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
ESCO2	157570	broad.mit.edu	37	8	27634312	27634312	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27634312A>G	uc003xgg.3	+	2	570	c.487A>G	c.(487-489)Aga>Gga	p.R163G	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.R163G	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	163					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAGGAATTCTAGAAATTCCAA	0.378000									SC Phocomelia syndrome					37			19		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713347	40713348	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:40713347_40713348CC>TT	uc002xkg.3	-	28	4294_4295	c.4110_4111GG>AA	c.(4108-4113)agggag>agAAag	p.E1371K	PTPRT_uc010ggj.3_Missense_Mutation_p.E1390K|PTPRT_uc010ggi.3_Missense_Mutation_p.E574K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1371	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.R1392S(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)				GTACGTCCCTCCCTCCCGTCAT	0.609000														15			8		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212566709	212566709	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:212566709C>T	uc002veg.1	-	11	1570	c.1472G>A	c.(1471-1473)aGa>aAa	p.R491K	ERBB4_uc002veh.1_Missense_Mutation_p.R491K|ERBB4_uc010zji.1_Missense_Mutation_p.R491K|ERBB4_uc010zjj.1_Missense_Mutation_p.R491K|ERBB4_uc010fut.1_Missense_Mutation_p.R491K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	491					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R491K(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCAGCTTTTCTGTTGTCCCG	0.318000										TSP Lung(8;0.080)				74			12		0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27995278	27995278	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27995278C>T	uc003xgo.4	+	9	1118	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	ELP3_uc003xgn.4_Missense_Mutation_p.R309C|ELP3_uc011las.2_Missense_Mutation_p.R205C|ELP3_uc011lat.2_Missense_Mutation_p.R205C|ELP3_uc011laq.2_Missense_Mutation_p.R252C|ELP3_uc011lar.2_Missense_Mutation_p.R232C	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	324					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCTGGTGATTCGTGGGACCGG	0.473000														49			24		0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71544351	71544351	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:71544351G>A	uc001dft.3	-	1	391	c.97C>T	c.(97-99)Cga>Tga	p.R33*	BC054887_uc001dfu.1_5'Flank|ZRANB2_uc001dfs.3_Nonsense_Mutation_p.R33*	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	33					RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCACATCGATTACAGCTG	0.259000														36			38		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17157555	17157555	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:17157555G>A	uc001ioo.3	-	6	687	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	212					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCATATTTGGATGCACACTG	0.567000														48			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469809	179469809	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179469809A>T	uc021vsy.1	-	228	46616	c.46391T>A	c.(46390-46392)aTt>aAt	p.I15464N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I9159N|TTN_uc021vta.1_Missense_Mutation_p.I9092N|TTN_uc021vtb.1_Missense_Mutation_p.I8967N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16391	Fibronectin type-III 12.						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)			CGCTTTGGGAATGCTAAGCTC	0.448000														57			56		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519576	53519576	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:53519576C>T	uc003pcb.4	-	1	636	c.495G>A	c.(493-495)cgG>cgA	p.R165R		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.R165W(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACTCATCTCCCGTATCAGAA	0.373000														49			27		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129748923	129748923	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:129748923G>A	uc021zfb.1	+	40	5997	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K	LAMA2_uc003qbn.3_Silent_p.K1964K|LAMA2_uc003qbo.3_Silent_p.K1964K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1964	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTTATTAAAGGAAGATGCCA	0.408000														87			29		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48517196	48517196	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:48517196C>T	uc003gyh.1	-	55	8391	c.7786G>A	c.(7786-7788)Gga>Aga	p.G2596R	FRYL_uc003gyf.1_5'UTR|FRYL_uc003gyg.1_Missense_Mutation_p.G1292R|FRYL_uc003gyi.1_Missense_Mutation_p.G1484R	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2596					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAAGAATTCCTTGACACACA	0.398000														63			36		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010768	27010768	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:27010768C>T	uc010crt.3	+	17	2355	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	SUPT6H_uc002hby.3_Silent_p.L721L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	721					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGCAGTTCCTCTATGTGCAGA	0.463000														33			13		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416202	124416202	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:124416202C>T	uc001uft.4	+	73	12607	c.12582C>T	c.(12580-12582)atC>atT	p.I4194I	DNAH10_uc001ufu.4_Silent_p.I107I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4194					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGTGGTATCAGCCGCGATG	0.507000														41			19		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49994103	49994103	+	Silent	SNP	C	T	T	rs142574485	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:49994103C>T	uc002pny.3	+	4	346	c.324C>T	c.(322-324)atC>atT	p.I108I	RPL13A_uc002pnz.3_Silent_p.I47I|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	108					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TTGACGGCATCCCACCGCCCT	0.577000														40			22		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004278	248004278	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248004278C>T	uc001idn.1	-	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACCACATTTCCTTCTCATGA	0.383000														32			38		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73712464	73712464	+	Missense_Mutation	SNP	G	A	A	rs76629964		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:73712464G>A	uc001our.3	-	6	1287	c.932C>T	c.(931-933)cCg>cTg	p.P311L		NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	311					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGTTCAAAACGGTGATTCCCG	0.498000														28			12		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270884	22270884	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22270884T>C	uc010ecx.3	+	3	501	c.332T>C	c.(331-333)tTa>tCa	p.L111S	ZNF257_uc010ecy.3_Missense_Mutation_p.L79S	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATGAGAATTTACAATTAAGA	0.363000														31			20		0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9360030	9360030	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:9360030T>G	uc002knz.3	+	2	375	c.184T>G	c.(184-186)Tgt>Ggt	p.C62G	TWSG1_uc002koa.3_5'UTR	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	62	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GTGCATGCTGTGTCTTGGGGC	0.458000														56			8		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239757	21239757	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:21239757C>T	uc010mis.3	-	0	222	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGGGGAAATTCAAAGTCATGT	0.478000														33			48		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72534537	72534538	+	Silent	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:72534537_72534538GG>AA	uc002auc.3	-	20	2124_2125	c.1665_1666CC>TT	c.(1663-1668)ttcctg>ttTTtg	p.555_556FL>FL	PARP6_uc002aua.3_Silent_p.401_402FL>FL|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Silent_p.556_557FL>FL	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	555	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGACTCTGCAGGAACCGTGACT	0.475000														32			7		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409441	82409441	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:82409441G>A	uc001dit.4	+	5	1367	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.D396N|LPHN2_uc001div.3_Missense_Mutation_p.D396N|LPHN2_uc009wcd.3_Missense_Mutation_p.D396N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	396					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGTCCACCTGATCCTGCCCA	0.343000														35			31		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41045890	41045890	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:41045890G>A	uc003jmj.4	-	17	2284	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	HEATR7B2_uc003jmi.4_Silent_p.F153F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	598							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						TTTGCTGTTTGAAATCCTGAG	0.428000														110			59		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804972	22804972	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:22804972G>A	uc002kvk.2	-	3	3157	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.S970S|ZNF521_uc002kvl.2_Silent_p.S750S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	970					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTTAAAAGGGAGGGAAACC	0.483000			T	PAX5	ALL									42			32		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571508	37571508	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	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														52			23		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997755	38997755	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:38997755G>A	uc011aej.1	-	3	1031	c.978C>T	c.(976-978)atC>atT	p.I326I	KCNJ6_uc002ywo.2_Silent_p.I326I	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	326					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCACTGGTGATGTAGGAGC	0.517000														37			20		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383552	48383552	+	Missense_Mutation	SNP	C	T	T	rs121912871		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:48383552C>T	uc001rqu.3	-	16	1241	c.1060G>A	c.(1060-1062)Ggg>Agg	p.G354R	COL2A1_uc009zkw.3_5'Flank|COL2A1_uc001rqv.3_Missense_Mutation_p.G285R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	354	Triple-helical region.		G -> R (in spondylometaphyseal dysplasia; congenital type).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCGGAGGCCCTGCGGGGCCT	0.592000														35			44		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35756961	35756961	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:35756961G>A	uc011axy.2	+	9	1038	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	ARPP21_uc003cga.3_Missense_Mutation_p.E276K|ARPP21_uc003cgb.3_Missense_Mutation_p.E310K|ARPP21_uc003cgf.3_Missense_Mutation_p.E112K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	310						cytoplasm	nucleic acid binding	p.R276G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCTTTTTGTGGAAAACAGGTA	0.358000														28			6		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961697	73961697	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73961697C>T	uc004eby.3	-	2	3312	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	899					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCATGAATTCCTGGGTGCCA	0.468000														4			26		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107533	42107533	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:42107533C>T	uc001zok.4	+	11	1551	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	MAPKBP1_uc010bci.3_Missense_Mutation_p.T416I|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Missense_Mutation_p.T416I|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	422								p.T416N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGACAACACCATCCGCCTG	0.602000														41			13		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932473	83932473	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:83932473G>A	uc002bjt.1	-	3	1618	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	BNC1_uc010uos.1_Silent_p.S498S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	510					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACAGCGGGAGGGAAGGGAGTA	0.517000														56			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014700	9014700	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9014700C>T	uc002mkp.3	-	30	38479	c.38275G>A	c.(38275-38277)Gag>Aag	p.E12759K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12761	SEA 5.			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						CCATCCTTCTCGGACCTGAGG	0.527000														27			25		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154026837	154026837	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:154026837G>A	uc001fdw.3	-	24	3422	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	NUP210L_uc009woq.3_Missense_Mutation_p.S26F|NUP210L_uc010peh.2_Missense_Mutation_p.S1117F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1117						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)			ATTACTGATGGAGAAGTGAAC	0.463000														54			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90193262	90193262	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:90193262G>A	uc010yts.2	+	34		c.4119G>A								Parts of antibodies, mostly variable regions.																		AGAAACCAGGGAAAGCTCCTA	0.527000														139			28		0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3592752	3592752	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:3592752G>A	uc010nde.3	-	1	603	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	74	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGAGGGCGAAGAAATGCTTGG	0.537000														19			36		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62273660	62273660	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:62273660C>T	uc002agz.3	-	21	2138	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	VPS13C_uc002aha.3_Missense_Mutation_p.E640K|VPS13C_uc002ahb.2_Missense_Mutation_p.E683K|VPS13C_uc002ahc.2_Missense_Mutation_p.E640K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	683					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						TTTCGAGTTTCAATAATATGT	0.313000														20			3		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98079148	98079148	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:98079148G>A	uc001kmf.3	+	3	677	c.507_splice	c.e3+1	p.T169_splice	DNTT_uc001kmg.3_Splice_Site_p.T169_splice	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	169	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATATTCACGGTAACGGGACT	0.448000														45			58		0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170508449	170508449	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:170508449C>A	uc001gha.2	+	1	262	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Missense_Mutation_p.Q79K|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	79						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTGGGCTTCAAGATGGATC	0.463000														83			14		4.14922e-12	4.18735e-12	1	1	0
RARB	5915	broad.mit.edu	37	3	25216038	25216038	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:25216038G>A	uc011awl.2	+	0	216	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	50	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ATCCGCCTCCGAGTGGATGCA	0.552000														34			16		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240078470	240078470	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:240078470C>T	uc002vyk.4	-	7	1404	c.612_splice	c.e7-1	p.G204_splice	HDAC4_uc010fyz.1_Splice_Site_p.G199_splice|HDAC4_uc010zoa.1_Splice_Site_p.G199_splice|HDAC4_uc010fza.2_Splice_Site_p.G204_splice|HDAC4_uc010fyy.3_Splice_Site_p.G156_splice|HDAC4_uc010znz.1_Splice_Site_p.G87_splice|HDAC4_uc010fzb.1_5'Flank	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	204	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTGCGTTTTCCTGGAGAGAAG	0.547000														13			28		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377995	55377995	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55377995C>T	uc002qhl.4	+	8	1240	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	KIR3DL2_uc002qho.4_Missense_Mutation_p.P393S|KIR3DL2_uc010esh.3_Missense_Mutation_p.P376S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	393					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGAACAAGACCCTCAGGAGGT	0.502000														174			93		0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5463114	5463114	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:5463114C>T	uc003zje.3	+	3	783	c.675C>T	c.(673-675)gtC>gtT	p.V225V	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_3'UTR|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Silent_p.V111V	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	225	Ig-like C2-type.				T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CTGAATTGGTCATCCCAGGTA	0.393000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									24			39		0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90730419	90730419	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:90730419C>G	uc001xyf.3	+	5	548	c.500C>G	c.(499-501)aCg>aGg	p.T167R	PSMC1_uc001xyg.3_Missense_Mutation_p.T94R|PSMC1_uc001xyh.3_Missense_Mutation_p.T94R	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		ATGGATGACACGGATCCCCTG	0.483000														23			15		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944944	55944944	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55944944T>G	uc010qhy.1	-	12	1800	c.1405A>C	c.(1405-1407)Acc>Ccc	p.T469P	PCDH15_uc010qhq.2_Missense_Mutation_p.T469P|PCDH15_uc010qhr.2_Missense_Mutation_p.T464P|PCDH15_uc021pqv.1_Missense_Mutation_p.T464P|PCDH15_uc021pqw.1_Missense_Mutation_p.T476P|PCDH15_uc010qht.2_Missense_Mutation_p.T471P|PCDH15_uc021pqx.1_Missense_Mutation_p.T464P|PCDH15_uc001jjv.1_Missense_Mutation_p.T442P|PCDH15_uc021pqy.1_Missense_Mutation_p.T464P|PCDH15_uc021pqz.1_Missense_Mutation_p.T442P|PCDH15_uc010qhv.1_Missense_Mutation_p.T464P|PCDH15_uc010qhw.1_Missense_Mutation_p.T427P|PCDH15_uc010qhx.1_Missense_Mutation_p.T464P|PCDH15_uc010qhz.1_Missense_Mutation_p.T464P|PCDH15_uc010qia.1_Missense_Mutation_p.T442P|PCDH15_uc001jju.1_Missense_Mutation_p.T464P|PCDH15_uc010qib.1_Missense_Mutation_p.T442P|PCDH15_uc001jjw.3_Missense_Mutation_p.T464P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	464	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.T469S(1)|p.T464S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGTAAGGTGAGGTAGCGA	0.388000										HNSCC(58;0.16)				48			30		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	T	T	rs79388709		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000														44			3		0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132030860	132030860	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:132030860T>A	uc011ece.2	-	0	1298	c.1298A>T	c.(1297-1299)tAt>tTt	p.Y433F	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	433						integral to membrane				endometrium(1)|lung(1)	2						TAGCTTTCTATAGGTCTCCAG	0.388000														57			31		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36004293	36004293	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:36004293C>T	uc002nzm.4	-	0	268	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Missense_Mutation_p.E29K|DMKN_uc002nzn.4_Missense_Mutation_p.E29K|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.E29K|DMKN_uc002oaa.4_Missense_Mutation_p.E29K|DMKN_uc002oab.4_Missense_Mutation_p.E29K|DMKN_uc002oac.4_Missense_Mutation_p.E29K	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	29	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAGTGCTTTCCTCTCCGCTC	0.672000														44			25		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347561	74347561	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:74347561C>T	uc003hhb.3	+	0	100	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	23	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAACCCTGCCCACACAACCTC	0.299000														23			3		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:82125774G>A	uc003hmh.2	-	0	441	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_uc011cch.1_Missense_Mutation_p.S143F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000														327			73		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590696	83590696	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:83590696C>T	uc003uhz.3	-	16	2622	c.2307G>A	c.(2305-2307)agG>agA	p.R769R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	769	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCAGACACTCCTGGGTGCCC	0.418000														92			48		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26085091	26085091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:26085091G>A	uc001bkm.2	+	5	1268	c.938G>A	c.(937-939)tGg>tAg	p.W313*	MAN1C1_uc009vry.1_Nonsense_Mutation_p.W133*	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	313					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGTGGGAACTGGGGCTGGGCC	0.597000														27			24		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856764	90856764	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:90856764G>A	uc003hst.3	+	5	2004	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.D387N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	645					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGACTTATGATATGGAGAT	0.368000														34			32		0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69233100	69233100	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:69233100C>T	uc021rad.1	+	9	1118	c.644C>T	c.(643-645)cCa>cTa	p.P215L	MDM2_uc001sui.3_Missense_Mutation_p.P322L|MDM2_uc009zqx.3_Missense_Mutation_p.P267L|MDM2_uc001sun.4_Missense_Mutation_p.P141L|MDM2_uc009zra.3_Missense_Mutation_p.P115L|MDM2_uc021raf.1_Missense_Mutation_p.P6L|MDM2_uc009zrc.3_Missense_Mutation_p.P6L|MDM2_uc009zrd.3_Missense_Mutation_p.P6L|MDM2_uc009zre.3_Missense_Mutation_p.P63L|MDM2_uc001suo.3_Missense_Mutation_p.P116L|MDM2_uc009zrf.3_Missense_Mutation_p.P6L|MDM2_uc009zrg.3_Missense_Mutation_p.P38L|MDM2_uc009zrh.3_Missense_Mutation_p.P90L|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.P286L|MDM2_uc021rai.1_Missense_Mutation_p.P6L|MDM2_uc021raj.1_Missense_Mutation_p.P6L			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	316	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CCCCCCCTTCCATCACATTGC	0.423000			A		"""sarcoma, glioma, colorectal, other"""									75			48		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293814	45293814	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:45293814C>T	uc010olf.2	-	13	1771	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	PTCH2_uc021omv.1_Missense_Mutation_p.G587R|PTCH2_uc010olg.2_Missense_Mutation_p.G285R	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	587					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.D586D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGTACTGTCCCGTCCCCCAGC	0.582000									Basal Cell Nevus syndrome					97			19		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688573	111688573	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:111688573G>A	uc010hqa.3	+	15	3763	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E1102K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E1075K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E1118K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E1075K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E609K|PHLDB2_uc003dyj.3_Missense_Mutation_p.E173K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1118						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.K1118E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTCCGGAAGGAAGACTTTGA	0.453000														55			22		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553734	19553734	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:19553734C>T	uc001vuz.1	+	0	370	c.318C>T	c.(316-318)ttC>ttT	p.F106F	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	106										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGCTGCA	0.607000														676			66		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83778123	83778123	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:83778123G>A	uc003hnh.3	-	15	2043	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	SEC31A_uc003hne.3_Silent_p.S354S|SEC31A_uc011ccl.2_Silent_p.S582S|SEC31A_uc003hnl.3_Silent_p.S582S|SEC31A_uc003hng.3_Silent_p.S621S|SEC31A_uc011ccm.2_Silent_p.S616S|SEC31A_uc003hni.3_Silent_p.S621S|SEC31A_uc003hnk.3_Silent_p.S582S|SEC31A_uc003hnf.3_Silent_p.S621S|SEC31A_uc011ccn.2_Silent_p.S621S|SEC31A_uc003hnm.3_Silent_p.S621S|SEC31A_uc003hnn.2_Silent_p.S621S	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	621					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTTGCTTTGGGATTTTGCGA	0.328000														40			12		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609983	52609983	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:52609983C>T	uc002lfs.3	-	2	212	c.40G>A	c.(40-42)Gat>Aat	p.D14N	CCDC68_uc002lft.3_Missense_Mutation_p.D14N	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	14								p.D14Y(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCCATCTTATCCCTTGGGGGA	0.388000														32			20		0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724153	112724153	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:112724153G>A	uc010ljv.2	-	1	1141	c.624C>T	c.(622-624)ttC>ttT	p.F208F	GPR85_uc003vgp.1_Silent_p.F208F|GPR85_uc003vgq.2_Silent_p.F208F|GPR85_uc010ljw.1_Silent_p.F208F|GPR85_uc022akd.1_Silent_p.F208F	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GATCGTGGACGAAAAATATCA	0.498000														38			23		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43898005	43898005	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:43898005C>T	uc001cjk.2	+	35	5250	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1779						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGGCTTCTTCTTTGTGGCAG	0.592000														278			64		0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23481532	23481532	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:23481532G>A	uc001irp.3	+	0	73	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	25					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGACGAGGACGACTTCTTCAC	0.652000														37			27		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882710	152882710	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152882710G>A	uc021ozl.1	+	0	437	c.437G>A	c.(436-438)gGa>gAa	p.G146E	IVL_uc001fau.3_Missense_Mutation_p.G146E	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	146					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAACTGGGAATGAAGAAA	0.527000														16			15		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76854560	76854560	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:76854560C>T	uc001jwr.3	-	3	534	c.471G>A	c.(469-471)gaG>gaA	p.E157E	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.E250E|DUSP13_uc001jww.3_Silent_p.E207E|DUSP13_uc009xrs.3_Silent_p.E250E|DUSP13_uc001jwt.3_Silent_p.E250E|DUSP13_uc001jwv.3_Silent_p.E157E	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	148	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E157D(2)|p.E286D(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCGTCATGTTCTCACAGATCA	0.587000														29			12		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71740931	71740931	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:71740931G>A	uc010fen.3	+	6	780	c.639G>A	c.(637-639)ggG>ggA	p.G213G	DYSF_uc010fei.3_Silent_p.G212G|DYSF_uc010feh.3_Silent_p.G181G|DYSF_uc002sig.4_Silent_p.G181G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G212G|DYSF_uc010fee.3_Silent_p.G181G|DYSF_uc010fef.3_Silent_p.G212G|DYSF_uc002sie.3_Silent_p.G181G|DYSF_uc010feo.3_Silent_p.G213G|DYSF_uc010fej.3_Silent_p.G182G|DYSF_uc010fel.3_Silent_p.G182G|DYSF_uc010fem.3_Silent_p.G182G|DYSF_uc002sif.3_Silent_p.G182G|DYSF_uc010fek.3_Silent_p.G213G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	181	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G213G(1)|p.G181G(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGCCCGGGGGCTCCCACCA	0.592000														27			20		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133438100	133438100	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:133438100G>A	uc001ulf.2	-	6	824	c.740C>T	c.(739-741)cCc>cTc	p.P247L	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.P206L|CHFR_uc001ule.2_Missense_Mutation_p.P235L|CHFR_uc010tbs.1_Missense_Mutation_p.P247L|CHFR_uc010tbt.1_Missense_Mutation_p.P155L	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	247					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTGATCCTGGGGTTCCAACGA	0.537000														75			26		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250775	142250775	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142250775T>C	uc011ksf.2	-	1	287	c.272A>G	c.(271-273)gAt>gGt	p.D91G	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGGAAATCATCTGTGTTTGC	0.512000														59			43		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120386040	120386040	+	Silent	SNP	G	A	A	rs142262674		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:120386040G>A	uc003vjj.1	+	4	2639	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	558					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AACTCAGCACGATTCAGATCA	0.463000														29			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385279	41385279	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:41385279C>T	uc002yyq.1	-	32	6173	c.5721G>A	c.(5719-5721)atG>atA	p.M1907I	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.	1907				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				ACAAAAAGTCCATTCTAAGGT	0.498000														39			18		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130792711	130792711	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:130792711G>A	uc002tpz.2	-	7		c.2618C>T								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		CCACACCTGTGAACTGCAGCA	0.443000														16			11		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21534731	21534731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:21534731G>A	uc004czx.2	+	8	1419	c.939G>A	c.(937-939)tgG>tgA	p.W313*	CNKSR2_uc004czw.3_Nonsense_Mutation_p.W313*|CNKSR2_uc011mjn.2_Intron|CNKSR2_uc011mjo.2_Nonsense_Mutation_p.W313*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	313					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATATGAGATGGAAGCCCCTTG	0.413000														9			24		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78727930	78727930	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:78727930C>T	uc002jyt.1	+	5	1580	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	RPTOR_uc002jys.3_Missense_Mutation_p.P259S|RPTOR_uc010wuf.1_Missense_Mutation_p.P74S|RPTOR_uc010wug.1_Missense_Mutation_p.P259S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	259					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCCGACCTCCCGGCTGACCT	0.637000														168			77		0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152132142	152132142	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:152132142T>C	uc002txi.2	-	5	820	c.490A>G	c.(490-492)Att>Gtt	p.I164V	NMI_uc010zbx.1_3'UTR	NM_004688	NP_004679	Q13287	NMI_HUMAN	Homo sapiens N-myc (and STAT) interactor (NMI), mRNA.	164					JAK-STAT cascade|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GTGTCAGGAATTTCAGTAACA	0.398000														35			23		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22573922	22573922	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:22573922C>T	uc001wdb.2	+	1	179	c.142C>T	c.(142-144)Cct>Tct	p.P48S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		CTGCAGCTTCCCTTCCAGCAA	0.443000														4			6		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91722616	91722616	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:91722616A>T	uc003ulg.3	+	38	9789	c.9564A>T	c.(9562-9564)gaA>gaT	p.E3188D	AKAP9_uc003ulf.3_Missense_Mutation_p.E3180D|AKAP9_uc003uli.3_Missense_Mutation_p.E2811D|AKAP9_uc003ulj.3_Missense_Mutation_p.E958D|AKAP9_uc003ull.3_Missense_Mutation_p.E84D	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3192					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTAAAAGAATTGGAGGCTT	0.383000			T	BRAF	papillary thyroid									23			20		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915744	31915744	+	Silent	SNP	C	T	T	rs113410938		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:31915744C>T	uc003nyj.4	+	5	1061	c.783C>T	c.(781-783)atC>atT	p.I261I	CFB_uc011dor.2_Silent_p.I763I|CFB_uc003nyi.2_Silent_p.I261I	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	261					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCGGAAGATCGTCCTGGACC	0.542000														60			41		0	0	1	0	0
