yro.1	+	3	2277	c.1450T>A	c.(1450-1452)Tta>Ata	p.L484I	ZNF165_uc003nkh.3_Missense_Mutation_p.L484I|ZNF165_uc003nki.4_Missense_Mutation_p.L484I|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	484					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAAACCTATTAATGTAAGG	0.353000														29			15		0	0	0.003163	0	0
CRHBP	1393	broad.mit.edu	37	5	76251650	76251650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:76251650G>A	uc003ker.3	+	3	786	c.506G>A	c.(505-507)gGa>gAa	p.G169E	CRHBP_uc010izx.3_Missense_Mutation_p.G169E	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	169					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CCAGGAAATGGATTCACATTA	0.443000														236			113		0	0	0.014410	0	0
MNDA	4332	broad.mit.edu	37	1	158815488	158815488	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:158815488C>G	uc001fsz.1	+	4	882	c.682C>G	c.(682-684)Cca>Gca	p.P228A		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	228	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P228Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATACGAGTCCCCAGAAAATGG	0.448000														28			21		0	0	0.016522	0	0
EOMES	8320	broad.mit.edu	37	3	27758863	27758863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:27758863C>T	uc003cdy.3	-	5	1816	c.1816G>A	c.(1816-1818)Gct>Act	p.A606T	EOMES_uc003cdx.3_Missense_Mutation_p.A587T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.A311T	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	587	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GGTAGTCCAGCTGCCATCTTC	0.532000														36			17		0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13885137	13885137	+	Missense_Mutation	SNP	G	A	A	rs143673459		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13885137G>A	uc003jfd.2	-	18	2986	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	982	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R982H(2)		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)					ATACGTTTGCGAATGGCCTCT	0.438000									Kartagener syndrome					46			25		0	0	0.021523	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991822	67991822	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:67991822G>A	uc010vkj.1	-	2	514	c.474C>T	c.(472-474)atC>atT	p.I158I	SLC12A4_uc010ceu.2_Silent_p.I150I|SLC12A4_uc010vkh.1_Silent_p.I125I|SLC12A4_uc002euz.2_Silent_p.I156I|SLC12A4_uc010vki.1_Silent_p.I156I|SLC12A4_uc002eva.2_Silent_p.I156I|SLC12A4_uc002evb.2_Intron|SLC12A4_uc010cew.1_Silent_p.I39I	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	156					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	p.L158F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGATAAGCACGATGAGGAGGG	0.632000														38			11		0	0	0.008291	0	0
CYBA	1535	broad.mit.edu	37	16	88713214	88713214	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:88713214A>T	uc002flb.3	-	3	272	c.236T>A	c.(235-237)cTg>cAg	p.L79Q	CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Missense_Mutation_p.L79Q|CYBA_uc010chx.1_Missense_Mutation_p.L79Q	NM_000101	NP_000092	P13498	CY24A_HUMAN	Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA.	79					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	SH3 domain binding|electron carrier activity|heme binding|protein heterodimerization activity			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGGCCCGAACAGCTTCACCAC	0.652000														49			23		0	0	0.021523	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799733	159799733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:159799733C>T	uc001fue.4	+	1	328	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	40						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCAGCGCGTCCCCCTGGCTT	0.597000														137			128		0	0	0.014410	0	0
OR52B4	143496	broad.mit.edu	37	11	4389432	4389432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4389432G>A	uc010qye.2	-	0	185	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATGAAGAATGGGATAGAAATC	0.517000														17			12		0	0	0.020292	0	0
FGF12	2257	broad.mit.edu	37	3	191888297	191888297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:191888297C>T	uc003fsx.3	-	3	1389	c.563G>A	c.(562-564)aGa>aAa	p.R188K	FGF12_uc003fsy.3_Missense_Mutation_p.R126K	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	188					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTTCTTCACTCTGTTCCCCTT	0.428000														108			39		0	0	0.005524	0	0
ADCY8	114	broad.mit.edu	37	8	131812690	131812690	+	Silent	SNP	G	A	A	rs142352284		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:131812690G>A	uc003ytd.4	-	14	3298	c.3042C>T	c.(3040-3042)atC>atT	p.I1014I	ADCY8_uc010mds.3_Silent_p.I883I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCAGCAATGATCTCATTGA	0.428000										HNSCC(32;0.087)				76			25		0	0	0.021523	0	0