PPP1R8	5511	broad.mit.edu	37	1	28169742	28169742	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:28169742C>T	uc001bov.2	+	4	633	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	PPP1R8_uc009vtd.2_5'UTR|PPP1R8_uc001bow.2_Missense_Mutation_p.L38F|PPP1R8_uc001box.2_5'UTR|PPP1R8_uc021ojy.1_Missense_Mutation_p.L38F	NM_014110	NP_612568	Q12972	PP1R8_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA.	180	Interaction with EED.				RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GATTTCTACCCTTACCATTGA	0.473000														97			27		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185964010	185964010	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:185964010T>C	uc001grq.1	+	23	3798	c.3569T>C	c.(3568-3570)aTt>aCt	p.I1190T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1190	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTGGATATTCCATGTAAT	0.428000														74			12		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318683	30318683	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:30318683C>T	uc009xle.2	-	2	531	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	KIAA1462_uc001iux.3_Missense_Mutation_p.E132K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	132								p.E132K(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCAGGTTTTCGTGCTCCCTC	0.607000														115			56		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055399	75055399	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:75055399C>T	uc001dgg.3	-	11	2311	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E492K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	698	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						TTATCCTTTTCCTTTTCTTCT	0.458000														92			135		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141771262	141771262	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:141771262C>T	uc002tvj.1	-	13	3215	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	748					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G748*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAATTTCCATGATGCGA	0.378000										TSP Lung(27;0.18)				48			22		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78221940	78221940	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:78221940C>T	uc002jyb.2	+	13	1612	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	SLC26A11_uc002jyc.2_Silent_p.L436L|SLC26A11_uc002jyd.2_Silent_p.L436L|SLC26A11_uc010dhv.2_Silent_p.L436L	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	436						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGGACCTGCTGCCCCTGTG	0.667000														13			12		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172411041	172411041	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:172411041C>T	uc002ugy.4	+	3	755	c.565C>T	c.(565-567)Cct>Tct	p.P189S	CYBRD1_uc002ugz.4_Missense_Mutation_p.S119F	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	189	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TAGGAGAGATCCTGCATACAG	0.423000														18			9		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43865642	43865642	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43865642C>T	uc002owi.3	+	8	1031	c.989C>T	c.(988-990)cCc>cTc	p.P330L	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	331	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGTGTGCAGCCCCTTGGAACC	0.607000														19			15		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903137	22903137	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:22903137C>T	uc001bfx.1	+	2	712	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EPHA8_uc001bfw.3_Missense_Mutation_p.S196F	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	196	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCATCCTCTCTCTCCGCATC	0.622000														62			12		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78326665	78326665	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:78326665G>A	uc003kfs.3	-	9	1680	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V	DMGDH_uc011cte.1_Silent_p.V408V|DMGDH_uc011ctf.1_Silent_p.V357V|DMGDH_uc011ctg.1_Silent_p.V178V	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	558					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTTTGGAATGACATTTGCAA	0.378000														27			5		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053559	176053559	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:176053559G>A	uc010jke.1	-	1	719	c.325C>T	c.(325-327)Cct>Tct	p.P109S	SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity	p.E109K(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAGCCAGGGGGAAACACC	0.637000														24			11		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97093868	97093868	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:97093868G>A	uc021rcc.1	+	12	1824	c.1746G>A	c.(1744-1746)atG>atA	p.M582I				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	582										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGGAAAAATGAAGGTAACCT	0.353000														54			33		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741101	140741101	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140741101C>T	uc003ljs.2	+	0	1399	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.P467S|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	469	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAATCCTCCTGGCGCCTC	0.552000														66			40		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118011948	118011948	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:118011948G>A	uc001pse.3	-	3	809	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SCN4B_uc010rxu.2_Silent_p.F79F|SCN4B_uc010rxv.2_Silent_p.F55F	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	189						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		TCTTCAGGATGAAGATGATGA	0.542000														44			15		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959121	2959121	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:2959121C>T	uc003smv.3	-	17	2729	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	799					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCACAACATCGTCACACTTC	0.597000			Mis		DLBCL									20			18		0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153429380	153429380	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153429380T>G	uc010jib.2	+	1	317	c.98T>G	c.(97-99)cTg>cGg	p.L33R	MFAP3_uc011ddb.1_Intron|MFAP3_uc003lvf.2_Missense_Mutation_p.L33R	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	33						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGGTTTCACTGGAAGCAAAT	0.428000														22			21		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54013895	54013896	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54013895_54013896CC>TT	uc011dxa.2	+	4	2292_2293	c.2259_2260CC>TT	c.(2257-2262)atccct>atTTct	p.P754S	MLIP_uc003pcf.2_Missense_Mutation_p.P743S|MLIP_uc003pcg.4_Missense_Mutation_p.P219S|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	219						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTGCAGCAATCCCTACAAACAC	0.342000														40			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140362115	140362115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140362115C>T	uc003lii.3	+	2	3285	c.2680C>T	c.(2680-2682)Cag>Tag	p.Q894*	PCDHAC2_uc003lha.2_Nonsense_Mutation_p.Q573*|PCDHAC2_uc003lhb.2_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lhd.2_Nonsense_Mutation_p.Q835*|PCDHAC2_uc003lhf.2_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lhh.1_Nonsense_Mutation_p.Q834*|PCDHAC2_uc003lhi.2_Nonsense_Mutation_p.Q834*|PCDHAC2_uc003lhl.2_Nonsense_Mutation_p.Q823*|PCDHAC2_uc003lhk.1_Nonsense_Mutation_p.Q823*|PCDHAC2_uc003lho.2_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lhn.2_Nonsense_Mutation_p.Q573*|PCDHAC2_uc003lhq.2_Nonsense_Mutation_p.Q824*|PCDHAC2_uc003lhs.2_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lhu.2_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lhw.2_Nonsense_Mutation_p.Q572*|PCDHAC2_uc003lhx.2_Nonsense_Mutation_p.Q835*|PCDHAC2_uc003lia.2_Nonsense_Mutation_p.Q836*|PCDHAC2_uc003lic.2_Nonsense_Mutation_p.Q828*|PCDHAC2_uc003lif.2_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lie.1_Nonsense_Mutation_p.Q837*|PCDHAC2_uc003lih.2_Nonsense_Mutation_p.Q850*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	894	4 X 4 AA repeats of P-X-X-P.				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)			AGGGCCTGATCAGCAGTGGCC	0.483000														34			9		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473780	31473780	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:31473780C>T	uc010vfn.2	+	4	1321	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	ARMC5_uc010vfo.2_Silent_p.I336I|ARMC5_uc002ecc.3_Silent_p.I304I|ARMC5_uc002eca.4_Silent_p.I304I|ARMC5_uc002ecb.2_Silent_p.I304I|ARMC5_uc010vfp.2_Intron	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	304							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCATTCTGATCCTCGCCAACC	0.652000														14			23		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363528	22363528	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22363528G>A	uc002nqs.1	-	2	1309	c.991C>T	c.(991-993)Cat>Tat	p.H331Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGCATGAATTCTCTTG	0.408000														67			6		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21883801	21883801	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:21883801C>T	uc001war.2	-	6	1965	c.1900_splice	c.e6-1	p.E634_splice	CHD8_uc001was.2_Splice_Site_p.E355_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	634					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGGATTCTCCTGCAGCAAA	0.398000														33			20		0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23240327	23240327	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:23240327C>T	uc003svu.3	+	6	1494	c.1235C>T	c.(1234-1236)cCa>cTa	p.P412L	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_Missense_Mutation_p.P184L	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	412	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAAAATTCCATTAAAGCCT	0.318000														44			29		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792498	35792498	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:35792498C>T	uc003jjo.3	+	30	4615	c.4504C>T	c.(4504-4506)Ctt>Ttt	p.L1502F	SPEF2_uc003jjp.1_Missense_Mutation_p.L988F|SPEF2_uc003jjr.3_Missense_Mutation_p.L557F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1502					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACCCTGAACCTTGGCACAAA	0.348000														69			24		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797724	148797724	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:148797724C>T	uc004fdq.3	+	4	733	c.578C>T	c.(577-579)tCt>tTt	p.S193F	MAGEA11_uc004fdr.3_Missense_Mutation_p.S164F	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	193						cytoplasm|nucleus	protein binding	p.Q193H(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGCCTATCTGATGAGGGC	0.532000														9			33		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485973	8485973	+	Silent	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:8485973A>G	uc003zkk.3	-	27	3587	c.2844T>C	c.(2842-2844)aaT>aaC	p.N948N	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	948	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATAATGCCATTTCTCTCTG	0.473000										TSP Lung(15;0.13)				25			42		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561484	84561484	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:84561484G>A	uc002bjz.4	+	12	1535	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	ADAMTSL3_uc010bmt.1_Silent_p.G437G	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	437	TSP type-1 2.					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)			GTGGAGGAGGGATTCAGAGAC	0.418000														13			12		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948490	63948490	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:63948490G>A	uc002amp.3	-	48	9815	c.9667C>T	c.(9667-9669)Cga>Tga	p.R3223*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3223					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACATTAATCGAACTAGCGTT	0.532000														33			9		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585234	43585234	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43585234G>A	uc002ovr.3	-	1	401	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	77	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAATGTAATGGTAGAGGTCC	0.423000														129			70		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430406	135430406	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:135430406C>T	uc004ezu.1	+	5	4832	c.4541C>T	c.(4540-4542)tCc>tTc	p.S1514F	GPR112_uc010nsb.1_Missense_Mutation_p.S1309F|GPR112_uc010nsc.1_Missense_Mutation_p.S1281F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACCAGATGTCCTCATTGCCA	0.423000														14			42		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837005	196837005	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:196837005G>A	uc002utj.4	-	15	2120	c.2019C>T	c.(2017-2019)atC>atT	p.I673I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	673	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						TCTCTTTAATGATTTTCCTGT	0.318000														27			19		0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11534590	11534590	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:11534590T>A	uc002mrs.3	-	7	1215	c.1072A>T	c.(1072-1074)Atc>Ttc	p.I358F	CCDC151_uc002mrr.3_Missense_Mutation_p.I293F|CCDC151_uc010dxz.3_Missense_Mutation_p.I298F	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	358										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTGCCAAAGATCACCTCCATC	0.667000														82			48		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:48267238G>A	uc001ngs.1	+	0	583	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G195V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000														99			94		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27777653	27777653	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:27777653C>T	uc002dow.3	+	19	3857	c.3833C>T	c.(3832-3834)aCc>aTc	p.T1278I		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1278										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACCAACATCACCATGGAGGAT	0.647000														70			20		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546833	85546833	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:85546833C>T	uc001tac.3	+	20	4562	c.4451C>T	c.(4450-4452)tCa>tTa	p.S1484L		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGATACTTCATTTAATTTA	0.279000														36			15		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35624492	35624492	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:35624492G>A	uc021rid.1	+	5	1466	c.932G>A	c.(931-933)gGt>gAt	p.G311D	NBEA_uc021ric.1_Missense_Mutation_p.G311D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	311						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)		AAAGGAAAAGGTTTTCAGCAT	0.348000														21			7		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51993369	51993369	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:51993369G>A	uc002abh.3	+	9	1538	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	SCG3_uc010ufz.2_Missense_Mutation_p.E147K	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	379					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GATGGAAAAGGAATATGGAAG	0.433000														82			19		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151597692	151597692	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:151597692C>T	uc003ezf.2	+	1	117	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	4						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGCTGGGGATCATGGTATGTT	0.333000														20			10		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033106	20033106	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:20033106G>A	uc002wrs.3	-	1	396	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.P110S	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	122					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						ACCGGAAGCGGAACTTGCAGG	0.597000														50			8		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625252	74625252	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:74625252G>A	uc002jsh.3	-	1	847	c.673C>T	c.(673-675)Cca>Tca	p.P225S	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.P93S|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	225					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCTTAGGTGGGATGACTGCT	0.557000														60			23		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149912879	149912879	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:149912879C>T	uc004feh.1	+	12	1655	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	MTMR1_uc011mya.1_Missense_Mutation_p.P405L|MTMR1_uc004fei.3_Missense_Mutation_p.P499L|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	499	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACCGATCTCCCATATTTCTG	0.373000														21			36		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416390	56416390	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56416390C>T	uc010ygg.2	-	7	2561	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	846							ATP binding	p.G846R(2)|p.L845L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGATTAAATCCCAGGCACAAT	0.512000														38			23		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587470	135587470	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:135587470G>A	uc003lbn.2	-	5	1668	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRPC7_uc010jef.2_Silent_p.F418F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.F33F|TRPC7_uc010jeh.2_Silent_p.F421F|TRPC7_uc010jei.2_Silent_p.F366F	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	482					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAGGCCACGAAGATGGACA	0.572000														31			15		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688163	55688163	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:55688163G>A	uc010sph.2	-	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAAATGAAGGGATTTAGTAA	0.348000														42			29		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38534056	38534056	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:38534056C>T	uc003tgu.3	-	3	493	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	AMPH_uc003tgv.3_Missense_Mutation_p.E93K	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	93	BAR.				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						TTCACATCTTCCCGCCCATAC	0.547000														78			43		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5047525	5047525	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:5047525C>T	uc010xim.2	+	4	579	c.471C>T	c.(469-471)atC>atT	p.I157I	KDM4B_uc010xil.1_Silent_p.I157I|KDM4B_uc002mbq.4_Silent_p.I157I	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	157	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCCGGACCATCCTGGACATGG	0.677000														45			32		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4119493	4119493	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:4119493G>A	uc003mwf.3	-	7	849	c.812C>T	c.(811-813)cCa>cTa	p.P271L	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Missense_Mutation_p.P241L|ECI2_uc003mwc.3_Missense_Mutation_p.P99L|ECI2_uc003mwd.3_Missense_Mutation_p.P241L|ECI2_uc003mwe.3_Missense_Mutation_p.P118L|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	271	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GTGACTAAATGGTGTATGAAA	0.378000														51			26		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71142303	71142303	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:71142303C>T	uc001jpl.4	+	9	1427	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	HK1_uc001jpg.4_Silent_p.F430F|HK1_uc001jph.4_Silent_p.F446F|HK1_uc001jpi.4_Silent_p.F446F|HK1_uc001jpj.4_Silent_p.F477F|HK1_uc001jpk.4_Silent_p.F441F|HK1_uc009xqd.3_Silent_p.F320F	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	442	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGTGCGCTTCCTCCTCTCGG	0.637000														51			34		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46622951	46622951	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:46622951C>T	uc009zkj.1	-	4	984	c.299G>A	c.(298-300)gGa>gAa	p.G100E	SLC38A1_uc001rpb.3_Missense_Mutation_p.G100E|SLC38A1_uc001rpc.3_Missense_Mutation_p.G100E|SLC38A1_uc001rpd.3_Missense_Mutation_p.G100E|SLC38A1_uc001rpe.3_Missense_Mutation_p.G100E|SLC38A1_uc010slh.2_Missense_Mutation_p.G73E|SLC38A1_uc001rpa.3_Missense_Mutation_p.G100E	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	100					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGTAGGATTCCAGTGTTTGC	0.398000														5			10		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840692	107840692	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:107840692G>A	uc022ccg.1	+	23	1875	c.1673G>A	c.(1672-1674)gGt>gAt	p.G558D	COL4A5_uc004enz.1_Missense_Mutation_p.G558D|COL4A5_uc004eob.1_Missense_Mutation_p.G166D	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	558	Triple-helical region.		G -> R (in APSX).		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						GGAATGAAGGGTGACAAAGGA	0.547000									Alport syndrome with Diffuse Leiomyomatosis					13			27		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525765	42525765	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:42525765G>A	uc003bce.3	-	1	417	c.327C>T	c.(325-327)atC>atT	p.I109I	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Silent_p.I109I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	109							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGAAACCCAGGATCTGGGTGA	0.697000														33			17		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129640	3129640	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:3129640C>T	uc021vzx.1	-	0	77	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.R26Q	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	26					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGACACACTTCGGACTGCACC	0.453000														62			19		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725389	4725389	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:4725389C>T	uc003bqc.3	+	26	3710	c.3360C>T	c.(3358-3360)atC>atT	p.I1120I	ITPR1_uc021wsi.1_Silent_p.I1126I|ITPR1_uc021wsj.1_Silent_p.I1111I|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1135					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGAGGTCCATCGTGGAAAAGT	0.468000														60			41		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977342	6977342	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6977342C>T	uc001mey.3	+	6	1722	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Silent_p.S140S|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	378					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N377I(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAATGAATTCCTATGAATGTT	0.373000														18			19		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153355	5153355	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5153355C>T	uc010qyx.2	-	0	518	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R173Q(2)|p.R173*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACTGTAGTTCGATAGTGTTT	0.448000														54			40		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470695	111470695	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:111470695C>T	uc003iab.4	+	15	2579	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	746					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTACTCCGTTCCTCCGTGTTA	0.383000														71			22		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516904	157516904	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:157516904C>T	uc009wsm.3	-	2	294	c.136G>A	c.(136-138)Gga>Aga	p.G46R	FCRL5_uc001fqu.3_Missense_Mutation_p.G46R|FCRL5_uc010phv.1_Missense_Mutation_p.G46R|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.G46R|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	46	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AAGCGAAATCCCTTGCAAGTG	0.473000														98			50		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326716	37326716	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:37326716G>A	uc003aqa.4	+	8	1072	c.855_splice	c.e8-1	p.G285_splice	CSF2RB_uc003aqc.4_Missense_Mutation_p.E292K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	285					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCTCCTCAGGGAGGAAGAGTG	0.682000														27			19		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65240079	65240079	+	Silent	SNP	C	G	G	rs145156898		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:65240079C>G	uc001xht.3	-	23	5088	c.5037G>C	c.(5035-5037)gcG>gcC	p.A1679A	SPTB_uc001xhr.3_Silent_p.A1679A|SPTB_uc001xhs.3_Silent_p.A1679A|SPTB_uc001xhu.3_Silent_p.A1679A|SPTB_uc010aqi.3_Silent_p.A340A	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1679					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGCTCTTCCGCCACGTCCT	0.552000														98			57		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2788828	2788828	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:2788828C>T	uc009zdu.1	+	43	5767	c.5454C>T	c.(5452-5454)gcC>gcT	p.A1818A	CACNA1C_uc001qkc.2_Silent_p.A1789A|CACNA1C_uc001qjz.2_Silent_p.A1770A|CACNA1C_uc001qkd.2_Silent_p.A1789A|CACNA1C_uc001qke.2_Silent_p.A1759A|CACNA1C_uc001qkf.2_Silent_p.A1778A|CACNA1C_uc009zdw.1_Silent_p.A1811A|CACNA1C_uc001qkg.2_Silent_p.A1776A|CACNA1C_uc001qkh.2_Silent_p.A1778A|CACNA1C_uc001qkl.2_Silent_p.A1818A|CACNA1C_uc001qkj.2_Silent_p.A1770A|CACNA1C_uc001qkk.2_Silent_p.A1770A|CACNA1C_uc001qkn.2_Silent_p.A1770A|CACNA1C_uc001qkm.2_Silent_p.A1759A|CACNA1C_uc001qko.2_Silent_p.A1790A|CACNA1C_uc001qkp.2_Silent_p.A1770A|CACNA1C_uc001qkq.2_Silent_p.A1798A|CACNA1C_uc001qku.2_Silent_p.A1770A|CACNA1C_uc001qkr.2_Silent_p.A1787A|CACNA1C_uc001qks.2_Silent_p.A1770A|CACNA1C_uc001qkt.2_Silent_p.A1789A|CACNA1C_uc009zdv.1_Silent_p.A1767A|CACNA1C_uc001qkb.2_Silent_p.A1770A|CACNA1C_uc001qki.1_Silent_p.A1506A|CACNA1C_uc010sea.1_Silent_p.A461A|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.A88A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1818					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)	TCAACAACGCCAACAACACCG	0.682000														6			15		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946296	72946296	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:72946296C>T	uc021qna.1	+	0	1092	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	P2RY2_uc001otk.3_Silent_p.S364S|P2RY2_uc001otj.3_Silent_p.S364S|P2RY2_uc001otl.3_Silent_p.S364S	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	364					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACAGAGTCCACGCCGGCTG	0.572000														55			46		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635725	39635725	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:39635725C>T	uc002hws.3	-	2	628	c.585G>A	c.(583-585)ctG>ctA	p.L195L		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	195	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGACTCCACCAGCTGCCGCA	0.592000														70			34		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24259437C>T	uc003xdz.2	+	11	1372	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ADAMDEC1_uc010lub.2_Silent_p.F305F|ADAMDEC1_uc011lab.1_Silent_p.F305F	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTTCAAAATTCCCAAAGGATT	0.363000														29			21		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38374132	38374132	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:38374132C>T	uc003aun.1	-	2	717	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.E147K	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	147						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TTGTCACTTTCGTTCAGCAGC	0.617000														4			5		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50294495	50294495	+	Silent	SNP	C	T	T	rs142945610		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:50294495C>T	uc003cyq.1	+	6	971	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	GNAI2_uc003cyo.1_Silent_p.L268L|GNAI2_uc003cyp.1_Silent_p.L268L|GNAI2_uc010hlg.1_Silent_p.L203L|GNAI2_uc011bdn.2_Silent_p.L247L|GNAI2_uc003cyr.1_Silent_p.L203L	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	284					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.L284L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ACACAGTCCCCTGACCATCTG	0.527000											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			39		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9452379	9452379	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9452379C>T	uc002mle.4	+	5	851	c.444C>T	c.(442-444)aaC>aaT	p.N148N	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Silent_p.N42N|ZNF559_uc010xkn.2_Silent_p.N76N|ZNF559_uc021uok.1_Silent_p.N84N|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGGAGAGAAACCATTTTGGAG	0.348000														39			21		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248224664G>A	uc001idx.1	+	0	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468000														86			84		0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103696260	103696260	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:103696260G>A	uc001tjt.2	-	5	797	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.P237S|C12orf42_uc001tju.2_Missense_Mutation_p.P142S	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	237										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTGTTACTCGGGCCGGTGCTC	0.662000														28			29		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000														192			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90078243	90078243	+	RNA	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:90078243C>T	uc010yts.2	+	23		c.2859C>T								Parts of antibodies, mostly variable regions.																		AGACTTCACTCTCACCATCAG	0.537000														30			11		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33771816	33771816	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:33771816C>T	uc002hjk.1	-	0	1214	c.884G>A	c.(883-885)aGc>aAc	p.S295N	SLFN13_uc010wch.1_Missense_Mutation_p.S295N|SLFN13_uc002hjl.2_Missense_Mutation_p.S295N|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	295						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)		GATTTTGGTGCTGTACTCTAC	0.418000														102			70		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575778	52575778	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:52575778G>A	uc001jjj.3	-	8	1317	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	A1CF_uc010qho.2_Missense_Mutation_p.P385S|A1CF_uc010qhn.2_Missense_Mutation_p.P385S|A1CF_uc009xov.3_Missense_Mutation_p.P377S|A1CF_uc001jji.3_Missense_Mutation_p.P377S|A1CF_uc001jjh.3_Missense_Mutation_p.P385S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	377	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						CTAACAGAAGGGGCTCGGATA	0.468000														64			30		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768411	117768411	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:117768411G>A	uc001twn.2	-	1	1175	c.464C>T	c.(463-465)cCc>cTc	p.P155L	NOS1_uc001twm.2_Missense_Mutation_p.P155L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	155	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCATTCCCGGGACCCGAGGC	0.706000														73			33		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389971	128389971	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:128389971C>T	uc002top.3	+	37	5375	c.5322C>T	c.(5320-5322)gtC>gtT	p.V1774V	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1774	MyTH4 2.					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)		TCCAGAAGGTCCTGAGGTGAG	0.672000														78			30		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457462	110457462	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:110457462C>T	uc003yne.3	+	37	5468	c.5364C>T	c.(5362-5364)ttC>ttT	p.F1788F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1788	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCAACAGTTCAGAGCAATAG	0.418000										HNSCC(38;0.096)				59			35		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71420182	71420182	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:71420182G>A	uc010dfm.3	-	12	1633	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	SDK2_uc010dfn.2_Missense_Mutation_p.R224C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	545	Ig-like C2-type 6.				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						AGGCGGATACGAGGATGGCTC	0.587000														16			8		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512910	41512910	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:41512910C>T	uc002opr.1	+	3	592	c.585C>T	c.(583-585)ttC>ttT	p.F195F	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	195					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ATCAAGAGTTCCTGAAGATGC	0.532000														62			49		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378853	55378853	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55378853C>T	uc003pcn.3	-	5	784	c.625G>A	c.(625-627)Gca>Aca	p.A209T	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.A179T|HMGCLL1_uc010jzx.3_Missense_Mutation_p.A80T|HMGCLL1_uc011dxc.2_Missense_Mutation_p.A147T|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Missense_Mutation_p.A147T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	209							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCCTCGTGCTGGAATATTC	0.303000														38			21		0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534961	6534961	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:6534961C>T	uc002mfh.2	+	2	687	c.649C>T	c.(649-651)Cac>Tac	p.H217Y		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	217					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CGTCCATCTTCACACTGAGGC	0.682000														22			5		0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054881	4054881	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:4054881G>A	uc002lzh.3	-	1	425	c.350C>T	c.(349-351)cCc>cTc	p.P117L	ZBTB7A_uc002lzi.3_Missense_Mutation_p.P117L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	117					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCACGGCGGGGATCTCCAG	0.687000														9			5		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691551	3691551	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:3691551C>T	uc002qya.3	+	6	807	c.659C>T	c.(658-660)tCc>tTc	p.S220F	COLEC11_uc002qxz.3_Missense_Mutation_p.S217F|COLEC11_uc002qyb.3_Missense_Mutation_p.S196F|COLEC11_uc002qyc.3_Missense_Mutation_p.S196F|COLEC11_uc010ewo.3_Missense_Mutation_p.S172F|COLEC11_uc010ewp.3_Missense_Mutation_p.S194F|COLEC11_uc010ewq.3_Missense_Mutation_p.S170F|COLEC11_uc010ewr.3_Missense_Mutation_p.S170F|COLEC11_uc010ews.3_Missense_Mutation_p.S146F	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	220	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCTGACCACTCCCCCATGCGG	0.647000														41			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188614	140188614	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140188614G>A	uc003lhi.2	+	0	1943	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.G614G|PCDHAC2_uc011daa.2_Silent_p.G614G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	626	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)			TGCAGCCGGGGACTGGTGGCG	0.682000														59			29		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369258	78369259	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:78369258_78369259CC>TT	uc001ozl.4	-	33	8617_8618	c.8154_8155GG>AA	c.(8152-8157)cgggcc>cgAAcc	p.A2719T	ODZ4_uc001ozk.4_Missense_Mutation_p.A944T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2719					signal transduction	integral to membrane		p.R2718L(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCTGTCCAGGCCCGCAGGCCTT	0.663000														61			21		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158653262	158653262	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158653262G>A	uc001fst.1	-	2	488	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	97					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCTTCAAGGGATTGATGC	0.398000														37			24		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78598746	78598746	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:78598746C>T	uc001syp.3	+	38	7039	c.6866C>T	c.(6865-6867)cCt>cTt	p.P2289L	NAV3_uc001syo.3_Missense_Mutation_p.P2267L|NAV3_uc010sub.2_Missense_Mutation_p.P1746L|NAV3_uc009zsf.3_Missense_Mutation_p.P1098L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2289						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGAAGATCCTTCAAAGTGG	0.453000										HNSCC(70;0.22)				29			14		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809378	5809378	+	Silent	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5809378A>T	uc010qzo.2	-	0	669	c.669T>A	c.(667-669)atT>atA	p.I223I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTGCTTGAAGAATCATAGTGT	0.478000														28			10		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154801016	154801016	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:154801016G>A	uc002tyt.4	+	0	110	c.6G>A	c.(4-6)agG>agA	p.R2R	GALNT13_uc002tyr.4_Silent_p.R2R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	2						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGACATGAGGAGATTTGTCT	0.413000														55			36		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16026862	16026862	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:16026862C>T	uc003goo.2	-	4	795	c.583G>A	c.(583-585)Gat>Aat	p.D195N	PROM1_uc003gor.2_Missense_Mutation_p.D195N|PROM1_uc003gos.2_Missense_Mutation_p.D186N|PROM1_uc003got.2_Missense_Mutation_p.D195N|PROM1_uc003gou.2_Missense_Mutation_p.D186N|PROM1_uc003gop.2_Missense_Mutation_p.D186N|PROM1_uc003goq.3_Missense_Mutation_p.D186N|PROM1_uc010iec.1_Missense_Mutation_p.D73N	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	195					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAATTGCTATCTGCCAGTTTC	0.423000														69			54		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483774	31483774	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:31483774G>A	uc002rnu.3	+	3	1509	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	301					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)					CATCAAAAGGGCCAGGCTGGC	0.627000														24			33		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884919	12884919	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:12884919G>A	uc001auk.2	-	3	1388	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	398										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTTCATCAGCTCAGCCCTA	0.498000														208			46		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999824	46999824	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:46999824C>T	uc001jec.3	+	2	1079	c.944C>T	c.(943-945)aCc>aTc	p.T315I	GPRIN2_uc021ppt.1_Missense_Mutation_p.T315I	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	315										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GATGTGTGGACCATGACCTCA	0.642000														81			22		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523210	92523210	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:92523210C>T	uc001pdj.4	+	6	4454	c.4437C>T	c.(4435-4437)atC>atT	p.I1479I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1479	Cadherin 14.				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)				ACACGGAGATCCTGCAGATTG	0.443000										TCGA Ovarian(4;0.039)				95			24		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177093643	177093643	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:177093643C>T	uc003iuj.3	+	25	3640	c.3337C>T	c.(3337-3339)Cct>Tct	p.P1113S	WDR17_uc003ium.4_Missense_Mutation_p.P1074S|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.P324S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1113								p.P1113H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAAAGCCCTTCCTATTGGTAT	0.313000														16			5		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414665	17414665	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:17414665T>G	uc001mnc.3	-	38	4745	c.4619A>C	c.(4618-4620)cAc>cCc	p.H1540P		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1540	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGGATGGTGTGCACTCGATG	0.642000														29			12		0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48848458	48848458	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:48848458C>T	uc002pix.1	-	3	532	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Intron|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_5'UTR|TMEM143_uc002piy.1_Missense_Mutation_p.A140T|TMEM143_uc010xzp.1_Intron|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	175						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		AGCGCGTAGGCCAGGGTGTCC	0.632000														75			36		0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4859292	4859292	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:4859292C>T	uc010vst.2	+	3	611	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ENO3_uc002gab.4_Silent_p.F307F|ENO3_uc002gac.4_Silent_p.F307F|ENO3_uc010vss.2_Silent_p.F264F	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	307					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGACCTCCTTCCTCTCGGGGG	0.577000														106			44		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215821889	215821889	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:215821889G>A	uc001hku.1	-	65	14950	c.14563C>T	c.(14563-14565)Ccc>Tcc	p.P4855S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4855	Fibronectin type-III 34.				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.P4855S(2)		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)		ACACCATTGGGGAACATGGGG	0.537000										HNSCC(13;0.011)				29			58		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158978093	158978093	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:158978093C>T	uc002tzo.3	+	6	818	c.798C>T	c.(796-798)ctC>ctT	p.L266L	UPP2_uc002tzp.3_Silent_p.L209L	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	209					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L209L(1)|p.L266L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TCCCAACCCTCGTTGGACATA	0.378000														54			18		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775791	24775791	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24775791G>A	uc003xed.4	+	2	2456	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	NEFM_uc011lac.1_Missense_Mutation_p.G590E|NEFM_uc010lue.3_Missense_Mutation_p.G432E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	808	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggtagaaggaaaagaggag	0.532000														13			7		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123615810	123615810	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:123615810T>A	uc010nqy.3	-	21	3785	c.3721A>T	c.(3721-3723)Agt>Tgt	p.S1241C	ODZ1_uc011muj.2_Missense_Mutation_p.S1240C|ODZ1_uc004euj.3_Missense_Mutation_p.S1234C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1234					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						TGAGCAGGACTTGTGCTAAGG	0.393000														7			34		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552434	56552434	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56552434C>T	uc002qmj.3	+	10	2933	c.2933C>T	c.(2932-2934)cCc>cTc	p.P978L	NLRP5_uc002qmi.3_Missense_Mutation_p.P959L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	978						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)		ATGAGGCTTCCCCACTGTAGT	0.532000														117			64		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:29625891C>G	uc010ztl.1	+	1	77	c.45C>G	c.(43-45)ggC>ggG	p.G15G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000														81			4		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292266	6292266	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6292266C>T	uc001mcp.3	+	4	1092	c.837C>T	c.(835-837)tgC>tgT	p.C279C	CCKBR_uc001mcq.3_Silent_p.C207C|CCKBR_uc001mcr.3_Silent_p.C279C|CCKBR_uc001mcs.3_Silent_p.C348C|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.R278H(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACGGGCGTTGCCGGCCTGAGA	0.662000														42			26		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962837	73962837	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73962837C>T	uc004eby.3	-	2	2172	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	519					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCATCATCTTCCTCTTTG	0.383000														6			18		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7152774	7152774	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:7152774A>T	uc002mgd.1	-	9	2303	c.2194T>A	c.(2194-2196)Ttt>Att	p.F732I	INSR_uc002mge.1_Missense_Mutation_p.F732I|INSR_uc002mgf.3_Missense_Mutation_p.F732I	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	732					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATCCTCAAACGTCTTCCTA	0.547000														109			59		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097907	43097907	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43097907C>T	uc002oud.2	-	1	312	c.210G>A	c.(208-210)ggG>ggA	p.G70G	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	70	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCACTGTTTCCCCTTTGTACC	0.483000														128			83		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019619	75019619	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:75019619C>T	uc001xqa.3	-	4	1555	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	390					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.D390Y(2)		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)		GACTTGGGATCGTGCCCATGG	0.632000														12			11		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:2928774G>A	uc003bpc.3	+	9	1145	c.806G>A	c.(805-807)aGg>aAg	p.R269K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R269K|CNTN4_uc003bpd.1_Missense_Mutation_p.R269K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	269	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAGCAAGGAAAGCCAGA	0.408000														12			15		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548834	17548834	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:17548834G>A	uc001mnf.3	-	4	541	c.432C>T	c.(430-432)tcC>tcT	p.S144S	USH1C_uc001mne.3_Silent_p.S144S|USH1C_uc009yhb.3_Silent_p.S144S|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.S108S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	144	PDZ 1.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATGGGTACAGGAGGAGATGG	0.547000														56			11		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220273854	220273854	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:220273854G>A	uc001hmc.3	+	2	517	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	138					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATAGCCAATCGATTCCATATG	0.328000														16			20		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127668664	127668664	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:127668664G>A	uc003kuu.3	-	31	4601	c.4162C>T	c.(4162-4164)Cca>Tca	p.P1388S	FBN2_uc003kuv.2_Missense_Mutation_p.P1355S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1388	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCTTCCTGGGATATTCAGA	0.398000														90			53		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030534	3030534	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:3030534G>A	uc002fvc.1	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAAATAACATGAAAAAATACA	0.483000														33			21		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565507	24565507	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:24565507G>A	uc002wtw.1	+	2	1129	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	166					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.D166N(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTACTCAAGCGACACAGAGAG	0.567000														40			39		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043678	87043678	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:87043678G>A	uc009wcs.3	+	11	2089	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E	CLCA4_uc009wct.3_Missense_Mutation_p.G445E|CLCA4_uc009wcu.3_Missense_Mutation_p.G502E	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	682						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGGGCTCATGGAGGAGCAAAC	0.433000														22			3		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25840015	25840015	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:25840015G>A	uc001isj.3	+	6	1574	c.1514_splice	c.e6+1	p.R505_splice		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	505						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AACTTCACAGGTATATACATT	0.408000														58			24		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105936	72105936	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:72105936G>A	uc002ati.3	+	6	1144	c.954G>A	c.(952-954)acG>acA	p.T318T	NR2E3_uc002ath.1_Silent_p.T318T	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	318					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGACCCCCACGGAGTTTGCCT	0.602000														12			19		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014077	25014077	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:25014077C>T	uc003grf.2	-	6	799	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	234						extracellular region		p.V233V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTGAACGTATCCACTGAAACC	0.463000														49			31		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36776363	36776363	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:36776363C>T	uc002xhr.3	-	5	781	c.681_splice	c.e5+1	p.M227_splice	TGM2_uc010zvx.2_Splice_Site_p.M146_splice|TGM2_uc010zvy.2_Splice_Site_p.M167_splice|TGM2_uc002xhs.1_Splice_Site_p.M203_splice|TGM2_uc002xht.3_Splice_Site_p.M227_splice|TGM2_uc002xhu.3_Splice_Site_p.M227_splice	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	227					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACTCACTCACCATGCCACTCA	0.677000														15			6		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573889	64573889	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64573889G>A	uc010qio.2	-	2	568	c.548C>T	c.(547-549)cCt>cTt	p.P183L	EGR2_uc010qim.2_Missense_Mutation_p.P170L|EGR2_uc010qin.2_Missense_Mutation_p.P120L|EGR2_uc001jmi.3_Missense_Mutation_p.P170L|EGR2_uc009xph.3_Missense_Mutation_p.P170L	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	170					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGAGGAGGAGGCGGTGGCGG	0.632000														65			41		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514603	118514603	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:118514603C>T	uc001ptr.2	+	14	3316	c.2963C>T	c.(2962-2964)tCc>tTc	p.S988F	PHLDB1_uc001pts.3_Missense_Mutation_p.S988F|PHLDB1_uc001ptt.3_Missense_Mutation_p.S941F|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.S788F|PHLDB1_uc001ptw.2_Missense_Mutation_p.S343F|PHLDB1_uc009zai.2_Missense_Mutation_p.S24F|PHLDB1_uc001ptx.2_Missense_Mutation_p.S24F|PHLDB1_uc010ryi.1_Missense_Mutation_p.S131F|PHLDB1_uc010ryj.1_Missense_Mutation_p.S126F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	988										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		tctggctcttcctcctcctcc	0.657000														26			10		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494184	55494184	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55494184G>A	uc021vbq.1	+	5	1229	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	NLRP2_uc010yfp.2_Missense_Mutation_p.G350E|NLRP2_uc002qij.3_Missense_Mutation_p.G373E|NLRP2_uc010esp.3_Missense_Mutation_p.G351E|NLRP2_uc010esn.3_Missense_Mutation_p.G349E|NLRP2_uc010eso.3_Missense_Mutation_p.G370E	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	373	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGACACTTTGGAGACGAGGAC	0.632000														27			20		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812401	144812401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:144812401G>A	uc003yzk.3	-	1	421	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	FAM83H_uc022bch.1_Nonsense_Mutation_p.Q118*	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	118					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCGGTGCCCTGGAAGCCGAAG	0.642000														32			10		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588256	204588256	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:204588256C>T	uc021phy.1	-	0	865	c.865G>A	c.(865-867)Gag>Aag	p.E289K	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E289K|LRRN2_uc001hbf.1_Missense_Mutation_p.E289K|LRRN2_uc009xbf.1_Missense_Mutation_p.E289K|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	289					cell adhesion	integral to membrane	receptor activity	p.K288T(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGTCCCAGCTCCTTAAGGTGC	0.587000														89			16		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139727935	139727935	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:139727935C>T	uc003yvd.3	-	29	2954	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	COL22A1_uc011ljo.2_Missense_Mutation_p.R136Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	836	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCTCGGTCACCTTT	0.373000										HNSCC(7;0.00092)				44			25		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43042758	43042758	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:43042758C>T	uc009vwk.1	+	6	1033	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CCDC30_uc001chm.2_Missense_Mutation_p.T6M|CCDC30_uc001chn.2_Missense_Mutation_p.T97M|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Missense_Mutation_p.T122M	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	308										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCTTCACTCACGGCAGAGTAC	0.388000														36			6		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113563048	113563048	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:113563048C>T	uc022blv.1	+	14	2524	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.S708F|MUSK_uc022blu.1_Missense_Mutation_p.S698F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	797	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S797S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGATCTTCTCCTATGGCCTG	0.542000														8			23		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606785	55606785	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55606785G>A	uc010rio.2	+	0	558	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TATCCTCCCTGATATCACTCT	0.418000														33			28		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921301	247921301	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247921301C>T	uc010pza.2	-	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCACAGGTTCATTCTGGCGG	0.493000														34			7		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026371	176026371	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:176026371G>A	uc003meo.1	-	1	640	c.465C>T	c.(463-465)ttC>ttT	p.F155F	GPRIN1_uc021yif.1_Silent_p.F155F	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	155						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGGACTTGAAATCCATCT	0.507000														72			37		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763508	20763508	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:20763508G>A	uc001umy.3	-	1	428	c.213C>T	c.(211-213)atC>atT	p.I71I	GJB2_uc021rha.1_Silent_p.I71I	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	71			I -> T (in deafness).		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GGATGTGGGAGATGGGGAAGT	0.592000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			40		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980466	136980466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:136980466G>A	uc003qhc.3	-	8	1778	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	MAP3K5_uc011edj.2_5'Flank|MAP3K5_uc011edk.1_Nonsense_Mutation_p.Q318*|MAP3K5_uc010kgw.1_Nonsense_Mutation_p.Q473*	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	473					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAGTAGCTCTGGAGTTTTTCC	0.428000														58			38		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56520207	56520207	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56520207G>A	uc002qmj.3	+	2	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	NLRP5_uc002qmi.3_Missense_Mutation_p.E166K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	166						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)		ACCAAGCAAGGAAAAAGTGCC	0.473000														17			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167038	140167038	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140167038C>T	uc003lhb.2	+	0	1163	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	PCDHAC2_uc003lha.2_Missense_Mutation_p.S388F|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S388F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	403	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTTGCTCCTTAATGCCC	0.562000														75			46		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690329	17690329	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:17690329A>G	uc002zmk.1	-	0	451	c.239T>C	c.(238-240)tTc>tCc	p.F80S	CECR1_uc010gqu.1_Missense_Mutation_p.F80S|CECR1_uc011agi.1_Missense_Mutation_p.F38S|CECR1_uc011agj.1_Missense_Mutation_p.F38S	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	80	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCTGGGTGGGAATATCAGGGT	0.507000														25			20		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023391	28023391	+	Missense_Mutation	SNP	G	A	A	rs138096382		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:28023391G>A	uc001ity.4	-	4	1057	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MKX_uc001itx.4_Missense_Mutation_p.R278C	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	278					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y277F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTACCTGTGCGATAGACAAAG	0.393000														67			32		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435859	54435859	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:54435859T>A	uc021smr.1	+	2	3049	c.3049T>A	c.(3049-3051)Tct>Act	p.S1017T	UNC13C_uc021sms.1_Missense_Mutation_p.S1017T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1017					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCCAAATTTTCTGCACTCCA	0.373000														23			11		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431127	75431127	+	Missense_Mutation	SNP	G	A	A	rs138590143		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:75431127G>A	uc010rru.2	+	1	182	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	MOGAT2_uc001oww.1_Missense_Mutation_p.R61Q|MOGAT2_uc010rrv.2_5'UTR	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	61					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATCTGGACCGAGACAAGCCA	0.567000														99			87		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213301	9213301	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9213301C>T	uc010xkk.2	-	0	682	c.682G>A	c.(682-684)Ggt>Agt	p.G228S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GGAACACCACCAAATATGCAA	0.443000														63			40		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293372	145293372	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:145293372C>T	uc021oul.1	+	1	1	c.-34_splice	c.e1-1		NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Splice_Site|NBPF10_uc021ouk.1_Splice_Site|NBPF10_uc001emq.1_5'UTR	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.											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)		TCTCCCCAGTCCCTGACTCCA	0.453000														358			67		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934564	113934564	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:113934564T>G	uc001pop.3	+	1	806	c.542T>G	c.(541-543)gTg>gGg	p.V181G	ZBTB16_uc001poo.1_Missense_Mutation_p.V181G|ZBTB16_uc001poq.3_Missense_Mutation_p.V181G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	181					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGGCCCATGGTGGACCAGAGC	0.557000														38			12		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89885749	89885749	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:89885749G>A	uc001tbc.3	-	3	783	c.416C>T	c.(415-417)tCc>tTc	p.S139F	GALNT4_uc001tba.3_Missense_Mutation_p.S97F|GALNT4_uc001tbb.3_Missense_Mutation_p.S9F|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Non-coding_Transcript	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TCGATACAAGGAATACAGGAA	0.418000														35			28		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188261	84188261	+	Silent	SNP	C	T	T	rs143312655	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:84188261C>T	uc002fhl.4	+	3	613	c.432C>T	c.(430-432)atC>atT	p.I144I	DNAAF1_uc010chi.1_Non-coding_Transcript	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	144					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.K143I(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TACAGAAAATCGAAAACCTGG	0.478000														19			26		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667847	49667847	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:49667847A>G	uc001jgu.3	-	4	884	c.587T>C	c.(586-588)gTg>gCg	p.V196A	ARHGAP22_uc001jgs.3_Missense_Mutation_p.V90A|ARHGAP22_uc001jgt.3_Missense_Mutation_p.V180A|ARHGAP22_uc010qgl.2_Missense_Mutation_p.V137A|ARHGAP22_uc010qgm.2_Missense_Mutation_p.V186A|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	180	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATGAAGTCCACACACTGCTC	0.647000														72			49		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91727477	91727477	+	Silent	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:91727477T>C	uc003ulg.3	+	42	10887	c.10662T>C	c.