ITGA6	3655	broad.mit.edu	37	2	173334104	173334104	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:173334104G>A	uc002uhp.1	+	3	842	c.639G>A	c.(637-639)tgG>tgA	p.W213*	ITGA6_uc010fqk.1_Nonsense_Mutation_p.W99*|ITGA6_uc010zdy.1_Nonsense_Mutation_p.W99*|ITGA6_uc002uho.1_Nonsense_Mutation_p.W213*|ITGA6_uc010fql.2_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	213					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTTATAACTGGAAAGGTATGA	0.358000														36			19		0	0	0.010504	0	0
COL5A2	1290	broad.mit.edu	37	2	189929782	189929782	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:189929782C>T	uc002uqk.3	-	24	1839	c.1564_splice	c.e24-1	p.G522_splice	COL5A2_uc010frx.3_Splice_Site_p.G98_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	522					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCAGGAGCACCCTACAAATG	0.403000														18			6		0	0	0.001984	0	0
BCL9L	283149	broad.mit.edu	37	11	118773103	118773104	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:118773103_118773104GG>AA	uc001pug.3	-	5	2313_2314	c.1348_1349CC>TT	c.(1348-1350)ccc>TTc	p.P450F	BCL9L_uc009zal.3_Missense_Mutation_p.P445F	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	450	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCTGGGGGGGAGGGGGGGCT	0.673000														12			16		0	0	0.004672	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805812	44805812	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:44805812C>T	uc003tlr.3	+	16	2415	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	ZMIZ2_uc003tlq.3_Silent_p.T706T|ZMIZ2_uc003tls.3_Silent_p.T738T|ZMIZ2_uc003tlt.3_Silent_p.T387T|ZMIZ2_uc010kyj.3_Silent_p.T286T|ZMIZ2_uc003tlu.3_Silent_p.T45T|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	764	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCCACCCACCACGCCCAGCA	0.632000														59			14		0	0	0.020292	0	0
AMPH	273	broad.mit.edu	37	7	38433666	38433666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:38433666G>A	uc003tgu.3	-	17	1763	c.1547C>T	c.(1546-1548)aCc>aTc	p.T516I	AMPH_uc003tgv.3_Missense_Mutation_p.T474I|AMPH_uc003tgt.3_Missense_Mutation_p.T401I|AMPH_uc003tgw.1_Missense_Mutation_p.T539I|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	516					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACCCTCAGTGGTTTCAGTTCC	0.602000														121			36		0	0	0.021022	0	0
RELN	5649	broad.mit.edu	37	7	103281034	103281034	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:103281034G>A	uc022ajr.1	-	16	2185	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	RELN_uc022ajq.1_Silent_p.L675L|RELN_uc010liz.3_Silent_p.L675L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	675	EGF-like 1.				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)		AACAGAATTTGAGACATGACG	0.363000														25			8		0	0	0.004482	0	0
MYH2	4620	broad.mit.edu	37	17	10433037	10433037	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:10433037C>T	uc010coi.3	-	23	3089	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E987E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	987					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCTGCCATCTCTTCTGTGA	0.493000														87			108		0	0	0.014410	0	0
ATP1A3	478	broad.mit.edu	37	19	42474402	42474402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42474402G>A	uc002osh.3	-	17	2631	c.2477C>T	c.(2476-2478)cCc>cTc	p.P826L	ATP1A3_uc010xwf.2_Missense_Mutation_p.P837L|ATP1A3_uc010xwg.2_Missense_Mutation_p.P796L|ATP1A3_uc002osg.3_Missense_Mutation_p.P826L|ATP1A3_uc010xwh.2_Missense_Mutation_p.P839L			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	826					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGGGTTCCTGGGCTGTCTCTT	0.617000														41			23		0	0	0.018920	0	0
CASR	846	broad.mit.edu	37	3	121980939	121980939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:121980939G>A	uc003eew.4	+	3	1495	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	CASR_uc003eev.4_Missense_Mutation_p.E353K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	353					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGAGTTTTGGGAAGAAACATT	0.498000														38			14		0	0	0.016723	0	0
CNGA2	1260	broad.mit.edu	37	X	150906979	150906979	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:150906979G>A	uc004fey.1	+	1	248	c.24G>A	c.(22-24)gtG>gtA	p.V8V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	8					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATGGTGTGAAGAGCTCCC	0.522000														81			46		0	0	0.014410	0	0
FCN2	2220	broad.mit.edu	37	9	137776591	137776591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:137776591C>T	uc004cfg.1	+	3	284	c.274C>T	c.(274-276)Cct>Tct	p.P92S	FCN2_uc004cfh.1_Missense_Mutation_p.P54S	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	92	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AACAGGAGCACCTGGGGAGCC	0.617000														32			8		0	0	0.006214	0	0
CARS	833	broad.mit.edu	37	11	3041483	3041483	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:3041483G>A	uc001lxf.3	-	10	1317	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	CARS_uc010qxo.2_Silent_p.P411P|CARS_uc001lxe.3_Silent_p.P318P|CARS_uc001lxg.3_Silent_p.P328P|CARS_uc001lxh.3_Silent_p.P328P|CARS_uc010qxp.2_Silent_p.P341P	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	328					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACGGTTCTCCGGGCTTAGAGG	0.627000			T	ALK	ALCL									60			20		0	0	0.014323	0	0
ASB4	51666	broad.mit.edu	37	7	95167013	95167013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:95167013C>T	uc011kij.2	+	4	1294	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	408	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTTTGCTTTCCCTCCCATTG	0.408000														53			28		0	0	0.008361	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19444955	19444955	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:19444955G>A	uc010tcj.1	-	0		c.1155C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAATAACAAGGAAATCACTCC	0.333000														17			4		0	0	0.009096	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246227	145246227	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:145246227G>T	uc003lns.1	-	1	401	c.401C>A	c.(400-402)aCc>aAc	p.T134N		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	134								p.R133*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTCCATTGGGGTTCGAATGAT	0.403000														63			26		9.78306e-22	1.00381e-21	0.009535	1	0
DOPEY2	9980	broad.mit.edu	37	21	37571508	37571508	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:37571508C>T	uc002yvg.3	+	2	358	c.279C>T	c.(277-279)atC>atT	p.I93I	DOPEY2_uc011aeb.2_Silent_p.I93I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	93					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTTTAAAATCGTGGGGACCA	0.473000														66			22		0	0	0.016522	0	0
OR11G2	390439	broad.mit.edu	37	14	20665781	20665781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20665781C>T	uc010tlb.2	+	0	287	c.287C>T	c.(286-288)cCc>cTc	p.P96L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCCACGCCCCCATGTACATC	0.522000														65			21		0	0	0.021523	0	0
ZNF148	7707	broad.mit.edu	37	3	124952531	124952531	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:124952531G>T	uc003ehx.4	-	8	1525	c.1039C>A	c.(1039-1041)Cct>Act	p.P347T	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.P347T|ZNF148_uc010hsa.3_Missense_Mutation_p.P347T|ZNF148_uc003eia.4_Missense_Mutation_p.P347T|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	347					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			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GAATAAAGAGGCAAGTAATCA	0.363000														40			14		1.05317e-09	1.07426e-09	0.020292	1	0
KIAA1804	84451	broad.mit.edu	37	1	233515097	233515097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233515097C>T	uc001hvt.4	+	8	2606	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	KIAA1804_uc001hvu.4_Missense_Mutation_p.S228F	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	782					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGCCTGCCATCCACCTGTGGG	0.597000														121			26		0	0	0.006320	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296092	233296092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233296092G>A	uc001hvl.2	-	18	3689	c.3454C>T	c.(3454-3456)Ccc>Tcc	p.P1152S	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_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.	1152						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)				CACATCCAGGGATGATGCTTG	0.433000														84			15		0	0	0.004007	0	0
PDS5A	23244	broad.mit.edu	37	4	39851153	39851153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:39851153G>A	uc003guv.4	-	26	3746	c.3206C>T	c.(3205-3207)tCc>tTc	p.S1069F		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1069					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATTTGTCTTGGATTCATCTGG	0.353000														74			20		0	0	0.012319	0	0
DSC3	1825	broad.mit.edu	37	18	28605749	28605749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:28605749G>A	uc002kwj.4	-	4	762	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	DSC3_uc002kwi.4_Missense_Mutation_p.R203C	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	203	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.R203C(4)|p.D202D(1)		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)			TATTCTTCACGATCCACAGGC	0.338000														34			13		0	0	0.020292	0	0