(10660-10662)atT>atC	p.I3554I	AKAP9_uc003ulf.3_Silent_p.I3546I|AKAP9_uc003uli.3_Silent_p.I3177I|AKAP9_uc003ulj.3_Silent_p.I1324I|AKAP9_uc003ull.3_Silent_p.I450I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3558					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAAAATATTGATGAAATTA	0.318000			T	BRAF	papillary thyroid									33			12		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92280059	92280059	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:92280059C>T	uc001xzu.4	-	1	246	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	TC2N_uc001xzt.4_Missense_Mutation_p.E19K|TC2N_uc010auc.3_Missense_Mutation_p.E19K|TC2N_uc001xzv.4_Missense_Mutation_p.E19K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	19						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTGTGTTTTTCTGTTTCACCA	0.323000														16			4		0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56163842	56163842	+	Silent	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56163842C>G	uc002qlr.3	+	5	1308	c.573C>G	c.(571-573)ggC>ggG	p.G191G	CCDC106_uc021vcc.1_Silent_p.G191G|CCDC106_uc021vcd.1_Silent_p.G191G|CCDC106_uc002qls.3_Silent_p.G191G|U2AF2_uc002qlt.3_5'Flank|U2AF2_uc002qlu.3_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.	191						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGATCCTGGGCACCTTCCAGA	0.647000														20			16		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402343	67402343	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:67402343G>A	uc001omp.3	-	2	409	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	107					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						AGTCGGCCAGGGAGTCCATGC	0.657000														27			20		0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99226911	99226911	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:99226911C>T	uc003url.1	+	7	1230	c.903C>T	c.(901-903)ctC>ctT	p.L301L	ZNF498_uc003urm.1_Silent_p.L137L|ZNF498_uc010lge.1_Silent_p.L137L|ZNF498_uc003urn.3_Intron|ZNF498_uc010lgf.1_Silent_p.L229L|ZNF498_uc003uro.1_Silent_p.L85L	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	301					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAGCCTCTCTCCAGGGCCCTG	0.652000														66			26		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89658686	89658686	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:89658686C>T	uc003hse.1	-	20	2791	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Silent_p.R535R|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Silent_p.R521R|FAM13A_uc011cdq.1_Silent_p.R507R|FAM13A_uc003hsf.1_Silent_p.R447R|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	861					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGGGCTTCTCCGCTTGCTGG	0.537000														41			11		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716423	18716423	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:18716423C>T	uc001rdt.3	+	26	3886	c.3770C>T	c.(3769-3771)aCt>aTt	p.T1257I	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T1298I|PIK3C2G_uc010sic.2_Missense_Mutation_p.T1076I	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1257	PX.				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)				GCATCACTGACTCTCCCAGAG	0.398000														14			13		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24421962	24421962	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:24421962C>T	uc001bin.4	-	7	923	c.760G>A	c.(760-762)Gat>Aat	p.D254N	MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.D254N|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	254										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGCCAGCATCCTTCCCCAGG	0.512000														39			44		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176289792	176289792	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:176289792G>A	uc003mey.3	+	1	430	c.238G>A	c.(238-240)Gag>Aag	p.E80K	UNC5A_uc003mex.1_Missense_Mutation_p.E80K|UNC5A_uc010jkg.1_5'UTR	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	80	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCAACGGGGAGTGGGTGCG	0.652000														104			45		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52537369	52537369	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:52537369C>T	uc003dej.3	+	7	778	c.704C>T	c.(703-705)cCc>cTc	p.P235L	STAB1_uc003dei.1_Missense_Mutation_p.P235L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	235	EGF-like 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCCAACCCCTGCTGGCCA	0.662000														13			9		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134671224	134671224	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:134671224G>A	uc021qbc.1	-	38	5545	c.5444C>T	c.(5443-5445)gCc>gTc	p.A1815V		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	480										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCACCCTGGGCCAGGCCATA	0.502000														7			7		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244483	1244483	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:1244483G>A	uc003jby.2	+	9	1614	c.1491G>A	c.(1489-1491)atG>atA	p.M497I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	497					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTTATGGAATGAAACGGTGAG	0.587000														59			33		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35066005	35066005	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:35066005C>T	uc003jjm.3	-	9	1614	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.G251E|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	352					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTCACAGCTCCCCCGGCCTGA	0.498000														33			17		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986781	141986781	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:141986781C>T	uc002tvj.1	-	5	1793	c.821G>A	c.(820-822)tGg>tAg	p.W274*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	274					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGATTGTCCATTCATCTGT	0.323000										TSP Lung(27;0.18)				42			18		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362573	9362573	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9362573C>T	uc002mlb.1	+	0	854	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTGTTACCATCCCCCAGGAAG	0.498000														35			11		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393915	154393915	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:154393915G>A	uc010jih.1	+	0	656	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	166	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)			TATACGGGAGGATCCTAAGGA	0.398000														104			69		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154705591	154705591	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:154705591T>C	uc021pah.1	-	4	1837	c.1523A>G	c.(1522-1524)aAc>aGc	p.N508S	KCNN3_uc001ffo.3_Missense_Mutation_p.N188S|KCNN3_uc001ffp.3_Missense_Mutation_p.N493S	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.	498						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)			ACCCAGAAAGTTACTAGTTAC	0.517000														89			10		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170338053	170338053	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:170338053C>T	uc003mba.3	+	6	817	c.675C>T	c.(673-675)tgC>tgT	p.C225C	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript|RANBP17_uc003maw.3_3'UTR|RANBP17_uc011dew.2_Silent_p.C225C	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	225					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)			TCCTTAACTGCCTTAACTTTG	0.383000			T	TRD@	ALL									8			15		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835693	61835693	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:61835693G>A	uc001jky.3	-	36	5284	c.4946C>T	c.(4945-4947)tCa>tTa	p.S1649L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1649	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1649L(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTAATGTTTGATTTGGGGGA	0.423000														43			27		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66208964	66208964	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:66208964C>T	uc001xin.3	+	10	3291	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	FUT8_uc001xio.3_Missense_Mutation_p.P522S|FUT8_uc010tsp.2_Missense_Mutation_p.P359S|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.P522S|FUT8_uc001xiq.3_Missense_Mutation_p.P393S|FUT8_uc021ruy.1_Missense_Mutation_p.P393S	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	522	SH3.				L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AGATGAAATTCCCATGGAACC	0.448000														97			49		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043915	180043915	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:180043915G>A	uc003mlz.4	-	21	3160	c.3081C>T	c.(3079-3081)ttC>ttT	p.F1027F	FLT4_uc003mma.4_Silent_p.F1027F	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1027	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGAAGCCAGGAACTCCATCC	0.602000														45			34		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179883	124179883	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:124179883G>A	uc010sag.2	-	0	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		AAGGGGGCTTGAAATACATGA	0.502000														14			29		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591165	55591165	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55591165C>T	uc010qhy.1	-	30	4522	c.4127G>A	c.(4126-4128)gGa>gAa	p.G1376E	PCDH15_uc010qhq.2_Missense_Mutation_p.G1376E|PCDH15_uc010qhr.2_Missense_Mutation_p.G1371E|PCDH15_uc021pqv.1_Missense_Mutation_p.G1371E|PCDH15_uc021pqw.1_Missense_Mutation_p.G1383E|PCDH15_uc010qht.2_Missense_Mutation_p.G1378E|PCDH15_uc021pqx.1_Missense_Mutation_p.G1371E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1371E|PCDH15_uc021pqz.1_Missense_Mutation_p.G1349E|PCDH15_uc010qhv.1_Missense_Mutation_p.G1371E|PCDH15_uc010qhw.1_Missense_Mutation_p.G1334E|PCDH15_uc010qhx.1_Missense_Mutation_p.G1300E|PCDH15_uc010qhz.1_Missense_Mutation_p.G1371E|PCDH15_uc010qia.1_Missense_Mutation_p.G1349E|PCDH15_uc001jju.1_Missense_Mutation_p.G1371E|PCDH15_uc010qib.1_Missense_Mutation_p.G1349E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1371					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTGTGTATCCTAGACTTTC	0.483000										HNSCC(58;0.16)				49			20		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121053	104121053	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:104121053C>T	uc001tjw.3	+	46	5046	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1620	FAS1 5.				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	p.F1620F(2)		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						AGGAGCATTTCGTGAAAGATC	0.512000														204			105		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50742344	50742344	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:50742344C>T	uc003tpi.2	-	2	197	c.151G>A	c.(151-153)Gac>Aac	p.D51N	GRB10_uc003tph.3_5'UTR|GRB10_uc003tpj.2_Missense_Mutation_p.D51N|GRB10_uc003tpk.2_Missense_Mutation_p.D51N|GRB10_uc010kzb.2_5'UTR|GRB10_uc003tpl.2_Missense_Mutation_p.D45N|GRB10_uc003tpm.2_5'UTR	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	51					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTTCCAGGTCCACATCATCC	0.493000									Russell-Silver syndrome					30			16		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752347	247752347	+	Nonsense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247752347T>A	uc010pyy.2	+	0	686	c.686T>A	c.(685-687)tTg>tAg	p.L229*		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACGCAGTGTTGAGGATTAAG	0.473000														78			20		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835429	102835429	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:102835429G>A	uc002tbs.3	+	6	867	c.741G>A	c.(739-741)gtG>gtA	p.V247V	IL1RL2_uc002tbt.3_Silent_p.V129V	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	247	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTCTGATTGTGGACTGCAATG	0.338000														18			17		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256024	50256024	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:50256024G>A	uc003cyn.4	+	13	1175	c.1034_splice	c.e13-1	p.N345_splice		NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	346					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GCCTGCCACAGACGGGGTGGA	0.632000														19			13		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62500818	62500818	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:62500818G>A	uc010deh.2	-	1	230	c.187C>T	c.(187-189)Cct>Tct	p.P63S	CEP95_uc002jem.3_5'Flank|CEP95_uc002jen.3_5'Flank|CEP95_uc010wqb.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.P63S|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.P63S|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	63					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCAAATCAGGGTGCTCTTGA	0.398000			T	ETV4	prostate									63			28		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203943	84203943	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:84203943C>T	uc002fhl.4	+	7	1690	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	DNAAF1_uc010vnw.2_Silent_p.P267P	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	503	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CACCACCGCCCCTGGGAGCTG	0.612000														19			19		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962845	96962845	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:96962845C>T	uc010how.1	+	4	1363	c.1320C>T	c.(1318-1320)gcC>gcT	p.A440A	EPHA6_uc003drp.1_Silent_p.A440A	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	345	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D439Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGAAACAGCCCTTATTTTGG	0.398000														14			8		0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499995	120499995	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:120499995C>T	uc003edz.4	+	4	1112	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	333					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAAAGACTTCCTCTGCCATG	0.537000														45			19		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165404205	165404205	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:165404205C>T	uc002ucl.3	-	2	987	c.446G>A	c.(445-447)tGg>tAg	p.W149*	GRB14_uc010zcv.2_Nonsense_Mutation_p.W62*	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	149	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAAAAGGGTCCAGCTGTGGTC	0.443000														31			15		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394679	164394679	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:164394679C>T	uc003iqp.4	-	0	369	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	70						cytoplasm	metal ion binding|transketolase activity	p.N69K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGAACCGGTCGTTGTCCGGG	0.552000														23			5		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794251	21794251	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:21794251G>A	uc001wag.3	+	15	2629	c.2629G>A	c.(2629-2631)Gat>Aat	p.D877N	RPGRIP1_uc001wah.3_Missense_Mutation_p.D519N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.D352N|RPGRIP1_uc010aim.3_Missense_Mutation_p.D260N|RPGRIP1_uc001wal.3_Missense_Mutation_p.D236N|RPGRIP1_uc001wam.3_Missense_Mutation_p.D194N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	877	C2.				response to stimulus|visual perception	cilium		p.D493Y(1)|p.D877Y(1)		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)		TGTTTTTGATGATGAAGACTT	0.483000														25			13		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829283	57829283	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:57829283G>A	uc002yan.3	+	4	4519	c.4519G>A	c.(4519-4521)Gaa>Aaa	p.E1507K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1507						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATAGCCCAGGAAATTCACAG	0.512000														37			13		0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750611	94750611	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:94750611C>T	uc003hta.1	+	0	534	c.534C>T	c.(532-534)gcC>gcT	p.A178A		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	178	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	p.H177H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TGAACCACGCCTTCGACCAGC	0.567000														35			10		0	0	1	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33422073	33422073	+	RNA	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:33422073C>T	uc002xax.3	-	0		c.193G>A								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		agattacaggcgtaagccgcc	0.507000														22			12		0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395955	101395955	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:101395955C>T	uc022cas.1	-	0	349	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	TCEAL6_uc004eiq.3_Missense_Mutation_p.G117R	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R116W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCGTCCGTCCCCCTGTCTGTT	0.582000														15			71		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301833	77301833	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:77301833G>A	uc004ecx.4	+	22	4429	c.4269G>A	c.(4267-4269)cgG>cgA	p.R1423R		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1423					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGCCTGCCCGGAGCCAGATAG	0.433000														24			57		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39603995	39603995	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:39603995C>T	uc003xnj.3	-	18	2245	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ADAM2_uc003xnk.3_Missense_Mutation_p.D705N|ADAM2_uc011lck.2_Missense_Mutation_p.D661N|ADAM2_uc003xnl.3_Missense_Mutation_p.D568N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	724					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATATACTCATCGCTTGAATAG	0.269000														32			16		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887489	23887489	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:23887489C>T	uc001wjx.3	-	29	4205	c.4099G>A	c.(4099-4101)Gag>Aag	p.E1367K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1367					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGGCCACCTCCGAGTTGGCC	0.642000														77			31		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642031	127642031	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:127642031C>T	uc010hsr.3	+	0	130	c.127C>T	c.(127-129)Cct>Tct	p.P43S	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_5'Flank|KBTBD12_uc003ejz.2_Missense_Mutation_p.P43S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	43	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGAGAAATTTCCTTGCCACAG	0.368000														35			19		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70413255	70413255	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:70413255C>T	uc001vip.3	-	5	2061	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	KLHL1_uc010thm.2_Missense_Mutation_p.D362N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	423					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CATTCCAGATCATTCTTAAAT	0.323000														47			12		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119686	47119686	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47119686G>A	uc002iom.3	+	8	1358	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	IGF2BP1_uc010dbj.3_Missense_Mutation_p.E203K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	342	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E342K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCGAGCAGGAAATAATGAA	0.517000														65			29		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584185	7584185	+	Silent	SNP	G	A	A	rs145751089		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7584185G>A	uc003mxp.1	+	23	6969	c.6690G>A	c.(6688-6690)ccG>ccA	p.P2230P	DSP_uc003mxq.1_Silent_p.P1631P|DSP_uc021yle.1_Silent_p.P1787P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2230	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATTGAGACCGTCCACTGTCA	0.458000														29			21		0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217220	98217220	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:98217220G>T	uc011bgx.2	+	0	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATCCAAGGAGGGAAGGGCCA	0.338000														40			15		4.93089e-13	4.98036e-13	1	1	0
KDR	3791	broad.mit.edu	37	4	55961006	55961006	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:55961006C>T	uc003has.3	-	20	3236	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	KDR_uc003hat.1_Silent_p.V978V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	978	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTCTCCTCCACAAATCCAG	0.532000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				87			22		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203817384	203817384	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:203817384G>A	uc002uzo.2	+	4	689	c.409G>A	c.(409-411)Gat>Aat	p.D137N	ALS2CR8_uc002uzn.3_Missense_Mutation_p.D35N|ALS2CR8_uc002uzm.3_Missense_Mutation_p.D137N|ALS2CR8_uc010zhy.1_Missense_Mutation_p.D137N|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.D61N|ALS2CR8_uc010zib.1_Missense_Mutation_p.D61N|ALS2CR8_uc010zic.1_Missense_Mutation_p.D49N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.D137N	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	137										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GCAACTTGTGGATGTGAATAG	0.418000														41			30		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575385	33575385	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:33575385G>A	uc002xbi.2	+	16	1616	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	391	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTACCTGATGGGGGTCAGCA	0.637000														70			22		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155546	22155547	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22155546_22155547GG>AA	uc021urr.1	-	3	2438_2439	c.2289_2290CC>TT	c.(2287-2292)accctt>acTTtt	p.L764F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGACC	0.356000														21			12		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921105	24921105	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:24921105G>A	uc001ywo.3	+	0	565	c.91G>A	c.(91-93)Gac>Aac	p.D31N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	31					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGTCCCGGGACGCCTCCCC	0.697000														12			7		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876185	4876185	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:4876185G>A	uc003snj.1	-	2	760	c.587C>T	c.(586-588)cCg>cTg	p.P196L	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwc.1_5'UTR|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	196					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCCGGGGTCGGGGTTCCCTT	0.657000														28			12		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:110476889G>A	uc003yne.3	+	48	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2610					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P2609T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443000										HNSCC(38;0.096)				74			58		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906044	12906044	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:12906044C>T	uc004cvc.3	+	2	2556	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	806					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTGACTATTCCTTACCTGGCC	0.483000														10			35		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42533069	42533069	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:42533069C>T	uc010dni.3	+	3	4060	c.3764C>T	c.(3763-3765)cCt>cTt	p.P1255L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1255						nucleus	DNA binding	p.T1254K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCAGTGAGCCTGTGGACTCA	0.517000									Schinzel-Giedion syndrome					16			20		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040307	247040307	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247040307C>T	uc001ibv.2	-	22	3006	c.2909G>A	c.(2908-2910)cGt>cAt	p.R970H	AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	961	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATAATTGGCACGCTGCAAATG	0.368000														60			9		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369596	56369596	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56369596C>T	uc002qmd.4	+	2	1259	c.837C>T	c.(835-837)atC>atT	p.I279I	NLRP4_uc002qmf.3_Silent_p.I204I|NLRP4_uc010etf.3_Silent_p.I110I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	279	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCATCGCTATCAAACCCGTGT	0.547000														44			31		0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325312	132325312	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:132325312C>T	uc001ujc.1	+	3	716	c.617C>T	c.(616-618)aCc>aTc	p.T206I	MMP17_uc001ujd.1_Missense_Mutation_p.T122I	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	206					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCGGCGGCACCGTGGCCCAC	0.687000														27			17		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238598	48238598	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:48238598C>T	uc010rhs.2	+	0	237	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCCTAAATTCATCATAGACT	0.448000														96			30		0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113866259	113866259	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:113866259C>T	uc001tvi.3	+	3	416	c.209C>T	c.(208-210)tCc>tTc	p.S70F	SDSL_uc009zwh.3_Missense_Mutation_p.S70F	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	70					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CTGGTGTGCTCCTCAGGTGAC	0.542000														22			3		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	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									29			24		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140061	3140061	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3140061C>T	uc002ctv.1	-	4	1297	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	ZSCAN10_uc002cty.1_Silent_p.Q64Q|ZSCAN10_uc002ctw.1_Silent_p.Q321Q|ZSCAN10_uc002ctx.1_Silent_p.Q331Q	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	403					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGCGGCTTCTGGTCCTGGG	0.706000														9			6		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962431	73962431	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73962431G>A	uc004eby.3	-	2	2578	c.1961C>T	c.(1960-1962)tCa>tTa	p.S654L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	654					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S654*(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTACATAATGAAATCTGTTT	0.423000														6			11		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574928	22574928	+	Missense_Mutation	SNP	C	T	T	rs74170714		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22574928C>T	uc002nqt.2	-	3	1231	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	370					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)				AGAATGAATTCTCTTATGTGT	0.383000														16			7		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769053	247769053	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247769053C>T	uc010pyz.2	+	0	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H56Y(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCCCTCTTCATACCCCAAT	0.433000														164			140		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558289	159558289	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:159558289G>A	uc001ftv.3	+	1	559	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	155	Pentaxin.		E -> G.		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCTGGGGCAGGAACAGGATTC	0.488000														29			31		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192473	51192473	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:51192473G>A	uc002psx.1	-	14	2047	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	SHANK1_uc002psw.1_Silent_p.F60F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	676	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGGAGCACGAACCCAAACC	0.612000														92			52		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732904	112732904	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:112732904G>A	uc002thk.1	+	6	1121	c.999G>A	c.(997-999)atG>atA	p.M333I	MERTK_uc002thl.1_Missense_Mutation_p.M157I	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	333	Fibronectin type-III 1.				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						GCTCAGTCATGATTTTTAACA	0.473000														97			43		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86452364	86452364	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:86452364C>T	uc004ana.3	-	17	3902	c.3758G>A	c.(3757-3759)gGa>gAa	p.G1253E	KIF27_uc010mpw.3_Missense_Mutation_p.G1187E|KIF27_uc010mpx.3_Missense_Mutation_p.G1156E	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1253					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATGCCTCCTCCTTCTGGCTT	0.373000														24			39		0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155291925	155291925	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:155291925G>A	uc001fkj.2	+	1	590	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	RUSC1-AS1_uc001fkh.1_5'Flank|RUSC1-AS1_uc001fki.3_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.V121I|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	121						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCTGTCTCAGTCTACTTGCG	0.637000														78			10		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2334958	2334958	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:2334958G>A	uc002cpy.1	-	23	4237	c.3525C>T	c.(3523-3525)gaC>gaT	p.D1175D	ABCA3_uc010bsk.1_Silent_p.D1117D	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1175					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGTGGCCGTCCCGCGTGA	0.632000														15			29		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290787	5290787	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5290787G>A	uc001mal.1	-	1	478	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.S71F	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	71					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.T70T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCAAAGGAAGTCAGCAC	0.512000														40			35		0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:202150030C>T	uc002uxr.1	+	8	1503	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_uc002uxq.1_Nonsense_Mutation_p.R417*|CASP8_uc002uxp.1_Nonsense_Mutation_p.R449*|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Nonsense_Mutation_p.R491*|CASP8_uc002uxw.1_Nonsense_Mutation_p.R417*|CASP8_uc010ftf.2_Nonsense_Mutation_p.R348*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507000										HNSCC(4;0.00038)				47			13		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122648694	122648694	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:122648694C>T	uc021pzt.1	+	16	2472	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	WDR11_uc010qte.2_Silent_p.S344S|WDR11_uc001lfd.1_Silent_p.S260S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	742						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCAGAGTATCCAGGTATAAGC	0.363000														24			34		0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18924092	18924092	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:18924092T>A	uc002yki.3	+	2	460	c.236T>A	c.(235-237)aTt>aAt	p.I79N	CXADR_uc002ykh.2_Missense_Mutation_p.I79N|CXADR_uc010gld.2_Missense_Mutation_p.I79N|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.I79N|CXADR_uc002ykj.2_Missense_Mutation_p.I79N	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	79	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GGAGACAAAATTTATGATGAC	0.338000														12			8		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411561	2411562	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:2411561_2411562GG>AA	uc002wfy.1	+	11	1916_1917	c.1855_1856GG>AA	c.(1855-1857)gga>AAa	p.G619K	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	619					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)	AGCCATGGTGGGAGTGGCAGTT	0.594000														103			35		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328525	80328525	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:80328525T>G	uc003hlu.3	-	0	848	c.830A>C	c.(829-831)aAc>aCc	p.N277T		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	277					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCATAGGTGTTTTTGGCTTG	0.463000														44			43		0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071114	150071114	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:150071114C>T	uc002twv.1	+	6	915	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	LYPD6B_uc002tww.1_Missense_Mutation_p.H134Y|LYPD6B_uc002twx.1_Missense_Mutation_p.H134Y	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.	148						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCCACCAATCACACTAATGC	0.468000														66			20		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510673	5510673	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5510673C>T	uc010qzg.2	+	0	759	c.737C>T	c.(736-738)tCc>tTc	p.S246F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S246S(1)|p.S246A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGTGGCTCCCACATTGGC	0.493000														53			56		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086702	144086702	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:144086702C>T	uc010khi.3	+	5	1198	c.999C>T	c.(997-999)tcC>tcT	p.S333S	PHACTR2_uc003qjq.4_Silent_p.S322S|PHACTR2_uc010khh.3_Silent_p.S242S|PHACTR2_uc003qjr.4_Silent_p.S253S	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	322							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AATTCAAGTCCATGGTCCCTC	0.572000														31			20		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314596	46314596	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:46314596C>T	uc011bzc.1	-	3	640	c.228G>A	c.(226-228)ggG>ggA	p.G76G	GABRA2_uc003gxc.3_Silent_p.G131G|GABRA2_uc010igc.2_Silent_p.G131G|GABRA2_uc003gxe.3_Silent_p.G131G			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	131					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATTTTTTCCCATTGTGAA	0.348000														39			26		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184192255	184192255	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:184192255C>A	uc010irx.3	+	15	2605	c.2423C>A	c.(2422-2424)gCa>gAa	p.A808E	WWC2_uc003ivk.4_Missense_Mutation_p.A603E|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.A490E|WWC2_uc003ivn.4_Missense_Mutation_p.A323E|WWC2_uc010irz.3_Missense_Mutation_p.A125E	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	808										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ATCAGCCTGGCAGATTTACCA	0.333000														19			6		0.00116845	0.00117038	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247920862	247920862	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247920862G>A	uc010pza.2	-	0	847	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A282P(1)|p.P283L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCAGCATCGGAGCCACCATT	0.473000														86			13		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547941	17547941	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:17547941C>G	uc001mnf.3	-	7	736	c.627G>C	c.(625-627)gaG>gaC	p.E209D	USH1C_uc001mne.3_Missense_Mutation_p.E209D|USH1C_uc009yhb.3_Missense_Mutation_p.E209D|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.E173D	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	209					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGACCTTCTTCTCCTTGTTTT	0.617000														33			5		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854738	88854738	+	Missense_Mutation	SNP	G	A	A	rs145855770		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:88854738G>A	uc010kbz.3	-	1	386	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	CNR1_uc011dzr.2_Missense_Mutation_p.L86F|CNR1_uc011dzs.2_Missense_Mutation_p.L86F|CNR1_uc003pmq.4_Missense_Mutation_p.L86F|CNR1_uc011dzt.2_Missense_Mutation_p.L86F|CNR1_uc010kca.3_Missense_Mutation_p.L53F|CNR1_uc021zco.1_Missense_Mutation_p.L86F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	86					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.S85Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AAGGACGAGAGAGACTTGTTG	0.507000														31			15		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97981389	97981389	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:97981389G>A	uc001drv.3	-	12	1770	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	545					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.P545H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGACCAAAAGGATTTATAAAC	0.458000														37			9		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114282634	114282634	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:114282634C>T	uc003vhb.3	+	6	1319	c.945C>T	c.(943-945)tcC>tcT	p.S315S	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.S340S|FOXP2_uc003vha.3_Silent_p.S223S|FOXP2_uc011kmv.2_Silent_p.S314S|FOXP2_uc011kmu.2_Silent_p.S332S|FOXP2_uc010ljz.2_Silent_p.S223S|FOXP2_uc003vgx.2_Silent_p.S315S|FOXP2_uc003vhc.3_Silent_p.S340S|FOXP2_uc003vhd.3_Silent_p.S315S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	315					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.S340S(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCATCATTCCATAGTGAATG	0.388000														79			40		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39058424	39058424	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:39058424G>A	uc002oit.3	+	92	13656	c.13526G>A	c.(13525-13527)gGg>gAg	p.G4509E	RYR1_uc002oiu.3_Missense_Mutation_p.G4504E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4509	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G4509G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCGAGAATGGGGAGAAGGAA	0.587000														49			22		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715037	150715037	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:150715037C>T	uc003lty.3	-	5	727	c.597G>A	c.(595-597)atG>atA	p.M199I	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.M1I|SLC36A2_uc010jhv.2_Missense_Mutation_p.M199I	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	199					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCGCGAGTCCATGGTGGGGG	0.532000														84			34		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201602	248201602	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248201602C>T	uc001idw.3	+	0	129	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACTGATTTCATCTTATTGG	0.358000														43			78		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477598	31477598	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:31477598C>T	uc010vfn.2	+	7	2605	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	ARMC5_uc010vfo.2_Silent_p.S764S|ARMC5_uc002ecc.3_Silent_p.S732S|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Silent_p.S540S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	732							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACTCACCTTCCCCTTGCCTCT	0.647000														12			13		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33462244	33462244	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:33462244C>T	uc003jhy.3	+	15	2066	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	TARS_uc010iup.1_Nonsense_Mutation_p.R532*|TARS_uc011coc.2_Nonsense_Mutation_p.R612*|TARS_uc003jhz.3_Nonsense_Mutation_p.R487*|TARS_uc011cod.2_Nonsense_Mutation_p.R470*	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	591					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GATTGTTCATCGAGCCATCTT	0.328000														77			41		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241609	155241609	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:155241609C>T	uc003inw.2	-	13	3577	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1193	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCTTCCTTCGTCTGGATCG	0.453000														94			21		0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75277832	75277832	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:75277832C>T	uc001owr.3	+	1	736	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SERPINH1_uc009yuf.3_Silent_p.F146F|SERPINH1_uc009yug.3_Silent_p.F146F|SERPINH1_uc001ows.3_Silent_p.F146F|SERPINH1_uc001owt.3_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	146					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CTGATGACTTCGTGCGCAGCA	0.622000														30			12		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965150	9965151	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9965150_9965151CC>TG	uc002mmp.3	-	5	1104_1105	c.1076_1077GG>CA	c.(1075-1077)cgg>cCA	p.R359P		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	359	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGTCCCAGGACCGCATGACCTC	0.653000														62			35		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220684	108220684	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:108220684C>T	uc003dxa.1	-	3	331	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	92	Myosin head-like.					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						TGGATTTTGTCCTCCTTTATG	0.413000														80			42		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184070869	184070869	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:184070869G>A	uc003foi.3	-	17	2219	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	CLCN2_uc003foh.3_Missense_Mutation_p.L223F|CLCN2_uc010hya.2_Missense_Mutation_p.L682F|CLCN2_uc011brl.2_Missense_Mutation_p.L699F|CLCN2_uc011brm.2_Missense_Mutation_p.L655F	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	699						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCCCTCTTGAGTGCAGGCTTT	0.617000														119			69		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627718	145627718	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:145627718C>T	uc003ijs.2	+	4	1547	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	289						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCTCGCATTCCATCCCAATT	0.413000														7			9		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55782888G>A	uc010qhy.1	-	19	2700	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	PCDH15_uc010qhq.2_Missense_Mutation_p.R769C|PCDH15_uc010qhr.2_Missense_Mutation_p.R764C|PCDH15_uc021pqv.1_Missense_Mutation_p.R764C|PCDH15_uc021pqw.1_Missense_Mutation_p.R776C|PCDH15_uc010qht.2_Missense_Mutation_p.R771C|PCDH15_uc021pqx.1_Missense_Mutation_p.R764C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R764C|PCDH15_uc021pqz.1_Missense_Mutation_p.R742C|PCDH15_uc010qhv.1_Missense_Mutation_p.R764C|PCDH15_uc010qhw.1_Missense_Mutation_p.R727C|PCDH15_uc010qhx.1_Missense_Mutation_p.R693C|PCDH15_uc010qhz.1_Missense_Mutation_p.R764C|PCDH15_uc010qia.1_Missense_Mutation_p.R742C|PCDH15_uc001jju.1_Missense_Mutation_p.R764C|PCDH15_uc010qib.1_Missense_Mutation_p.R742C|PCDH15_uc001jjw.3_Missense_Mutation_p.R764C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)				26			23		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849078	73849078	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:73849078G>A	uc003xzb.3	+	2	2076	c.1488G>A	c.(1486-1488)agG>agA	p.R496R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	496					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTGGGCCAGGAAGGCTCTGT	0.532000														73			49		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968060	106968060	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:106968060G>A	uc003prh.3	+	1	2665	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	585							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCACAGTAATGAACCTGAAGT	0.532000														51			26		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004401	94004402	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:94004401_94004402GG>TA	uc001ybv.1	+	8	741_742	c.658_659GG>TA	c.(658-660)gga>TAa	p.G220*	UNC79_uc001ybs.1_Nonsense_Mutation_p.G220*|UNC79_uc001ybu.1_Nonsense_Mutation_p.G158*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	397						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						TGGTCGTCACGGAAACAGGCCT	0.510000														44			16		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7808049	7808049	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:7808049C>T	uc002mht.2	-	6	1158	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	CD209_uc010xju.1_Nonsense_Mutation_p.W203*|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Nonsense_Mutation_p.W340*|CD209_uc002mhs.2_Nonsense_Mutation_p.W294*|CD209_uc002mhu.2_Nonsense_Mutation_p.W272*|CD209_uc010dvq.2_Nonsense_Mutation_p.W358*|CD209_uc002mhq.2_Nonsense_Mutation_p.W364*|CD209_uc002mhv.2_Nonsense_Mutation_p.W340*|CD209_uc002mhx.2_Nonsense_Mutation_p.W320*|CD209_uc002mhw.2_Nonsense_Mutation_p.W228*|CD209_uc010dvr.2_Nonsense_Mutation_p.W128*	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	364	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTCGTCGTTCCAGCCATTGCC	0.517000														194			104		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100524	110100524	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:110100524G>A	uc003ymz.4	+	0	872	c.783G>A	c.(781-783)agG>agA	p.R261R		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	261						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.R261K(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)			TATCTTCAAGGAAGCAGGTAA	0.383000														24			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678765	100678765	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:100678765C>T	uc003uxp.1	+	2	4121	c.4068C>T	c.(4066-4068)atC>atT	p.I1356I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1356	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATCAGCATCCTTTCAACAA	0.458000														226			148		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377368	44377368	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:44377368C>T	uc002oxs.4	-	1	989	c.989G>A	c.(988-990)gGa>gAa	p.G330E		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAAAGCCTTTCCACATTCCAT	0.383000														37			26		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767535	181767535	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:181767535C>T	uc009wxt.3	+	47	6702	c.6507C>T	c.(6505-6507)ctC>ctT	p.L2169L	CACNA1E_uc001gow.3_Silent_p.L2126L|CACNA1E_uc009wxs.3_Silent_p.L2107L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2169					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						CCCGGCCCCTCCTTTCCTACA	0.632000														87			62		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945143	151945143	+	Silent	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:151945143A>G	uc003wla.3	-	13	2595	c.2376T>C	c.(2374-2376)ccT>ccC	p.P792P		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	792					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)		TGTCATGCGAAGGCAAGTCTG	0.433000			N		medulloblastoma									541			21		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454793	100454793	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:100454793T>G	uc003yiv.3	+	22	3486	c.3375T>G	c.(3373-3375)agT>agG	p.S1125R	VPS13B_uc003yiw.3_Missense_Mutation_p.S1125R|VPS13B_uc003yiu.1_Missense_Mutation_p.S1125R|VPS13B_uc003yix.1_Missense_Mutation_p.S595R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1125					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATTATTAGTGCTGGGCACA	0.418000														24			21		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258679	86258679	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:86258679G>A	uc002sqs.3	-	29	4731	c.4352C>T	c.(4351-4353)cCc>cTc	p.P1451L	POLR1A_uc010ytb.2_Missense_Mutation_p.P817L	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1451					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCCCTGTGGGGATTTCGTtc	0.587000														52			23		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841842	5841842	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5841842G>A	uc010qzp.2	+	0	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAACCTCAAGGAGATTGACTT	0.517000														80			26		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247468	56247468	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:56247468G>A	uc010wnp.2	+	0	452	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCTGGGTGGGAGGCTTTGTC	0.567000														86			54		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354500	220354500	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:220354500C>T	uc010fwg.3	+	35	8760	c.8760C>T	c.(8758-8760)ccC>ccT	p.P2920P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2920	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTGAGCCCCCTCCTGAGC	0.627000														16			71		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89093343	89093343	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:89093343C>T	uc021ryf.1	-	33	4828	c.4579G>A	c.(4579-4581)Gca>Aca	p.A1527T	EML5_uc001xxf.3_Missense_Mutation_p.A314T|EML5_uc021ryg.1_Missense_Mutation_p.A1527T|EML5_uc001xxh.1_Missense_Mutation_p.A658T	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1519						cytoplasm|microtubule		p.A1527E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGAATTCTGCCACAAAAATA	0.418000														110			34		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814394	106814394	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:106814394C>T	uc003ymd.3	+	7	2107	c.2084C>T	c.(2083-2085)aCc>aTc	p.T695I	ZFPM2_uc011lhs.2_Missense_Mutation_p.T426I	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	695					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCAACATTACCTTCAGCCGG	0.468000														23			15		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579664	7579664	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7579664G>A	uc003mxp.1	+	22	3520	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	DSP_uc003mxq.1_Missense_Mutation_p.E1081K|DSP_uc021yle.1_Missense_Mutation_p.E1081K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1081	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGCCTGGAGGAGCTGAAGAG	0.473000														62			38		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563764	176563764	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:176563764C>T	uc001gkz.3	+	2	2188	c.1024C>T	c.(1024-1026)Ctc>Ttc	p.L342F	PAPPA2_uc001gky.1_Missense_Mutation_p.L342F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	342					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S341F(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						CTTCTTCTCCCTCTGCACCGA	0.572000														26			29		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654961	31654961	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:31654961G>A	uc002ynv.3	-	0	316	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	97						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCTGATGGGGAGTTGCAGGG	0.562000														35			27		0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79815661	79815661	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:79815661C>T	uc003kgv.2	+	3	610	c.467C>T	c.(466-468)tCc>tTc	p.S156F	FAM151B_uc010jal.2_Non-coding_Transcript	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA.	156										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ACCGTGATATCCTTCTTTCCA	0.393000														67			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864686	13864686	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:13864686G>A	uc003jfd.2	-	27	4458	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1472	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)					AATCATCAATGATCTTCTTCA	0.512000									Kartagener syndrome					40			19		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583667	47583667	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47583667C>T	uc002ioz.4	+	2	340	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	72					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TCAGGCGTGACGTTCTCCGAC	0.672000														39			9		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416090	5416090	+	Silent	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:5416090G>C	uc002kmt.1	-	12	1880	c.1794C>G	c.(1792-1794)tcC>tcG	p.S598S	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	598	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATCTAGGAGGGAGGGGAATG	0.547000														27			25		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528615	9528615	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:9528615C>T	uc002qzh.2	+	21	2663	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	ASAP2_uc002qzi.2_Nonsense_Mutation_p.Q775*	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	775	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCTCCCGCCCAGCCTGCAGC	0.592000														35			8		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149324134	149324134	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:149324134C>T	uc003lrg.4	-	0	223	c.103G>A	c.(103-105)Gac>Aac	p.D35N	PDE6A_uc021yfs.1_Missense_Mutation_p.D35N	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	35					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAGGAGGTCGGAGATGAGC	0.567000														34			20		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480236	140480236	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140480236G>A	uc003lio.3	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	1					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGTGCAATGGAGGCGGGAG	0.527000														32			15		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52553311	52553311	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:52553311T>A	uc010bff.3	-	9	1223	c.1061A>T	c.(1060-1062)cAc>cTc	p.H354L	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.T254S	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	354	Myosin head-like.					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)		CACCTTCAGGTGACTGTCATC	0.567000														17			8		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816345	156816345	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:156816345C>T	uc010pht.2	-	7	2075	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	592	Fibronectin type-III 1.				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)					CGATGGGACTCTGGGCTCCTT	0.597000														36			5		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726730	25726730	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:25726730C>T	uc003nfc.3	-	0	61	c.26G>A	c.(25-27)gGa>gAa	p.G9E	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	9					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCGTGCTTTTCCTCCCTGCTT	0.522000														61			41		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90450890	90450890	+	Silent	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:90450890T>C	uc001xxy.3	+	8	1214	c.915T>C	c.(913-915)atT>atC	p.I305I	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.I305I|TDP1_uc010atn.3_Silent_p.I305I|TDP1_uc001xya.3_Silent_p.I66I|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	305					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.R304Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACCCACGAATTGCTGATGGAA	0.403000								Repair of DNA-protein crosslinks						100			54		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106046203	106046203	+	Silent	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:106046203G>C	uc004emo.3	+	0	285	c.120G>C	c.(118-120)ggG>ggC	p.G40G	TBC1D8B_uc004emm.3_Silent_p.G40G|TBC1D8B_uc004emn.3_Silent_p.G40G	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	40						intracellular	Rab GTPase activator activity|calcium ion binding	p.G40G(3)		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						AAGGCGGAGGGGGGCTCACAG	0.567000														9			19		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937619	21937619	+	RNA	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:21937619C>T	uc010tzj.1	-	0		c.3121G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCATCATCGTCCTCCTCCTCT	0.502000														63			5		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68024790	68024790	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:68024790G>A	uc010cey.3	-	5	1007	c.843C>T	c.(841-843)tcC>tcT	p.S281S	DPEP2_uc002eve.3_Silent_p.S281S|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	281					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CAGCCGAGTGGGAGAAGATCA	0.567000														84			58		0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452373	64452373	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:64452373G>A	uc011kdr.2	-	1	1626	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Silent_p.F344F	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	344						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gagcaatacagaattttccaa	0.433000														21			14		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320946	52320946	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:52320946G>A	uc003xqu.4	-	16	3339	c.3238C>T	c.(3238-3240)Ccg>Tcg	p.P1080S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1080					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)				TTATGGAACGGAAGGTGGCCT	0.498000														24			22		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403767	47403767	+	Missense_Mutation	SNP	C	T	T	rs145173494	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:47403767C>T	uc001cqp.4	-	1	289	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CYP4A11_uc001cqq.2_Missense_Mutation_p.E80K|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	80					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGAATGTCTCCACCCATTTC	0.488000														94			16		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203040861	203040861	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:203040861C>T	uc009xaj.3	+	32	3741	c.3741C>T	c.(3739-3741)gcC>gcT	p.A1247A	PPFIA4_uc010pqf.2_Silent_p.A829A|PPFIA4_uc001gyz.3_Silent_p.A616A|PPFIA4_uc001gza.3_Silent_p.A607A|PPFIA4_uc001gzb.1_Silent_p.A302A|PPFIA4_uc001gzc.1_Silent_p.A158A			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	616					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						ACCTGTTGGCCTTGGGCACAG	0.498000														13			12		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064649	78064649	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:78064649C>T	uc002ffh.4	+	2	586	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CLEC3A_uc021tlr.1_Silent_p.L117L	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	169	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAACTGTGTCCTGTTCTCCCA	0.527000														57			6		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679700	88679700	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:88679700G>A	uc002bme.2	-	7	1069	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	NTRK3_uc002bmh.2_Nonsense_Mutation_p.Q255*|NTRK3_uc002bmf.2_Nonsense_Mutation_p.Q255*|NTRK3_uc021sua.1_Nonsense_Mutation_p.Q255*|NTRK3_uc010upl.1_Nonsense_Mutation_p.Q157*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.Q255*|NTRK3_uc002bmg.3_Nonsense_Mutation_p.Q255*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	255	Ig-like C2-type 1.				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)			ATGCCTACCTGGTGAGTGTTG	0.512000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				16			9		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658726	167658726	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:167658726C>T	uc011cjq.1	-	8	1117	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	SPOCK3_uc021xuf.1_Missense_Mutation_p.G345S|SPOCK3_uc011cjr.1_Missense_Mutation_p.G225S|SPOCK3_uc003iri.1_Missense_Mutation_p.G345S|SPOCK3_uc011cjs.1_Missense_Mutation_p.G294S|SPOCK3_uc003irj.1_Missense_Mutation_p.G342S|SPOCK3_uc011cjt.1_Missense_Mutation_p.G253S|SPOCK3_uc011cjp.2_Missense_Mutation_p.G302S|SPOCK3_uc011cju.1_Missense_Mutation_p.G249S|SPOCK3_uc011cjv.1_Missense_Mutation_p.G247S	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	345	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTGTAGTAACCATCTTCATCA	0.428000														47			33		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935671	47935671	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:47935671C>T	uc010ele.3	-	7	2158	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R	SLC8A2_uc002pgx.3_Silent_p.R714R|SLC8A2_uc010xyq.2_Silent_p.R470R|SLC8A2_uc010xyr.2_Silent_p.R177R			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	714					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCCGCTCCTCCCGGGACCCGT	0.627000														72			42		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785307	134785307	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:134785307G>A	uc003law.4	-	1	524	c.323C>T	c.(322-324)tCa>tTa	p.S108L	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.S108L	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	108										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGATGCCTGAGAAGGAGAC	0.577000														127			58		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169576207	169576207	+	Missense_Mutation	SNP	G	A	A	rs6130	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:169576207G>A	uc001ggi.4	-	8	1564	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F	SELP_uc001ggh.3_Missense_Mutation_p.S335F|SELP_uc009wvr.3_Missense_Mutation_p.S500F	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	500	Sushi 5.		S -> F (in dbSNP:rs6130).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGGAGGAACAGAATTCCAGTT	0.443000														41			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175878	140175878	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140175878C>T	uc003lhd.2	+	0	1435	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.I443I|PCDHAC2_uc011czy.2_Silent_p.I443I	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	457	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652000														69			31		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203834748	203834748	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:203834748C>T	uc002uzo.2	+	9	1340	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Silent_p.L278L|ALS2CR8_uc010zib.1_Silent_p.L278L|ALS2CR8_uc010zic.1_Silent_p.L266L|ALS2CR8_uc002uzp.2_Silent_p.L354L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	354										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						TTTTAACATGCTAAAGAAGAA	0.313000														24			5		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41120250	41120250	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:41120250G>C	uc002ooh.1	+	21	2911	c.2911G>C	c.(2911-2913)Gcc>Ccc	p.A971P	LTBP4_uc002oog.1_Missense_Mutation_p.A934P|LTBP4_uc002ooi.1_Missense_Mutation_p.A904P|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.A191P|LTBP4_uc002ool.1_Missense_Mutation_p.A69P|LTBP4_uc002oom.1_Non-coding_Transcript|LTBP4_uc010xvp.1_5'UTR	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	971	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGAGGCCCAGCCCTGTGCGG	0.662000														34			13		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629181	80629181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:80629181G>A	uc003pja.4	-	4	944	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	209					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGATATTTCTGAATCCATGGG	0.348000														42			23		0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80873678	80873678	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:80873678C>T	uc002bfr.3	+	16	2017	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	ARNT2_uc010unm.2_Silent_p.S606S|ARNT2_uc002bfs.3_Silent_p.S606S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	617					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCCCCCTCTCCAGCCCAGCTA	0.577000														16			17		0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940194	64940194	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:64940194G>A	uc010rnz.2	+	5	556	c.556G>A	c.