LIFR	3977	broad.mit.edu	37	5	38490385	38490385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:38490385G>A	uc010ive.1	-	14	2406	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	LIFR_uc003jli.2_Nonsense_Mutation_p.R692*	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	692	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATACCTGGTCGAAACTCATCT	0.279000			T	PLAG1	salivary adenoma									65			24		0	0	0.004656	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788613	140788613	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140788613C>T	uc003lkj.2	+	0	844	c.844C>T	c.(844-846)Cga>Tga	p.R282*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Nonsense_Mutation_p.R282*	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	282	Cadherin 3.				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)			CTACTACTTCCGAAGCACTGC	0.428000														43			28		0	0	0.006320	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675571	176675571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:176675571G>A	uc001gkz.3	+	9	4606	c.3442G>A	c.(3442-3444)Ggt>Agt	p.G1148S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1148					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1148V(1)		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						GCTGGAGGAAGGTTTCAACTG	0.418000														45			8		0	0	0.003080	0	0
ATP10D	57205	broad.mit.edu	37	4	47561023	47561023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:47561023C>T	uc003gxk.1	+	12	2682	c.2518C>T	c.(2518-2520)Cgt>Tgt	p.R840C	ATP10D_uc003gxl.1_Missense_Mutation_p.R88C	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	840					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAAGGCCTTCGTACTTTATG	0.418000														58			23		0	0	0.014323	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726198	168726198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:168726198C>T	uc021vsc.1	+	0	649	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	B3GALT1_uc002udz.1_Missense_Mutation_p.R217C	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	217					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R217C(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCGGGATGTCCGCAGTAAGTG	0.453000														41			19		0	0	0.014323	0	0
TECTA	7007	broad.mit.edu	37	11	121008170	121008170	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:121008170C>T	uc010rzo.2	+	9	2982	c.2982C>T	c.(2980-2982)atC>atT	p.I994I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	994	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGAGTGCATCACATGTACAG	0.537000														29			25		0	0	0.005443	0	0
OC90	729330	broad.mit.edu	37	8	133036886	133036886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:133036886C>T	uc003ytg.2	-	12	1276	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	OC90_uc011lix.1_Missense_Mutation_p.E426K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	442	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.P425L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGGCTGTCTTCACAGGCTGCT	0.647000														16			7		0	0	0.003080	0	0
GBE1	2632	broad.mit.edu	37	3	81810613	81810613	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:81810613T>A	uc021xav.1	-	0	338	c.56A>T	c.(55-57)aAt>aTt	p.N19I		NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	19					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGGGCGGCATTGAGCGCCGC	0.672000									Glycogen Storage Disease, type IV					25			9		0	0	0.004482	0	0
ZNF483	158399	broad.mit.edu	37	9	114296142	114296142	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:114296142C>T	uc004bff.2	+	3	849	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	ZNF483_uc011lwq.2_Silent_p.L209L|ZNF483_uc004bfg.2_Silent_p.L209L	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	209	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CCTAGAATTTCTGGGTAAAGA	0.403000														62			15		0	0	0.006122	0	0
LCE4A	199834	broad.mit.edu	37	1	152681714	152681714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152681714G>A	uc001fak.2	+	0	192	c.163G>A	c.(163-165)Gga>Aga	p.G55R		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	Homo sapiens late cornified envelope 4A (LCE4A), mRNA.	55	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAGCTCTGAGGGAGGTGGCTG	0.597000														66			19		0	0	0.006320	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136321	40136321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:40136321G>A	uc021qgf.1	-	0	1522	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P504S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P504S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P508S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P504S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	508					regulation of axonogenesis	integral to membrane	protein binding			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)				TCAGTCACTGGGATGGTGAAG	0.502000														43			22		0	0	0.012319	0	0