(556-558)Gac>Aac	p.D186N		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	186	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						TTGGACTCGGGACCGGCGCCC	0.672000														36			27		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967724	2967724	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:2967724G>A	uc022aqr.1	-	42	6954	c.6564C>T	c.(6562-6564)ttC>ttT	p.F2188F	CSMD1_uc011kwj.2_Silent_p.F1581F|CSMD1_uc010lrg.3_Silent_p.F257F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2189	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAACAGGGTGAAGTTGATGT	0.458000														12			12		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50120753	50120753	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:50120753G>A	uc003jon.4	+	18	2054	c.1872G>A	c.(1870-1872)ctG>ctA	p.L624L	PARP8_uc011cpz.2_Silent_p.L516L|PARP8_uc003joo.3_Silent_p.L624L|PARP8_uc003jop.3_Silent_p.L582L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	624	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CACCATATCTGGAAATCAAGA	0.338000														43			32		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415352	65415352	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:65415352C>T	uc003dmn.3	-	11	2536	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	MAGI1_uc003dmm.3_Silent_p.Q670Q|MAGI1_uc003dmo.3_Silent_p.Q670Q|MAGI1_uc003dmp.3_Silent_p.Q670Q|MAGI1_uc010hny.2_Silent_p.Q555Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	670	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTCAACAATCTGTTTCACTC	0.493000														42			28		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113660064	113660064	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:113660064G>A	uc001pof.1	+	0		c.112G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		AGGGGCTGAGGGGACCAAGCT	0.592000														42			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:55540733G>A	uc003xsd.1	+	3	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1431					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1431K(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTCAGGATGAAAATGCATA	0.373000														33			16		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807129	233807129	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:233807129G>A	uc010pxo.1	+	2	1032	c.864G>A	c.(862-864)gaG>gaA	p.E288E		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	288						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)	ACAAGGACGAGGATCAGGTGC	0.453000														17			32		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871482	8871482	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:8871482G>A	uc002qzc.2	-	29	4866	c.4684C>T	c.(4684-4686)Ccg>Tcg	p.P1562S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1463S|KIDINS220_uc002qzb.2_Missense_Mutation_p.P416S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1562					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTCTGATCGGCTCAGCACTG	0.448000														88			29		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444320	150444320	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:150444320C>T	uc009wlr.3	+	10	3097	c.2896C>T	c.(2896-2898)Cct>Tct	p.P966S	RPRD2_uc010pcc.1_Intron|RPRD2_uc001eup.4_Missense_Mutation_p.P940S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	966							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCAGACTCTCCTCACCCAGT	0.542000														427			60		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46265035	46265035	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:46265035C>T	uc002xtk.3	+	11	2166	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	NCOA3_uc002xtl.3_Silent_p.S635S|NCOA3_uc002xtn.3_Silent_p.S635S|NCOA3_uc010ght.2_Silent_p.S645S|NCOA3_uc002xtm.3_Silent_p.S635S|NCOA3_uc010zyc.2_Silent_p.S430S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	635	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGGTCATTCCTCCTTGACCA	0.473000														48			17		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924028	55924028	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55924028C>T	uc003pcs.3	-	28	2853	c.2621G>A	c.(2620-2622)aGa>aAa	p.R874K	COL21A1_uc010jzz.3_Missense_Mutation_p.R259K|COL21A1_uc011dxg.2_Missense_Mutation_p.R247K|COL21A1_uc011dxh.2_Missense_Mutation_p.R225K|COL21A1_uc003pcr.3_Missense_Mutation_p.R231K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	874	Collagen-like 6.				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)			TTCCCCATTTCTTCCTGGTAG	0.443000														16			10		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201333435	201333435	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:201333435G>A	uc001gwf.3	-	10	549	c.480C>T	c.(478-480)aaC>aaT	p.N160N	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Silent_p.N150N|TNNT2_uc001gwg.3_Silent_p.N150N|TNNT2_uc001gwh.3_Silent_p.N141N|TNNT2_uc001gwi.3_Silent_p.N120N|TNNT2_uc009wzr.3_Silent_p.N91N|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.N125N|TNNT2_uc001gwk.1_Silent_p.N91N|TNNT2_uc009wzt.1_Silent_p.N150N	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	160					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	p.R159L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CAGCCAGGCGGTTCTGCCGCT	0.647000														28			7		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:44591126C>T	uc002oyg.1	+	4	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418000														33			19		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56089394	56089394	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:56089394C>T	uc010qhy.1	-	7	1077	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	PCDH15_uc010qhq.2_Missense_Mutation_p.E228K|PCDH15_uc010qhr.2_Missense_Mutation_p.E223K|PCDH15_uc021pqv.1_Missense_Mutation_p.E223K|PCDH15_uc021pqw.1_Missense_Mutation_p.E228K|PCDH15_uc010qht.2_Missense_Mutation_p.E223K|PCDH15_uc021pqx.1_Missense_Mutation_p.E223K|PCDH15_uc001jjv.1_Missense_Mutation_p.E201K|PCDH15_uc021pqy.1_Missense_Mutation_p.E223K|PCDH15_uc021pqz.1_Missense_Mutation_p.E201K|PCDH15_uc010qhv.1_Missense_Mutation_p.E223K|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Missense_Mutation_p.E223K|PCDH15_uc010qhz.1_Missense_Mutation_p.E223K|PCDH15_uc010qia.1_Missense_Mutation_p.E201K|PCDH15_uc001jju.1_Missense_Mutation_p.E223K|PCDH15_uc010qib.1_Missense_Mutation_p.E201K|PCDH15_uc001jjw.3_Missense_Mutation_p.E223K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	223	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTTATCTTCATAGTTGAGC	0.323000										HNSCC(58;0.16)				72			50		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579609	58579609	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:58579609C>T	uc002qrg.3	+	3	1832	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	ZNF135_uc002qre.3_Missense_Mutation_p.S586F|ZNF135_uc002qrf.3_Missense_Mutation_p.S544F|ZNF135_uc010yhq.2_Missense_Mutation_p.S598F|ZNF135_uc010yhr.2_Missense_Mutation_p.S407F|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGTGGGAAATCCTTCAGCCAC	0.547000														42			30		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230411721	230411721	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:230411721C>T	uc002vpv.3	-	4	1082	c.935G>A	c.(934-936)aGt>aAt	p.S312N	DNER_uc010zly.1_Missense_Mutation_p.S40N	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	312	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTTGCGTGACTCTCCCCCGG	0.453000														25			68		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134164356	134164356	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:134164356C>T	uc003kzw.3	+	22	3224	c.3056C>T	c.(3055-3057)tCa>tTa	p.S1019L		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	1019					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCAAAATTCATACCAACCA	0.333000														19			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067330	9067330	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9067330G>A	uc002mkp.3	-	2	20320	c.20116C>T	c.(20116-20118)Cat>Tat	p.H6706Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6708	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						TCTGTGGAATGATCAGGGCCT	0.478000														134			74		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777725	3777725	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3777725G>A	uc002cvv.3	-	30	7527	c.7323C>T	c.(7321-7323)ggC>ggT	p.G2441G	CREBBP_uc002cvw.3_Silent_p.G2403G	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2441					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.E2440K(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGCTACAAGCCCTCCACAA	0.522000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							47			38		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431629	89431630	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:89431629_89431630CC>TT	uc001pda.3	+	13	1717_1718	c.1191_1192CC>TT	c.(1189-1194)ttccca>ttTTca	p.P398S		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	398					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGGAGTCATTCCCAGGAATTTA	0.436000														56			20		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27900715	27900715	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:27900715G>A	uc002rlk.4	+	7	1969	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	563						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAACTTTTGAACTGAGGAA	0.368000														37			16		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7723015	7723015	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:7723015G>A	uc010rbf.2	-	5	567	c.567C>T	c.(565-567)gtC>gtT	p.V189V		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTGTGAGAGGACGCCACCTG	0.488000														6			6		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127318226	127318226	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:127318226C>T	uc003ejp.3	+	1	129	c.72C>T	c.(70-72)ctC>ctT	p.L24L	MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	24	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ATGATCCTCTCACCTCCAGCC	0.612000														180			34		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944093	73944093	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:73944093C>T	uc003uaq.3	+	8	1513	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P406S|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P374S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P374S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	374						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCACATGGTCCCCGTGCCCTA	0.622000														24			20		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409070	82409070	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:82409070G>A	uc001dit.4	+	5	996	c.815G>A	c.(814-816)gGt>gAt	p.G272D	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.G272D|LPHN2_uc001div.3_Missense_Mutation_p.G272D|LPHN2_uc009wcd.3_Missense_Mutation_p.G272D	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	272	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G272S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GATGAAAATGGTTTATGGGTC	0.428000														41			61		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672104	49672104	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:49672104T>C	uc002efs.3	-	4	1257	c.959A>G	c.(958-960)aAc>aGc	p.N320S	ZNF423_uc010vgn.2_Missense_Mutation_p.N203S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	320					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGTTTCTGGTTGGCGTGGGC	0.612000														32			24		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38153790	38153790	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:38153790T>C	uc002htn.1	+	11	1725	c.1561T>C	c.(1561-1563)Ttt>Ctt	p.F521L	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.F422L	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	521					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	p.E520Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GGACTTGGAGTTTGCCAAGGA	0.607000														42			26		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027727	87027727	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:87027727G>A	uc003dqn.3	-	1	716	c.352C>T	c.(352-354)Cca>Tca	p.P118S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCAGATTCTGGATGGAGGGTG	0.478000														90			50		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516963	53516963	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:53516963C>T	uc001sbv.3	+	12	1423	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	445					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGGGGTTCTTCTATCCCGTCA	0.592000														51			36		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496640	24496640	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:24496640G>A	uc002kwd.3	-	4	1144	c.915C>T	c.(913-915)ttC>ttT	p.F305F	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.F305F|CHST9_uc021uij.1_Silent_p.F220F	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	305					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTGCCTTTCCGAATACTGGAT	0.388000														66			45		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880220	37880220	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:37880220C>T	uc010efk.1	+	4	1380	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	ZNF527_uc002ogf.3_Silent_p.F391F|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAAGCCTTCAGCAGACGCA	0.433000														37			24		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239894	125239894	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:125239894G>A	uc011lyu.2	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAAAAATATGAAAAAATATG	0.413000														13			33		0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:42265791C>T	uc002xkw.3	+	11	1140	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.P340S	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000														39			14		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180053175	180053175	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:180053175G>A	uc003mlz.4	-	8	1273	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	FLT4_uc003mma.4_Silent_p.T398T|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.T398T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	398	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGGGCGAGGGTGTAGGTGC	0.657000														61			37		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72678741	72678741	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:72678741G>A	uc003pga.3	+	1	297	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	74	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.A73P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAAATGCTGAAAACCAGCC	0.438000														50			29		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863746	106863746	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:106863746G>A	uc011cfd.2	+	8	1349	c.1136G>A	c.(1135-1137)aGg>aAg	p.R379K	NPNT_uc011cfc.2_Missense_Mutation_p.R366K|NPNT_uc011cfe.2_Missense_Mutation_p.R379K|NPNT_uc003hya.3_Missense_Mutation_p.R349K|NPNT_uc011cff.2_Missense_Mutation_p.R349K	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	349					cell differentiation	membrane	calcium ion binding	p.Q379H(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ACCCCAGAAAGGCCAACCACC	0.537000														36			13		0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938448	30938448	+	RNA	SNP	A	G	G	rs146574312	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:30938448A>G	uc010azv.1	+	10		c.1258A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTATTTGTGCATGGTGGCTGG	0.483000														15			3		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970636	45970636	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:45970636G>A	uc002zfi.1	-	0	753	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	236						keratin filament		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						CACACGGGGCGGCAGAGGAGG	0.667000														89			50		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394653	47394653	+	Silent	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47394653A>G	uc002iov.4	-	1	899	c.435T>C	c.(433-435)ccT>ccC	p.P145P	ZNF652_uc002iow.3_Silent_p.P145P|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	145	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCTTAAGAACAGGAGTCTCTT	0.418000														131			74		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983262	12983262	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:12983262G>A	uc003bxt.2	-	1	178	c.169C>T	c.(169-171)Cac>Tac	p.H57Y	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.H43Y	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	57					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCTCGTAGTGATCCGGGCTC	0.692000														21			13		0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103866375	103866375	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:103866375G>A	uc003hww.3	-	5	770	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	SLC9B1_uc003hwu.3_Missense_Mutation_p.P210S|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	210						integral to membrane	solute:hydrogen antiporter activity										CATTGCCAGGGAAATTTCATA	0.348000														72			20		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	89481	89481	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrGL000209.1:89481G>A	uc002quk.1	+	3	421	c.366G>A	c.(364-366)ggG>ggA	p.G122G	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	122							receptor activity										GTCTATTTGGGAAACCTTCAC	0.547000														12			41		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267005	16267005	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:16267005C>T	uc010gqp.2	-	8	1496	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G201R|POTEH_uc002zlj.1_Missense_Mutation_p.G317R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	482										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGAATTAATCCATCATCACCA	0.428000														347			34		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656088	12656088	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:12656088G>A	uc002gno.2	+	9	1782	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	MYOCD_uc002gnn.2_Missense_Mutation_p.E495K|MYOCD_uc002gnp.1_Missense_Mutation_p.E399K|MYOCD_uc002gnq.2_Missense_Mutation_p.E214K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	495	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTGCACGGAGGAAAGTCTCAT	0.602000														24			16		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319735	21319735	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:21319735G>A	uc021tss.1	+	2	1451	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	KCNJ18_uc002gyv.1_Missense_Mutation_p.D361N|KCNJ18_uc021tst.1_Missense_Mutation_p.D361N	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	361						integral to membrane	inward rectifier potassium channel activity										CAGTGCGAAGGATCTGGTAGA	0.582000														91			12		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978548	10978548	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:10978548G>A	uc001qyy.1	-	0	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTATCTTCAGGAAATAGAAGA	0.348000														16			15		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398171	77398171	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:77398171C>T	uc002ffc.4	-	4	1305	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	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.	296	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						ACGAGGGTTTCCACATTGAGG	0.488000														62			17		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769532	247769532	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247769532C>T	uc010pyz.2	+	0	645	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACTCATCTCCATCTCCTATG	0.473000														54			7		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132236915	132236915	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:132236915C>A	uc002tsu.4	+	2	454	c.261C>A	c.(259-261)ttC>ttA	p.F87L		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	87					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCAGCTCTTCCACCCGGAGC	0.522000														84			28		1.74197e-06	1.74921e-06	1	1	0
TGM3	7053	broad.mit.edu	37	20	2290950	2290950	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:2290950C>T	uc002wfx.4	+	2	405	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	103					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)	ATCTCCAGTCCTGCCAGCGCA	0.542000														129			35		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175246	112175246	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:112175246C>T	uc003kpz.4	+	16	4148	c.3955C>T	c.(3955-3957)Cct>Tct	p.P1319S	APC_uc011cvt.2_Missense_Mutation_p.P1301S|APC_uc003kpy.4_Missense_Mutation_p.P1319S|APC_uc010jbz.3_Missense_Mutation_p.P1036S|APC_uc010jca.3_Missense_Mutation_p.P619S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1319	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.P1319fs*2(17)|p.P1319T(2)|p.D1318fs*3(2)|p.?(1)|p.P1319L(1)|p.K1192fs*3(1)|p.A1316fs*9(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCTGAAGATCCTGTGAGCGA	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				33			18		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165987886	165987886	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:165987886G>A	uc002ucx.3	-	15	2925	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	SCN3A_uc002ucy.3_Silent_p.I762I|SCN3A_uc002ucz.3_Silent_p.I762I|SCN3A_uc002uda.1_Silent_p.I631I|SCN3A_uc002udb.1_Silent_p.I631I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	811						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCATGGCAATGATCTTGAGAA	0.388000														36			26		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004235	75004235	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:75004235G>A	uc004ecj.2	-	0	845	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	218	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCCCAAAGAGGTTGTTGATC	0.488000														8			28		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502499	140502499	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140502499G>A	uc003lip.1	+	0	919	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	307	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.L306M(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAAAATTGGATTTCGAAAA	0.373000														110			68		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7060073	7060073	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:7060073G>A	uc001mfb.1	+	1	579	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	86	DAPIN.		D -> V (associated with spermatogenic failure).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAACCTGAAGGATCTGTGTGA	0.502000														16			13		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72537057	72537057	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:72537057C>T	uc010qjm.1	-	6	935	c.545G>A	c.(544-546)gGg>gAg	p.G182E	C10orf27_uc001jrj.1_Missense_Mutation_p.G181E|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.G180E|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.G201E	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	181					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						GTACTTTGCCCCCTGCTCCCG	0.642000														33			12		0	0	1	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784913	149784913	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:149784913C>T	uc010pbl.2	-	0	324	c.324G>A	c.(322-324)acG>acA	p.T108T	HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.	108					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGCACAGGTTCGTGTCTTCGA	0.627000														33			40		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407105	77407105	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:77407105G>A	uc021sqy.1	-	7	5210	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1545	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGGATAAGATGAGGTGGGGCT	0.592000														39			10		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263083	167263084	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:167263083_167263084CC>TT	uc002udu.2	-	24	4185_4186	c.4055_4056GG>AA	c.(4054-4056)cgg>cAA	p.R1352Q	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1352					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGAATGATCCGTGAGAGAAG	0.460000														40			33		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74420524	74420524	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:74420524C>G	uc003dpm.1	-	4	561	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	161	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GATGGGTATTCATTGAAGATC	0.388000														26			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691939	106691939	+	RNA	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:106691939C>T	uc021ser.1	-	1156		c.25054G>A								Parts of antibodies, mostly variable regions.																		TTGACCAGGCCTCCCCCAGAC	0.562000														96			33		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161530837	161530837	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:161530837G>A	uc003qtn.3	+	22	4429	c.4287G>A	c.(4285-4287)gaG>gaA	p.E1429E	MAP3K4_uc010kkc.1_Silent_p.E1425E|MAP3K4_uc003qto.3_Silent_p.E1379E|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Silent_p.E882E|MAP3K4_uc003qtp.3_Silent_p.E365E|MAP3K4_uc003qtq.3_Silent_p.E118E	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1429	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTTTAGAAGAGGTGTCAAGGC	0.473000														42			29		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160498	160498	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrGL000192.1:160498G>A	uc010yih.1	-	11		c.1924C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGAGCGGAGGAACCTAGAAG	0.408000														47			22		0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14069995	14069995	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:14069995C>T	uc002mxt.3	+	6	929	c.923C>T	c.(922-924)tCt>tTt	p.S308F	DCAF15_uc002mxu.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	308										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCGTTCTTCTGGGTCTCCT	0.697000														47			42		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327417	27327417	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27327417C>T	uc010lur.3	-	2	764	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CHRNA2_uc011lal.2_Missense_Mutation_p.G52E|CHRNA2_uc010lus.3_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	52						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGCGAGCCTCCCTGCGGCAA	0.632000														52			33		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75740650	75740650	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:75740650G>A	uc010oqz.1	-	4	436	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	SLC44A5_uc001dgt.2_Missense_Mutation_p.P85S|SLC44A5_uc001dgs.2_Missense_Mutation_p.P43S|SLC44A5_uc001dgr.2_Missense_Mutation_p.P43S|SLC44A5_uc001dgu.3_Missense_Mutation_p.P85S|SLC44A5_uc010ora.2_Missense_Mutation_p.P79S|SLC44A5_uc010orb.2_Intron	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	85						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTCATTGGGAGTGCCCTTC	0.473000														14			7		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570405	55570405	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55570405C>T	uc021pqw.1	-	34	4818	c.4423G>A	c.(4423-4425)Ggg>Agg	p.G1475R	PCDH15_uc010qhq.2_Missense_Mutation_p.G1468R|PCDH15_uc010qhr.2_Missense_Mutation_p.G1463R|PCDH15_uc021pqv.1_Missense_Mutation_p.M1488I|PCDH15_uc010qht.2_Missense_Mutation_p.G1470R|PCDH15_uc021pqx.1_Missense_Mutation_p.M1486I	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1475V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGCGACTCCCATATTGAGGC	0.408000										HNSCC(58;0.16)				85			37		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967891	4967891	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4967891C>T	uc010qys.2	-	0	440	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATACTATCCCTATTTGGGC	0.423000														243			42		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672751	62672751	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:62672751G>A	uc021ooc.1	+	3	886	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	L1TD1_uc001dae.4_Missense_Mutation_p.E151K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	151										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						caacactaacgaatacaatag	0.328000														13			16		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425710	75425710	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:75425710G>A	uc002sng.2	-	0	936	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TACR1_uc002snh.3_Silent_p.F117F	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	117					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGATACTGGCGAAGACAGCGG	0.493000														57			8		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735767	55735767	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55735767G>A	uc010rit.2	-	0	173	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58F(2)|p.S58S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCAAAAGGGAAAAATTGCT	0.348000														65			16		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1257738	1257738	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:1257738C>T	uc001lta.3	+	23	3062	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A	MUC5B_uc009yct.2_Silent_p.A1001A	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1001	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGGATGGCCGTGTCCTGGG	0.632000														36			6		0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64219504	64219504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64219504G>A	uc001jmc.2	+	3	1244	c.929G>A	c.(928-930)tGg>tAg	p.W310*	ZNF365_uc001jmb.4_Nonsense_Mutation_p.W310*	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTTCAGAGCTGGAAAGGTGCT	0.502000														5			3		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488698	108488698	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:108488698C>T	uc010ywk.2	+	19	4320	c.4238C>T	c.(4237-4239)cCa>cTa	p.P1413L	RGPD4_uc002tdu.3_Missense_Mutation_p.P600L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1413	RanBD1 2.				intracellular transport		binding	p.P1413Q(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACAATAACTCCAGACATGAGT	0.358000														260			61		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674911	9674911	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:9674911G>A	uc010vvb.2	-	5	846	c.833C>T	c.