TRPM4	54795	broad.mit.edu	37	19	49705305	49705305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:49705305C>T	uc002pmw.3	+	19	3146	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	TRPM4_uc010emu.3_Missense_Mutation_p.S868F|TRPM4_uc010yak.2_Missense_Mutation_p.S477F|TRPM4_uc002pmx.3_Missense_Mutation_p.S839F|TRPM4_uc010emv.3_Missense_Mutation_p.S898F|TRPM4_uc010yal.2_Missense_Mutation_p.S659F|TRPM4_uc002pmy.3_Missense_Mutation_p.S355F	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1013					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ACCTGCGTCTCCCAGTATGCC	0.617000														91			52		0	0	0.014410	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149376778	149376778	+	RNA	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:149376778G>A	uc010pbh.2	+	4		c.717G>A								Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		CAGAGGCCTGGTTTGCAGCTT	0.498000														24			27		0	0	0.006320	0	0
CACNA1C	775	broad.mit.edu	37	12	2690876	2690876	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:2690876C>T	uc009zdu.1	+	13	2329	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L	CACNA1C_uc001qkc.2_Silent_p.L672L|CACNA1C_uc001qjz.2_Silent_p.L672L|CACNA1C_uc001qkd.2_Silent_p.L672L|CACNA1C_uc001qke.2_Silent_p.L672L|CACNA1C_uc001qkf.2_Silent_p.L672L|CACNA1C_uc009zdw.1_Silent_p.L672L|CACNA1C_uc001qkg.2_Silent_p.L672L|CACNA1C_uc001qkh.2_Silent_p.L672L|CACNA1C_uc001qkl.2_Silent_p.L672L|CACNA1C_uc001qkj.2_Silent_p.L672L|CACNA1C_uc001qkk.2_Silent_p.L672L|CACNA1C_uc001qkn.2_Silent_p.L672L|CACNA1C_uc001qkm.2_Silent_p.L672L|CACNA1C_uc001qko.2_Silent_p.L672L|CACNA1C_uc001qkp.2_Silent_p.L672L|CACNA1C_uc001qkq.2_Silent_p.L672L|CACNA1C_uc001qku.2_Silent_p.L672L|CACNA1C_uc001qkr.2_Silent_p.L672L|CACNA1C_uc001qks.2_Silent_p.L672L|CACNA1C_uc001qkt.2_Silent_p.L672L|CACNA1C_uc009zdv.1_Silent_p.L669L|CACNA1C_uc001qkb.2_Silent_p.L672L|CACNA1C_uc001qka.1_Silent_p.L207L|CACNA1C_uc001qki.1_Silent_p.L408L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	672					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)	GGATGCAGCTCTTTGGAGGAA	0.532000														25			18		0	0	0.007413	0	0
PTPRB	5787	broad.mit.edu	37	12	70983782	70983782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:70983782C>T	uc001swb.4	-	5	1388	c.1358G>A	c.(1357-1359)gGa>gAa	p.G453E	PTPRB_uc010sto.2_Missense_Mutation_p.G453E|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Missense_Mutation_p.G671E|PTPRB_uc001swa.4_Missense_Mutation_p.G671E|PTPRB_uc001swd.4_Missense_Mutation_p.G670E|PTPRB_uc009zrr.2_Missense_Mutation_p.G550E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	453	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S452I(1)|p.S452R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAAATTTCCACTCTCAAC	0.453000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			34		0	0	0.006999	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217185	150217185	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:150217185A>C	uc003whk.3	+	1	253	c.123A>C	c.(121-123)caA>caC	p.Q41H	GIMAP7_uc022apu.1_Missense_Mutation_p.Q41H	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	41							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)		TTGCTGCCCAAGCTGTTACCA	0.502000														44			13		0	0	0.020292	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173848292	173848292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:173848292C>T	uc002uhv.4	+	10	1260	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	RAPGEF4_uc002uhu.2_Missense_Mutation_p.S358F|RAPGEF4_uc002uhw.4_Missense_Mutation_p.S214F|RAPGEF4_uc010zec.1_Missense_Mutation_p.S205F|RAPGEF4_uc010zed.1_Missense_Mutation_p.S187F|RAPGEF4_uc010zee.1_Missense_Mutation_p.S205F|RAPGEF4_uc010fqo.2_Missense_Mutation_p.S187F|RAPGEF4_uc010zef.1_Missense_Mutation_p.S138F|RAPGEF4_uc010zeg.1_Missense_Mutation_p.S185F|RAPGEF4_uc010fqp.1_Missense_Mutation_p.S138F|RAPGEF4_uc010zeh.1_Missense_Mutation_p.S138F	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	358					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AAAGCCTTATCCCATCTTTCT	0.393000														58			26		0	0	0.008361	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433185	140433185	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140433185C>T	uc003lik.1	+	0	2207	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGTGATCTTCATTATACATG	0.348000														67			23		0	0	0.012319	0	0