(832-834)cCc>cTc	p.P278L	DHRS7C_uc010cof.3_Missense_Mutation_p.P277L	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	278						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CTTGGGGATGGGGTTGGCCAT	0.602000														15			8		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41049411	41049411	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:41049411G>A	uc003jmj.4	-	13	1962	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S46L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	491							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						AAGTGCTGTCGACTCCTTGGC	0.463000														20			11		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626719	108626719	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:108626719G>A	uc002tdv.3	+	8	1421	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	SLC5A7_uc010ywm.2_Missense_Mutation_p.R135Q|SLC5A7_uc010fjj.3_Missense_Mutation_p.R382Q|SLC5A7_uc010ywn.2_Missense_Mutation_p.R269Q	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	382					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGTTATGCGAATCACAGTG	0.453000														49			13		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884066	19884066	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:19884066G>A	uc010vav.2	-	1	411	c.180C>T	c.(178-180)tcC>tcT	p.S60S	GPRC5B_uc021tef.1_Silent_p.S26S|GPRC5B_uc002dgt.3_Silent_p.S34S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	34										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGCCTCGGGATGTGCTGG	0.637000														27			8		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51044299	51044299	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:51044299C>T	uc003bmx.3	+	8	2175	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	MAPK8IP2_uc003bmy.3_Silent_p.F659F|MAPK8IP2_uc011asc.2_Silent_p.F41F	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	687	PID.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGTGCAGTTCCTGGGCTCCG	0.677000														3			4		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857223	9857223	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:9857223G>A	uc010uym.2	-	13	4488	c.4178C>T	c.(4177-4179)tCc>tTc	p.S1393F	GRIN2A_uc002czo.4_Missense_Mutation_p.S1393F|GRIN2A_uc010uyn.2_Missense_Mutation_p.P1122S|GRIN2A_uc002czr.4_Missense_Mutation_p.P1279S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1393					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCGCCTGGGATGGCAACGA	0.547000														45			16		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134086557	134086557	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:134086557G>A	uc003eqf.2	-	2	1114	c.997C>T	c.(997-999)Cca>Tca	p.P333S	AMOTL2_uc003eqg.1_Missense_Mutation_p.P275S|AMOTL2_uc003eqh.1_Missense_Mutation_p.P275S|AMOTL2_uc003eqe.1_5'Flank	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	275										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATGTGGGGGAGGGGGG	0.657000														19			14		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999892	112999892	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:112999892C>T	uc001ebx.3	+	5	2006	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	593						actin cytoskeleton	protein binding	p.S592Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCCTTCTCCATCTGCTACC	0.552000														29			42		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064443	78064443	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:78064443G>A	uc002ffh.4	+	2	380	c.299G>A	c.(298-300)gGa>gAa	p.G100E	CLEC3A_uc021tlr.1_Missense_Mutation_p.G48E	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	100	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TCCAAAGGAGGAATCCTGGTT	0.478000														47			11		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44073952	44073952	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:44073952A>G	uc003bdy.2	-	12	1657	c.1343T>C	c.(1342-1344)aTg>aCg	p.M448T	EFCAB6_uc003bdz.2_Missense_Mutation_p.M296T|EFCAB6_uc010gzi.2_Missense_Mutation_p.M296T|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_3'UTR	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	448	EF-hand 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGCATTTGCATTAGTTCTTT	0.403000														50			15		0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35504489	35504489	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:35504489C>T	uc010xsf.1	+	8	779	c.779C>T	c.(778-780)aCc>aTc	p.T260I	GRAMD1A_uc002nxi.1_Missense_Mutation_p.T342I|GRAMD1A_uc010xse.1_Missense_Mutation_p.T255I|GRAMD1A_uc002nxk.2_Missense_Mutation_p.T248I|GRAMD1A_uc002nxl.2_Missense_Mutation_p.T21I|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	255						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCGACATCACCTCCTCGGGG	0.652000														34			22		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54645476	54645476	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:54645476C>T	uc003jpy.4	+	11	1582	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	SKIV2L2_uc011cqi.2_Missense_Mutation_p.P338L	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	439	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AAAAAACTCCCTCAGGTGAGT	0.318000														44			14		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539287	56539287	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56539287C>T	uc002qmj.3	+	6	1688	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V	NLRP5_uc002qmi.3_Missense_Mutation_p.A544V	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	563	NACHT.					mitochondrion|nucleolus	ATP binding	p.R562C(1)		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)		GAGCTCCGTGCTCTGTTTCAC	0.542000														16			10		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:87043668C>T	uc009wcs.3	+	11	2079	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	CLCA4_uc009wct.3_Missense_Mutation_p.R442W|CLCA4_uc009wcu.3_Missense_Mutation_p.R499W	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R679W(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTAAAAGTTCGGGCTCATGG	0.438000														9			15		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109717564	109717564	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:109717564G>A	uc001toe.4	-	9	1571	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	FOXN4_uc009zvg.3_Missense_Mutation_p.S286F|FOXN4_uc001tof.4_Missense_Mutation_p.S309F	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	489					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GTCCGGAGTGGAGTACGCTGT	0.632000														3			5		0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25057171	25057171	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:25057171G>A	uc002wuf.3	-	4	859	c.824C>T	c.(823-825)tCc>tTc	p.S275F	VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	275	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						CATCCCCATGGATTTTTTATG	0.348000														44			36		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102160057	102160057	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:102160057C>T	uc001tit.3	-	11	1616	c.1424G>A	c.(1423-1425)aGt>aAt	p.S475N	U6_uc021rcr.1_5'Flank	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	475	Gly-rich.				cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AATATAGCGACTCCCTCCACT	0.488000														76			34		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790355	4790355	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4790355G>A	uc010qyl.2	-	0	793	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	265						integral to membrane	olfactory receptor activity	p.R265C(2)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGACCATAGCGATACACCAAG	0.512000														29			20		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175907	79175907	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:79175907G>A	uc001xun.3	+	3	941	c.450G>A	c.(448-450)atG>atA	p.M150I	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.M284I	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	154	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCTTGACATGGGCTCTGGCA	0.502000														77			58		0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436016	8436016	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:8436016G>A	uc002mjq.1	+	4	933	c.738G>A	c.(736-738)gcG>gcA	p.A246A	ANGPTL4_uc002mjr.1_Silent_p.A208A|ANGPTL4_uc010xkc.1_Silent_p.A79A	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	246	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCTACAAGGCGGGGTTTGGGG	0.607000														15			5		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394555	17394555	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:17394555G>T	uc010xpn.1	+	4	1258	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.D328Y|ANKLE1_uc010eao.1_Missense_Mutation_p.D350Y|ANKLE1_uc002nfy.2_Missense_Mutation_p.D317Y|ANKLE1_uc002nfz.2_Missense_Mutation_p.D34Y			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	328	LEM.					nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACATCCATTGATAGTGACAT	0.612000														70			45		1.47857e-17	1.49466e-17	1	1	0
FKRP	79147	broad.mit.edu	37	19	47259901	47259901	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:47259901C>T	uc002pfn.2	+	3	1491	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	FKRP_uc002pfp.2_Silent_p.V398V|FKRP_uc021uwj.1_Silent_p.V398V	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	398						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGCGGTCGAGGGCGACT	0.632000														12			11		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127678	152127678	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152127678C>T	uc001ezs.1	-	2	1962	c.1897G>A	c.(1897-1899)Gga>Aga	p.G633R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	633	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATCCCTGTCCCTGGTTTTGG	0.493000														98			39		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969735	118969735	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:118969735C>A	uc003ksm.2	+	2	502	c.292C>A	c.(292-294)Cgc>Agc	p.R98S	FAM170A_uc003ksl.2_Missense_Mutation_p.R98S|FAM170A_uc003ksn.3_Missense_Mutation_p.R98S|FAM170A_uc003kso.3_Missense_Mutation_p.R51S	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	98						intracellular	zinc ion binding	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACTCCTCCCCGCTCACAACA	0.478000														31			20		1.33834e-09	1.34726e-09	1	1	0
MAP3K10	4294	broad.mit.edu	37	19	40698547	40698547	+	Silent	SNP	G	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:40698547G>T	uc002ona.3	+	0	897	c.609G>T	c.(607-609)gtG>gtT	p.V203V		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	203	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTGTGCAGGTGGCCCGGGGCA	0.602000														21			7		2.0095e-06	2.01617e-06	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35647947	35647947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:35647947C>T	uc003xjr.2	+	16	3056	c.2728C>T	c.(2728-2730)Cag>Tag	p.Q910*	UNC5D_uc003xjs.2_Nonsense_Mutation_p.Q905*|UNC5D_uc003xju.2_Nonsense_Mutation_p.Q486*|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	910	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCTCGTCATCAGCATGATGG	0.448000														78			40		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869973	151869973	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:151869973C>T	uc022chf.1	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I	MAGEA6_uc004ffq.1_Silent_p.I221I|MAGEA6_uc004ffr.1_Silent_p.I221I	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	221	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGAAAATCTGGGAGGAGC	0.517000														41			109		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585619	82585619	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:82585619C>T	uc003uhx.2	-	4	4939	c.4650G>A	c.(4648-4650)ggG>ggA	p.G1550G	PCLO_uc003uhv.2_Silent_p.G1550G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1481					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCCTCTTCCCCTGATCCTT	0.418000														44			11		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071169	102071169	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:102071169G>A	uc001tii.3	+	25	3225	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYBPC1_uc001tig.3_Missense_Mutation_p.D1036N|MYBPC1_uc010svr.2_Missense_Mutation_p.D1011N|MYBPC1_uc010svs.2_Missense_Mutation_p.D1029N|MYBPC1_uc001tij.3_Missense_Mutation_p.D1011N|MYBPC1_uc010svt.2_Missense_Mutation_p.D999N|MYBPC1_uc010svu.2_Missense_Mutation_p.D992N|MYBPC1_uc001tik.3_Missense_Mutation_p.D985N|MYBPC1_uc001tih.3_Missense_Mutation_p.D1036N|MYBPC1_uc010svq.2_Missense_Mutation_p.D998N|MYBPC1_uc001til.3_Missense_Mutation_p.D54N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	1029					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCGCCAGGGATGGTGAGTT	0.448000														20			7		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432347	20432347	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:20432347G>A	uc001iqg.1	+	5	1301	c.664_splice	c.e5+1	p.G222_splice	PLXDC2_uc001iqh.1_Splice_Site_p.G173_splice|PLXDC2_uc009xkc.1_Splice_Site	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	222						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTGATAATGGTATGTGTTGA	0.338000														29			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215820984	215820984	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:215820984C>T	uc001hku.1	-	66	15058	c.14671G>A	c.(14671-14673)Ggg>Agg	p.G4891R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4891	Fibronectin type-III 34.				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)		GCTTTCTGCCCCAGCCCCGTG	0.557000										HNSCC(13;0.011)				33			23		0	0	1	0	0
FAM69A	388650	broad.mit.edu	37	1	93312881	93312881	+	Silent	SNP	A	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:93312881A>C	uc001dpg.3	-	3	426	c.333T>G	c.(331-333)gtT>gtG	p.V111V	FAM69A_uc001dpc.3_Silent_p.V111V|FAM69A_uc010otg.2_Silent_p.V104V|FAM69A_uc021opu.1_Silent_p.V86V|FAM69A_uc021opv.1_Silent_p.V66V|FAM69A_uc021opw.1_Intron	NM_001006605	NP_001006606	Q5T7M9	FA69A_HUMAN	Homo sapiens family with sequence similarity 69, member A (FAM69A), transcript variant 1, mRNA.	111						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		GACATTTCACAACACCTGGTA	0.328000														38			4		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128723	126128723	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:126128723C>T	uc001uhe.1	+	5	1532	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TMEM132B_uc001uhf.1_Silent_p.F20F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	508						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTCCCAGTTCGAGGTCACTG	0.527000														24			14		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3813832	3813832	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:3813832G>A	uc002lyw.2	-	13	2240	c.2228C>T	c.(2227-2229)cCc>cTc	p.P743L		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	743						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTCTGTGGAGGGGTCCTCCCG	0.652000														61			50		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852549	137852549	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:137852549C>T	uc002tva.1	+	2	964	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.R212C	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAAGACATGCCGTTCAGGGAG	0.527000														27			24		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109816600	109816600	+	Missense_Mutation	SNP	G	A	A	rs147982272		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:109816600G>A	uc003ptn.2	-	38	5436	c.5359C>T	c.(5359-5361)Ccc>Tcc	p.P1787S	AKD1_uc011eas.1_Missense_Mutation_p.P172S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1787					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	p.P186S(1)		endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CTTAATGGGGGAAGCTTGTGT	0.383000														46			24		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948748	198948748	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:198948748G>A	uc010fsp.3	+	1	905	c.507G>A	c.(505-507)ggG>ggA	p.G169G	PLCL1_uc002uuv.4_Silent_p.G90G	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	169	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAGACTGGGGAAAAACACGG	0.468000														41			34		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221994	1221994	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:1221994C>T	uc003jbw.4	+	11	1936	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	627					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCACAGCCTCCATGAACGGG	0.607000														23			18		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62182382	62182382	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:62182382G>A	uc002agz.3	-	66	9414	c.9323C>T	c.(9322-9324)tCc>tTc	p.S3108F	VPS13C_uc002aha.3_Missense_Mutation_p.S3065F|VPS13C_uc002ahb.2_Missense_Mutation_p.S3108F|VPS13C_uc002ahc.2_Missense_Mutation_p.S3065F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3108					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						CCCAATATAGGAAACTTCCTG	0.378000														26			6		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7796822	7796822	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:7796822C>T	uc002gjd.2	+	4	907	c.905C>T	c.(904-906)cCa>cTa	p.P302L	CHD3_uc002gje.2_Missense_Mutation_p.P243L|CHD3_uc002gjf.2_Missense_Mutation_p.P243L|CHD3_uc002gjg.1_Missense_Mutation_p.P75L	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	243					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCGCCCTTCCACCACCCCCT	0.632000														24			17		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869592	4869592	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4869592G>A	uc010qyo.2	-	0	847	c.847C>T	c.(847-849)Cta>Tta	p.L283L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	283					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)		ACATAGGATAGAAGAGTATGG	0.448000														68			38		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588903	119588903	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:119588903G>A	uc001txa.2	+	9	1546	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	386	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCTCACCCATGAAAGGGTGTT	0.587000														37			23		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862116	108862116	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:108862116G>A	uc001vqn.3	-	1	1774	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y	LIG4_uc001vqo.3_Missense_Mutation_p.H501Y|LIG4_uc010agf.3_Missense_Mutation_p.H501Y|LIG4_uc001vqp.3_Missense_Mutation_p.H501Y|LIG4_uc010agg.1_Missense_Mutation_p.H434Y|LIG4_uc021rmk.1_Missense_Mutation_p.H501Y	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	501					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GAGAGAGTATGAAACACAGAT	0.473000								Non-homologous end-joining						87			93		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958719	53958719	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:53958719C>T	uc010eqp.3	+	6	1416	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H266Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H266Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAGGATAATTCATACTGAAGA	0.383000														66			21		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617395	77617395	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:77617395C>T	uc003yau.2	+	1	1459	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ZFHX4_uc003yat.1_Missense_Mutation_p.P358S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P358S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	358						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)			AGGACCCGATCCAACCTTCCG	0.453000										HNSCC(33;0.089)				41			28		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263168	55263168	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55263168C>T	uc002qgx.3	+	5	820	c.783C>T	c.(781-783)ctC>ctT	p.L261L	KIR2DL1_uc010erw.1_Silent_p.L261L|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	260					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.L261L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcctcttctttctcc	0.512000														2			10		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569599	248569599	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248569599G>A	uc010pzm.2	+	0	304	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCCAAACAGATTTGCGCCT	0.418000														134			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446729	179446729	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179446729C>T	uc021vsy.1	-	263	58888	c.58663G>A	c.(58663-58665)Ggt>Agt	p.G19555S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13250S|TTN_uc021vta.1_Missense_Mutation_p.G13183S|TTN_uc021vtb.1_Missense_Mutation_p.G13058S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20482	Ig-like 109.						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)			TATTCGGTACCTTCTTGAAGA	0.443000														63			55		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112717094	112717095	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:112717094_112717095CC>AT	uc021reb.1	-	8	1588_1589	c.1192_1193GG>AT	c.(1192-1194)gga>ATa	p.G398I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GCTGCCTGATCCCCCTGGAGGA	0.470000														55			30		0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38260359	38260359	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:38260359G>A	uc001cby.2	+	0	586	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	MANEAL_uc001cbx.2_Missense_Mutation_p.E169K|MANEAL_uc001cbz.2_5'Flank	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	169						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGGACCCCGAAGTGCTGCG	0.711000														43			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041520	90041520	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:90041520C>T	uc003kju.3	+	51	10978	c.10882C>T	c.(10882-10884)Ccc>Tcc	p.P3628S	GPR98_uc003kjt.3_Missense_Mutation_p.P1334S|GPR98_uc003kjv.3_Missense_Mutation_p.P1228S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3628					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)		ACTTAAAAATCCCAAAGGAGG	0.358000														28			17		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552139	100552139	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:100552139C>G	uc003uxl.1	+	0	1390	c.590C>G	c.(589-591)aCc>aGc	p.T197S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTTCTTCAACCAGCTCCTCT	0.458000														476			35		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556543	52556543	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:52556543G>A	uc002lfr.3	+	5	799	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	186					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GAAGCGAATGGAACAGTGTGT	0.413000														30			22		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006851	34006851	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:34006851G>A	uc001bxm.1	-	58	9513	c.9336C>T	c.(9334-9336)ttC>ttT	p.F3112F	CSMD2_uc001bxn.1_Silent_p.F2968F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3086	Sushi 24.					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)				TGTTGTACCTGAAGTCATTGC	0.488000														32			39		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183124	56183124	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:56183124C>T	uc021wzo.1	-	3	1326	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	ERC2_uc003dhr.1_Missense_Mutation_p.D396N	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	396						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCTCAAGATCCCTTATGTTT	0.343000														23			8		0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766694	67766695	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:67766694_67766695GG>AA	uc001omw.1	-	4	715_716	c.635_636CC>TT	c.(634-636)tcc>tTT	p.S212F		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	212					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											AGGGCGCGTGGGAGCCCCGCGG	0.599000														34			27		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35888275	35888275	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:35888275G>A	uc003olj.3	-	1	168	c.44C>T	c.(43-45)aCc>aTc	p.T15I	SRPK1_uc003olh.3_5'UTR|SRPK1_uc003oli.3_5'UTR|SRPK1_uc011dtg.2_5'UTR	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	15					RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTTGGCCTTGGTCCTTTTCTT	0.547000														99			57		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593192	11593192	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:11593192G>A	uc002gne.3	+	19	4121	c.4053G>A	c.(4051-4053)agG>agA	p.R1351R	DNAH9_uc010coo.3_Silent_p.R645R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1351	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAGGTCAGGGCCTGGGATG	0.587000														7			6		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129217	83129217	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:83129217G>A	uc004eei.1	+	3	1522	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	CYLC1_uc004eeh.1_Missense_Mutation_p.E500K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	501					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACACTCAAAGGAAAAGAAAGG	0.348000														2			10		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604894	179604894	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:179604894C>T	uc010pnp.2	+	8	1910	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	TDRD5_uc021pfm.1_Silent_p.L464L|TDRD5_uc001gnf.2_Silent_p.L464L|TDRD5_uc021pfn.1_Silent_p.L464L|TDRD5_uc001gnh.2_Silent_p.L19L	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	464					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TATGCAGACTCCCACCATTAG	0.448000														31			32		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306529	54306529	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:54306529G>A	uc021smr.1	+	0	1429	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	UNC13C_uc021sms.1_Missense_Mutation_p.G477R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	477					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTAACAAAGGGAAGTACTTC	0.378000														45			30		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005214	25005214	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:25005214G>A	uc003grf.2	-	7	1596	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	499						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TAAACTTTTTGAATAGCTGCT	0.438000														48			11		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31605947	31605947	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:31605947G>A	uc002rnv.1	-	10	1037	c.958C>T	c.(958-960)Cct>Tct	p.P320S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	320	FAD-binding PCMH-type.				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)	TTTTGGGCAGGAAGCTTAGCA	0.552000														38			8		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465736	1465736	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:1465736G>A	uc002lsr.1	+	14	2644	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	APC2_uc002lss.1_Silent_p.Q394Q|APC2_uc002lst.1_Silent_p.Q812Q|APC2_uc002lsu.1_Silent_p.Q811Q|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	812					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCCTGCAGGGGCAGGCGC	0.741000														5			3		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739450	28739450	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:28739450G>A	uc002kwn.3	-	1	368	c.106C>T	c.(106-108)Cga>Tga	p.R36*	DSC1_uc002kwm.3_Nonsense_Mutation_p.R36*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	36					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAAGGAACTCGAAGATAAACT	0.333000														18			13		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353881	113353881	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:113353881T>A	uc003ynu.3	-	41	6636	c.6477A>T	c.(6475-6477)gaA>gaT	p.E2159D	CSMD3_uc003yns.3_Missense_Mutation_p.E1361D|CSMD3_uc003ynt.3_Missense_Mutation_p.E2119D|CSMD3_uc011lhx.2_Missense_Mutation_p.E2055D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2159	CUB 12.					integral to membrane|plasma membrane		p.E2159V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGTATGGTTTCTGTAGAAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				21			12		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156192	151156192	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:151156192C>T	uc011bod.2	-	5	6157	c.6157G>A	c.(6157-6159)Ggg>Agg	p.G2053R	IGSF10_uc011bob.2_Missense_Mutation_p.G80R|IGSF10_uc011boc.2_Missense_Mutation_p.G32R	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2053	Ig-like C2-type 7.				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)			AAATCTTTCCCATGGAGCACT	0.438000														63			35		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285204	44285204	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:44285204C>T	uc010qfe.1	-	0	662	c.632G>A	c.(631-633)gGa>gAa	p.G211E						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CCTCTGTGATCCAGCCGGCTG	0.453000														31			24		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131301	72131301	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:72131301C>T	uc004ahh.2	-	1	1102	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	276	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGCTTCACCTCGGCCACTATC	0.682000														5			16		0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65167281	65167281	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:65167281C>T	uc001odu.4	+	7	1070	c.878C>T	c.(877-879)tCt>tTt	p.S293F	FRMD8_uc009yqj.3_Missense_Mutation_p.S237F|FRMD8_uc010rof.2_Missense_Mutation_p.S259F	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	293	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						AAGCCAGTTTCTGTGGCCATC	0.632000														46			38		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115596807	115596807	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:115596807C>T	uc003vhj.2	-	3	561	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TFEC_uc003vhm.2_Missense_Mutation_p.G36E|TFEC_uc003vhk.2_Missense_Mutation_p.G74E|TFEC_uc003vhl.4_Missense_Mutation_p.G74E|TFEC_uc011kmw.2_Missense_Mutation_p.G193E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	103	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGGTGAAATTCCTTGTTCACC	0.333000														30			22		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290726	5290726	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5290726C>T	uc001mal.1	-	1	539	c.273G>A	c.(271-273)gaG>gaA	p.E91E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.E91E	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.E91*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAGTGCAGCTCACTCAGCT	0.458000														52			23		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31278475	31278475	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:31278475C>T	uc010sjy.1	-	26	3514	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAAATTCTTCTGTCTTGGGT	0.418000														4			14		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104703	168104703	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:168104703G>A	uc002udx.3	+	8	6890	c.6801G>A	c.