OR4K2	390431	broad.mit.edu	37	14	20345076	20345076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20345076C>T	uc001vwh.1	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATTTAATTCATATGTTATT	0.383000														359			35		0	0	0.021022	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059674	152059674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152059674C>T	uc001ezo.1	-	2	549	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	162							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)			GTCTTGGCTTCTCTCCATGGG	0.453000														103			25		0	0	0.004656	0	0
POLQ	10721	broad.mit.edu	37	3	121264614	121264614	+	Silent	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:121264614G>A	uc003eee.4	-	0	240	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	37					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCTCAGCACGGACCCGGAGA	0.706000								DNA polymerases (catalytic subunits)						14			5		0	0	0.014758	0	0
TLL1	7092	broad.mit.edu	37	4	166946521	166946521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:166946521C>T	uc003irh.2	+	8	1743	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	TLL1_uc021xud.1_Missense_Mutation_p.P366S|TLL1_uc011cjn.2_Missense_Mutation_p.P366S|TLL1_uc011cjo.2_Missense_Mutation_p.P190S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	366	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCAGGATTTCCCAATGGCTA	0.383000														33			27		0	0	0.012213	0	0
NUDT16	131870	broad.mit.edu	37	3	131100667	131100667	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:131100667C>T	uc003eog.2	+	0	59	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Intron|NUDT16_uc021xec.1_Silent_p.L7L|NUDT16_uc011bln.2_5'UTR	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.	7						nucleolus|nucleoplasm	RNA binding|hydrolase activity|metal ion binding			large_intestine(1)|lung(6)	7						AGCCCGCAGGCTGGAGCTAGG	0.716000														5			3		0	0	0.004672	0	0
COL4A5	1287	broad.mit.edu	37	X	107821309	107821309	+	Splice_Site	SNP	G	A	A	rs104886074		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:107821309G>A	uc022ccg.1	+	12	848	c.646_splice	c.e12-1	p.G216_splice	COL4A5_uc004enz.1_Splice_Site_p.G216_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	216	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTCTCCAGGGGAATATGGGC	0.368000									Alport syndrome with Diffuse Leiomyomatosis					16			16		0	0	0.003163	0	0
OR51I2	390064	broad.mit.edu	37	11	5475249	5475249	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5475249C>T	uc010qzf.2	+	0	612	c.531C>T	c.(529-531)tcC>tcT	p.S177S	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.	177					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)		TTTCTCACTCCTACTGCCTGC	0.478000														68			32		0	0	0.009535	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215759	20215759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20215759C>T	uc010tkt.2	+	0	173	c.173C>T	c.(172-174)tCt>tTt	p.S58F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCTCCAATCTCCTATGTAT	0.408000														307			42		0	0	0.011902	0	0
SPATA16	83893	broad.mit.edu	37	3	172694842	172694842	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:172694842C>T	uc003fin.4	-	5	1033	c.849_splice	c.e5-1	p.R283_splice		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	283			R -> Q (in SPGF6).		cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCATGGCACTCCTAAGAACAA	0.378000														57			24		0	0	0.021523	0	0
GPR98	84059	broad.mit.edu	37	5	89925204	89925204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:89925204G>A	uc003kju.3	+	8	1783	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	563					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)		CATTCCTGCTGGAGCTGTGGA	0.403000														36			16		0	0	0.004990	0	0
OR6K6	128371	broad.mit.edu	37	1	158725296	158725296	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:158725296G>T	uc001fsw.1	+	0	691	c.691G>T	c.(691-693)Gca>Tca	p.A231S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCCATCCATGCAGCGGAAAT	0.483000														69			22		9.57634e-11	9.79116e-11	0.018920	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120944	38120944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:38120944C>T	uc003atr.3	+	6	2652	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	TRIOBP_uc003atu.3_Missense_Mutation_p.S622F|TRIOBP_uc003atq.1_Missense_Mutation_p.S794F|TRIOBP_uc003ats.1_Missense_Mutation_p.S622F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	794					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGAACATCCTGTGCCCAG	0.532000														77			28		0	0	0.008361	0	0
TRIM49	57093	broad.mit.edu	37	11	89531591	89531591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:89531591C>T	uc001pdb.3	-	7	1395	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	356	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTACAGACACCAAAAGCCCAA	0.438000														85			22		0	0	0.005443	0	0
CHD9	80205	broad.mit.edu	37	16	53331032	53331032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:53331032C>T	uc002ehb.3	+	28	5839	c.5675C>T	c.(5674-5676)tCc>tTc	p.S1892F	CHD9_uc002egy.3_Missense_Mutation_p.S1892F|CHD9_uc002ehc.3_Missense_Mutation_p.S1892F|CHD9_uc002ehf.3_Missense_Mutation_p.S1006F|CHD9_uc002ehg.2_Missense_Mutation_p.S1006F|CHD9_uc010cbw.3_Missense_Mutation_p.S260F	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1892					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCATTCATGTCCATGTGTCGG	0.373000														100			34		0	0	0.005524	0	0
C1orf168	199920	broad.mit.edu	37	1	57202799	57202799	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57202799A>T	uc001cym.4	-	14	2160	c.1754T>A	c.(1753-1755)aTt>aAt	p.I585N	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	585										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATCATAAATAATAACTTCCTG	0.333000														42			12		0	0	0.020292	0	0
ITGA2	3673	broad.mit.edu	37	5	52351403	52351403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:52351403G>A	uc003joy.3	+	7	958	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.R196Q|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.	272	VWFA.				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)				GGTGGGCGACGAAGTGCTACG	0.373000														50			17		0	0	0.004990	0	0
ANKS1B	56899	broad.mit.edu	37	12	100219094	100219094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:100219094C>T	uc001tge.2	-	1	625	c.208G>A	c.(208-210)Gga>Aga	p.G70R	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G70R	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	70						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TACTTATGTCCATTTAAGGCT	0.438000														8			9		0	0	0.010729	0	0
IFNW1	3467	broad.mit.edu	37	9	21141465	21141465	+	Silent	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:21141465C>T	uc003zol.1	-	0	680	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	35					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAAGGTGTTCCTGCTAAGTA	0.527000														63			43		0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38601711	38601711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:38601711C>T	uc021wvo.1	-	21	4224	c.4172G>A	c.(4171-4173)gGa>gAa	p.G1391E	SCN5A_uc021wvk.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1337E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvq.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvr.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvs.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvt.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvu.1_Missense_Mutation_p.G1337E|SCN5A_uc021wvv.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvj.1_Missense_Mutation_p.G1203E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1257E|SCN5A_uc021wvw.1_Missense_Mutation_p.G1001E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1391					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)	GTACAATTCTCCGGTCAAGTT	0.527000														17			8		0	0	0.004482	0	0
TRIP12	9320	broad.mit.edu	37	2	230693983	230693983	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:230693983A>C	uc002vpx.1	-	7	1485	c.1376T>G	c.(1375-1377)cTt>cGt	p.L459R	TRIP12_uc021vxw.1_Missense_Mutation_p.L417R|TRIP12_uc002vpy.1_Missense_Mutation_p.L114R|TRIP12_uc002vpw.1_Missense_Mutation_p.L411R|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.L417R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	411					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGAGGGGGAAGACCCCTTGC	0.408000														40			16		0	0	0.004990	0	0
SYT3	84258	broad.mit.edu	37	19	51132550	51132550	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:51132550C>T	uc002pst.3	-	4	1915	c.1281_splice	c.e4+1	p.S427_splice	SYT3_uc002psv.3_Splice_Site_p.S427_splice|SYT3_uc010ycd.2_Splice_Site_p.S427_splice	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	427						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCCACTGACCGAGCCGCCC	0.667000														12			7		0	0	0.003080	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726526	25726527	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:25726526_25726527insT	uc003nfc.3	-	0	264_265	c.229_230insA	c.(229-231)actfs	p.T77fs	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	77					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AATAATGCGAGTTTTTTTGTTA	0.545													---	113	---	---	26	---					
LOC494141	494141	broad.mit.edu	37	11	18231788	18231789	+	RNA	INS	-	T	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:18231788_18231789insT	uc009yhh.3	+	1		c.812_813insT			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		TCAGCAATGTCTTTTTTTTTTC	0.436													---	60	---	---	7	---					