(6799-6801)atG>atA	p.M2267I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M2092I|XIRP2_uc010fpq.3_Missense_Mutation_p.M2045I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2092					actin cytoskeleton organization	cell junction	actin binding	p.A2266E(1)		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						AAATGGCAATGGAAAGGTCCT	0.423000														51			20		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169604186	169604186	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:169604186G>A	uc011cjx.2	+	4	1403	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R	PALLD_uc003iru.3_Missense_Mutation_p.G398R|PALLD_uc003irv.3_Missense_Mutation_p.G16R	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	398					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTGACAATAGGATCATCATC	0.403000									Pancreatic Cancer, Familial Clustering of					34			10		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938428	38938428	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38938428C>T	uc021wvy.1	-	13	2510	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	771					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)	CACATATTTTCGATCCATTCC	0.473000														32			26		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51799060	51799061	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:51799060_51799061AC>CT	uc003pah.1	-	36	6244_6245	c.5968_5969GT>AG	c.(5968-5970)gtt>AGt	p.V1990S	PKHD1_uc010jzn.1_Missense_Mutation_p.V15S|PKHD1_uc003pai.3_Missense_Mutation_p.V1990S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1990	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCATCAGAAACAAGGATGGCG	0.530000											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			24		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232454	1232454	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:1232454C>T	uc003jby.2	+	1	404	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	94					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGGCCATCTCCCCGTACCTC	0.687000														15			9		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531530	42531530	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:42531530C>T	uc010dni.3	+	3	2521	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	742						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCGAAGAACCCAAAACAGCC	0.562000									Schinzel-Giedion syndrome					18			15		0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256068	34256068	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:34256068C>T	uc003zua.4	-	10	3657	c.3537G>A	c.(3535-3537)acG>acA	p.T1179T	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1179					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1179M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CATCCAGCCCCGTCTCCTCTG	0.562000														10			24		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783229	54783229	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:54783229G>A	uc002qfb.3	-	4	895	c.629C>T	c.(628-630)cCc>cTc	p.P210L	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.P210L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.P210L|LILRB2_uc010yet.2_Missense_Mutation_p.P94L|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	210	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGATCACTGGGTGAAGACCA	0.592000														62			42		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050753	84050753	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	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			17		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040924	29040924	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:29040924G>A	uc002kws.3	+	7	922	c.813_splice	c.e7+1	p.Q271_splice		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	271	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGACTCTCAGGTACACCCAT	0.343000														14			4		0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938440	30938440	+	RNA	SNP	A	G	G	rs115448147	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:30938440A>G	uc010azv.1	+	10		c.1250A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTCCTTTGCTATTTGTGCATG	0.493000														19			3		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008312	29008312	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:29008312C>T	uc001usb.3	-	4	844	c.559G>A	c.(559-561)Gac>Aac	p.D187N	FLT1_uc010aar.1_Missense_Mutation_p.D187N|FLT1_uc001usc.3_Missense_Mutation_p.D187N|FLT1_uc010tdp.1_Missense_Mutation_p.D187N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	187	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCTACTGTCCCAGATTATG	0.413000														39			26		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168549	171168549	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:171168549G>A	uc001ghk.1	+	4	666	c.549G>A	c.(547-549)gaG>gaA	p.E183E	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	183					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGATTTGAGGGAAAACGCA	0.478000														78			31		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39795360	39795360	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:39795360C>T	uc010gnw.3	-	4	676	c.381G>A	c.(379-381)acG>acA	p.T127T	ERG_uc021wjd.1_Silent_p.T127T|ERG_uc002yxa.3_Silent_p.T120T|ERG_uc011aek.2_Silent_p.T28T|ERG_uc010gnv.3_Silent_p.T28T|ERG_uc010gnx.3_Silent_p.T127T|ERG_uc011ael.2_Silent_p.T127T|ERG_uc002yxb.3_Silent_p.T127T|ERG_uc011aem.1_Silent_p.T120T|ERG_uc002yxc.4_Silent_p.T127T	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	127	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TGCGCTCGTTCGTGGTCATGT	0.607000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									30			15		0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984373	77984373	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:77984373G>A	uc002jxj.3	-	2	481	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	122						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGGCTGGTGGGAGGCTCCTGA	0.701000														18			11		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27356151	27356151	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:27356151G>A	uc009xku.1	-	9	1314	c.1142C>T	c.(1141-1143)cCa>cTa	p.P381L	ANKRD26_uc001itg.2_Missense_Mutation_p.P100L|ANKRD26_uc001ith.2_Missense_Mutation_p.P381L	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	381						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGCTCTAGTGGAGCACTTTC	0.294000														28			10		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10279935	10279935	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:10279935G>A	uc002wnq.2	+	6	639	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SNAP25_uc002wnr.2_Missense_Mutation_p.E143K|SNAP25_uc002wns.2_Missense_Mutation_p.E80K|SNAP25_uc010gca.2_Missense_Mutation_p.E143K	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	143	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TGATGCCCGAGAAAATGAAAT	0.463000														120			36		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940160	68940160	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:68940160C>T	uc009xpn.1	-	6	1085	c.962G>A	c.(961-963)aGg>aAg	p.R321K	CTNNA3_uc001jmw.2_Missense_Mutation_p.R321K|CTNNA3_uc001jmx.4_Missense_Mutation_p.R321K|CTNNA3_uc009xpo.1_Missense_Mutation_p.R181K|CTNNA3_uc001jna.2_Missense_Mutation_p.R333K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	321					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTGTAAGTCCCTCGTACATGA	0.502000														36			17		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815186	137815186	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:137815186G>A	uc003qhp.1	-	0	346	c.122C>T	c.(121-123)tCg>tTg	p.S41L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGCGTGGACGAGACCGAGTT	0.607000														72			36		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44912586	44912586	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:44912586G>A	uc001ztx.3	-	14	2667	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F	SPG11_uc010ueh.2_Missense_Mutation_p.S879F|SPG11_uc010uei.2_Missense_Mutation_p.S879F|SPG11_uc001ztz.1_Missense_Mutation_p.S38F	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	879					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCTTCAGGGGAATATGATTT	0.313000														18			8		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429276	57429276	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:57429276A>G	uc002xzw.3	+	0	1241	c.956A>G	c.(955-957)gAc>gGc	p.D319G	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGGGGTCGACGACACTCCC	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				14			17		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10084758	10084758	+	Silent	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:10084758T>C	uc003buw.3	+	11	991	c.913T>C	c.(913-915)Ttg>Ctg	p.L305L	FANCD2_uc003bux.1_Silent_p.L305L|FANCD2_uc003buy.1_Silent_p.L305L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	305	Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCGGGAGAAGTTGGATCTGCA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					39			25		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38907262	38907262	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:38907262C>T	uc002hve.3	-	4	962	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	301	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGCTTCATTTCAGTCAGCTCA	0.473000														69			39		0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457382	42457382	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:42457382C>T	uc002igt.1	-	16	1772	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ITGA2B_uc002igu.1_Missense_Mutation_p.M61I	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	580					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GAAGGAAGGCCATGGTGGTGT	0.637000														28			18		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452184	41452184	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:41452184C>T	uc002yyq.1	-	24	4767	c.4315G>A	c.(4315-4317)Gaa>Aaa	p.E1439K	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.	1439	Fibronectin type-III 5.				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)				TTGAGATTTTCCAAGCGATAG	0.478000														61			30		0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43455516	43455516	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:43455516G>A	uc003bdi.3	-	7	1006	c.765C>T	c.(763-765)atC>atT	p.I255I	TTLL1_uc010gzh.3_Silent_p.I255I|TTLL1_uc021wqt.1_Silent_p.I217I|TTLL1_uc003bdj.3_Silent_p.I141I	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	255	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCCCCCATGGATGTGGTTGT	0.602000														11			10		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553772	19553772	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:19553772C>T	uc001vuz.1	+	0	408	c.356C>T	c.(355-357)cCt>cTt	p.P119L	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	119								p.P119L(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGTGGGCCCTTGGGGAGAC	0.597000														818			49		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806797	54806797	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54806797A>T	uc003pck.3	+	4	3144	c.3028A>T	c.(3028-3030)Aat>Tat	p.N1010Y		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	1010										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)					TATACACAAAAATAAATAGCT	0.318000														15			12		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941798	12941798	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:12941798G>A	uc001aun.2	-	2	823	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	251										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTCTGGGGAAACGTAGCG	0.488000														204			49		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749347	79749347	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:79749347G>A	uc002bew.1	+	1	933	c.858G>A	c.(856-858)agG>agA	p.R286R	KIAA1024_uc010unk.1_Silent_p.R286R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	286						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATGAGCACAGGGAACCCCAGA	0.493000														60			43		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73166000	73166000	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:73166000G>A	uc010izf.3	+	20	2708	c.2532G>A	c.(2530-2532)gaG>gaA	p.E844E	RGNEF_uc011csq.2_Silent_p.E844E|RGNEF_uc021yam.1_Silent_p.E844E|RGNEF_uc011csr.2_Silent_p.E531E	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	844					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATAGGCAGGAGAAGGATGTCA	0.438000														28			22		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177245530	177245530	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:177245530G>A	uc001glf.3	+	5	1284	c.972G>A	c.(970-972)caG>caA	p.Q324Q	FAM5B_uc010pna.1_Silent_p.Q74Q|FAM5B_uc001glg.3_Silent_p.Q219Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	324						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						TGCAGATCCAGGACTCCTGGG	0.567000														41			6		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86257249	86257249	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:86257249A>G	uc003pkr.3	-	9	1080	c.887T>C	c.(886-888)cTt>cCt	p.L296P	SNX14_uc003pkp.3_Missense_Mutation_p.L159P|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.L244P|SNX14_uc003pks.3_Missense_Mutation_p.L252P|SNX14_uc003pkt.3_Missense_Mutation_p.L296P	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	296	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GAAGATGATAAGCAAATGATT	0.299000														11			8		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474954	78474954	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:78474954C>T	uc002bdh.3	-	6	954	c.748G>A	c.(748-750)Gag>Aag	p.E250K	ACSBG1_uc010umx.2_Missense_Mutation_p.E8K|ACSBG1_uc010umw.2_Missense_Mutation_p.E246K|ACSBG1_uc010umy.2_Missense_Mutation_p.E143K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	250					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATGAATTCCTCCATCTGTAGC	0.607000														52			15		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400355	40400355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:40400355C>T	uc003oph.1	-	1	963	c.498G>A	c.(496-498)tgG>tgA	p.W166*		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	166						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)					GCACGGAGTCCCACGGCAGGC	0.592000														60			31		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932017	83932017	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:83932017C>T	uc002bjt.1	-	3	2074	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	BNC1_uc010uos.1_Missense_Mutation_p.M650I	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	662					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTTGGGGTTCCATCCCAGGTG	0.532000														19			31		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132211584	132211584	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:132211584G>A	uc011ecf.2	+	24	2731	c.2711G>A	c.(2710-2712)aGa>aAa	p.R904K		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	904	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.R852I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATCAACAAAGAAAAGAGCCA	0.393000														57			36		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124329702	124329702	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:124329702C>T	uc001lgk.1	+	2	222	c.116C>T	c.(115-117)cCc>cTc	p.P39L	DMBT1_uc001lgl.1_Missense_Mutation_p.P39L|DMBT1_uc001lgm.1_Missense_Mutation_p.P39L|DMBT1_uc021qaf.1_Missense_Mutation_p.P39L|DMBT1_uc021qag.1_Missense_Mutation_p.P39L|DMBT1_uc021qah.1_Missense_Mutation_p.P39L|DMBT1_uc009xzz.1_Missense_Mutation_p.P39L|DMBT1_uc010qtx.1_Missense_Mutation_p.P39L|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	39					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGGAGGTGCCCTTGGATCCA	0.552000														17			15		0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152073	58152073	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:58152073C>T	uc001spx.2	+	2	1127	c.696C>T	c.(694-696)gtC>gtT	p.V232V	MARCH9_uc001spy.3_Silent_p.V119V	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	232						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCATGGATGTCGTCTGCATAG	0.527000														20			19		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:113676334C>T	uc002tij.3	+	4	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000														22			13		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171399473	171399473	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:171399473C>G	uc002ufy.3	+	30	3776	c.3633C>G	c.(3631-3633)aaC>aaG	p.N1211K	MYO3B_uc010fqb.1_Missense_Mutation_p.T1252R|MYO3B_uc002ufz.3_Missense_Mutation_p.N1184K|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.	1211					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						GACATGCAAACAAGGTAGCTG	0.403000														69			21		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102153921	102153921	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:102153921C>T	uc001tit.3	-	16	3328	c.3136_splice	c.e16-1	p.D1046_splice		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	1046					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTGTCAAATCCTAACAAAGA	0.323000														57			25		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966275	2966275	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:2966275G>A	uc021tns.1	-	0	627	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						ACCCTAAGGGGGTGAGGAAGA	0.488000														39			15		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90261313	90261313	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:90261313C>T	uc003kju.3	+	83	18034	c.17938C>T	c.(17938-17940)Ctg>Ttg	p.L5980L	GPR98_uc003kjt.3_Silent_p.L3686L|GPR98_uc003kjw.3_Silent_p.L1641L|GPR98_uc003kjx.3_Silent_p.L8L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5980					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)		CACACATTACCTGTATCTTTG	0.473000														37			20		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27297854	27297854	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27297854C>T	uc003xfn.2	+	25	2743	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	PTK2B_uc022ate.1_Silent_p.P645P|PTK2B_uc003xfp.2_Silent_p.P645P|PTK2B_uc003xfq.2_Silent_p.P645P|PTK2B_uc003xfr.1_Silent_p.P391P	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	645	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACCGGCTGCCCAAGCCTGATC	0.612000														46			35		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023635	167023635	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:167023635C>T	uc011bpc.2	-	16	1858	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	ZBBX_uc003feq.3_Silent_p.K478K|ZBBX_uc003fep.3_Silent_p.K507K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	507						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATTTTTCTCCTTTAAATTTC	0.338000														14			14		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707184	54707184	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:54707184C>T	uc021smr.1	+	16	4846	c.4846C>T	c.(4846-4848)Cct>Tct	p.P1616S	UNC13C_uc021sms.1_Missense_Mutation_p.P1618S|UNC13C_uc002acl.3_Missense_Mutation_p.P448S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1618					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTAGGTTTCCTCAAGAGCT	0.303000														22			13		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994678	11994678	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:11994678C>T	uc003wvc.1	-	1	1593	c.1593_splice	c.e1+1	p.*531_splice	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	0					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCACTGAGATCACTGGCACAC	0.557000														129			22		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110820132	110820132	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:110820132C>T	uc003kpf.3	+	10	1625	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	CAMK4_uc010jbv.3_Missense_Mutation_p.P267S|CAMK4_uc003kpg.3_Missense_Mutation_p.P155S	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	464					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTTGAAGTTCCACAGCAAGA	0.507000														20			14		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156304	155156304	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:155156304C>T	uc003inw.2	-	24	8135	c.8135G>A	c.(8134-8136)gGa>gAa	p.G2712E		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2712					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E2711K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCCTTGATCTCCTTCCCCAAA	0.527000														73			11		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472825	39472825	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:39472825C>T	uc003thb.2	+	7	1319	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	POU6F2_uc022acb.1_Silent_p.I392I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	392	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAACCAGATCCTGCCCGTGA	0.607000														43			16		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129470208	129470208	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:129470208G>A	uc021zfb.1	+	6	1099	c.994G>A	c.(994-996)Gct>Act	p.A332T	LAMA2_uc003qbn.3_Missense_Mutation_p.A332T|LAMA2_uc003qbo.3_Missense_Mutation_p.A332T	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	332	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCCTGGAGAGCTGGAACTTT	0.403000														42			21		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003822	228003822	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:228003822C>T	uc001hrh.3	+	1	180	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGGAAAATCCTGGGCGGCG	0.677000														116			17		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263098	52263098	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:52263098G>A	uc003ddd.3	-	8	1153	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	TLR9_uc003dda.2_5'Flank|TLR9_uc003ddb.3_Intron|TLR9_uc003ddc.1_Intron	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCGCTTATGGCCCCGCTTGC	0.667000														61			36		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101146	92101146	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:92101146C>T	uc010tif.2	+	1	661	c.295C>T	c.(295-297)Cta>Tta	p.L99L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	99						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTAAAGTTTCTAATATCTCG	0.438000														54			51		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832699	130832699	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:130832699C>T	uc010fmh.2	-	16	2746	c.2346G>A	c.(2344-2346)atG>atA	p.M782I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	782	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGATCTTCTCCATGTCATCCC	0.582000														58			42		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127855031	127855032	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:127855031_127855032CC>TT	uc003kuu.3	-	4	1001_1002	c.562_563GG>AA	c.(562-564)gga>AAa	p.G188K	FBN2_uc003kuv.2_Missense_Mutation_p.G155K|FBN2_uc003kuw.4_Missense_Mutation_p.G188K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	188	EGF-like 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGCAACGTCCACCATTCTGA	0.431000														9			8		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248398	55248398	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:55248398G>A	uc001sgk.3	+	0	100	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	11						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						GTACTCTTGGGAGTTTCCATC	0.433000														30			18		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922556	55922556	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55922556C>T	uc003pcs.3	-	29	3005	c.2773G>A	c.(2773-2775)Gga>Aga	p.G925R	COL21A1_uc010jzz.3_Missense_Mutation_p.G310R|COL21A1_uc011dxg.2_Missense_Mutation_p.G298R|COL21A1_uc011dxh.2_Missense_Mutation_p.G276R|COL21A1_uc003pcr.3_Missense_Mutation_p.G282R	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	925					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)			CCTTGGATTCCAGGTTTTCCA	0.512000														15			7		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676351	63676351	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:63676351C>T	uc001nxw.3	+	18	2588	c.2009C>T	c.(2008-2010)cCt>cTt	p.P670L	MARK2_uc001nxv.4_Missense_Mutation_p.P606L|MARK2_uc001nxx.3_Missense_Mutation_p.P601L|MARK2_uc001nxy.3_Missense_Mutation_p.P591L|MARK2_uc001nxz.4_Missense_Mutation_p.P627L|MARK2_uc009yoy.3_Missense_Mutation_p.P581L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	670					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCCACAGACCTCACGTGGTG	0.657000														15			4		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946087	50946087	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50946087A>C	uc009xog.3	-	17	2538	c.2504T>G	c.(2503-2505)cTc>cGc	p.L835R	OGDHL_uc001jie.3_Missense_Mutation_p.L808R|OGDHL_uc010qgt.2_Missense_Mutation_p.L751R|OGDHL_uc010qgu.2_Missense_Mutation_p.L599R	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	808					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						GCAGTCATAGAGCTGGCTCAC	0.617000														141			98		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931042	73931042	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:73931042T>G	uc003kdc.4	-	1	2400	c.1269A>C	c.(1267-1269)aaA>aaC	p.K423N	ENC1_uc011css.2_Missense_Mutation_p.K350N|ENC1_uc021yao.1_Missense_Mutation_p.K423N	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	423					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CCATGGTCCATTTGTTGATTG	0.547000														60			33		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464788	73464788	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:73464788G>A	uc001jrx.4	+	23	3238	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	CDH23_uc001jry.3_Missense_Mutation_p.E950K|CDH23_uc001jrz.3_Missense_Mutation_p.E950K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	952	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACCACCACCGAGCTGGACCG	0.667000														46			33		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732707	120732707	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:120732707C>T	uc001pxn.2	+	8	1071	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	GRIK4_uc009zav.1_Missense_Mutation_p.R262C|GRIK4_uc009zaw.1_Missense_Mutation_p.R262C|GRIK4_uc009zax.1_Missense_Mutation_p.R262C	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGTGGATGATCGTGTCAACAT	0.483000														85			77		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182412547	182412547	+	Splice_Site	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:182412547A>G	uc002unx.3	-	10	1338	c.1237_splice	c.e10+1	p.D413_splice	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Splice_Site_p.D387_splice|CERKL_uc010zfm.2_Splice_Site_p.D369_splice|CERKL_uc002unz.3_Splice_Site_p.D135_splice|CERKL_uc002uoa.3_Splice_Site_p.D318_splice|CERKL_uc002uob.3_Splice_Site_p.D135_splice|CERKL_uc002uoc.3_Splice_Site_p.D274_splice|CERKL_uc021vth.1_Splice_Site_p.D182_splice|CERKL_uc021vti.1_Splice_Site_p.D135_splice|CERKL_uc021vtj.1_Splice_Site_p.D90_splice|CERKL_uc021vtk.1_Splice_Site_p.D135_splice|CERKL_uc021vtl.1_Splice_Site_p.D90_splice|CERKL_uc021vtm.1_Splice_Site_p.D182_splice|CERKL_uc002uod.2_Splice_Site_p.D182_splice|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	413					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTTCGACTCACCAGATTTGG	0.408000														80			45		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:71571180C>T	uc021tkt.1	+	0	600	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_uc002fan.3_Silent_p.I200I|CHST4_uc002fao.3_Silent_p.I200I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	200					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000														48			9		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79095400	79095400	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:79095400C>T	uc003kgc.3	+	12	12243	c.12171C>T	c.(12169-12171)caC>caT	p.H4057H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	4057	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTACTTTGCACCTGGGGATAG	0.502000														20			5		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24429324	24429325	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:24429324_24429325CC>TT	uc003ned.1	-	24	2569_2570	c.2458_2459GG>AA	c.(2458-2460)gga>AAa	p.G820K		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	820						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGAACTCCTTCCAGCAGCAATG	0.490000														33			14		0	0	1	0	0
FBXO48	554251	broad.mit.edu	37	2	68691401	68691401	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:68691401G>A	uc002seo.3	-	3	816	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	136										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTGGGTACATGATTTTTTCTG	0.393000														75			62		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933708	209933708	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:209933708G>A	uc001hho.3	+	2	744	c.324G>A	c.(322-324)agG>agA	p.R108R	TRAF3IP3_uc001hhm.2_Silent_p.R108R|TRAF3IP3_uc001hhn.3_Intron|TRAF3IP3_uc009xcr.3_Silent_p.R108R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTGCCAGAAGGATTTCTTCTC	0.612000														9			10		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035885	56035885	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:56035885C>T	uc003pcs.3	-	3	914	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E228K|COL21A1_uc003pcu.1_Missense_Mutation_p.E228K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	228					cell adhesion	collagen|cytoplasm	structural molecule activity	p.D227E(1)|p.D227N(1)		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)			AATCCCCTTTCATCACGAGCT	0.313000														36			23		0	0	1	0	0
TMEM14A	28978	broad.mit.edu	37	6	52541912	52541912	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:52541912C>T	uc003pax.3	+	1	188	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_014051	NP_054770	Q9Y6G1	TM14A_HUMAN	Homo sapiens transmembrane protein 14A (TMEM14A), mRNA.	4						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					TGGACCTGATCGGTTTTGGTT	0.398000														96			46		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138575	56138575	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:56138575G>A	uc010qhy.1	-	4	695	c.300C>T	c.(298-300)ttC>ttT	p.F100F	PCDH15_uc010qhq.2_Silent_p.F100F|PCDH15_uc010qhr.2_Silent_p.F95F|PCDH15_uc021pqv.1_Silent_p.F95F|PCDH15_uc021pqw.1_Silent_p.F100F|PCDH15_uc010qht.2_Silent_p.F95F|PCDH15_uc021pqx.1_Silent_p.F95F|PCDH15_uc001jjv.1_Silent_p.F73F|PCDH15_uc021pqy.1_Silent_p.F95F|PCDH15_uc021pqz.1_Silent_p.F73F|PCDH15_uc010qhv.1_Silent_p.F95F|PCDH15_uc010qhw.1_Silent_p.F95F|PCDH15_uc010qhx.1_Silent_p.F95F|PCDH15_uc010qhz.1_Silent_p.F95F|PCDH15_uc010qia.1_Silent_p.F73F|PCDH15_uc001jju.1_Silent_p.F95F|PCDH15_uc010qib.1_Silent_p.F73F|PCDH15_uc001jjw.3_Silent_p.F95F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	95	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G100E(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGTTCAGGAAAAGCATTT	0.383000										HNSCC(58;0.16)				98			51		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810762	65810762	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:65810762G>A	uc001ogv.3	-	1	672	c.512C>T	c.(511-513)gCc>gTc	p.A171V	GAL3ST3_uc001ogw.3_Missense_Mutation_p.A171V	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	171					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCGCCGGAAGGCCGGGCAGTA	0.662000														21			10		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38603913	38603913	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38603913C>T	uc021wvo.1	-	20	4008	c.3956G>A	c.(3955-3957)gGc>gAc	p.G1319D	SCN5A_uc021wvk.1_Missense_Mutation_p.G1318D|SCN5A_uc021wvl.1_Missense_Mutation_p.G1265D|SCN5A_uc021wvm.1_Missense_Mutation_p.G1319D|SCN5A_uc021wvn.1_Missense_Mutation_p.G1318D|SCN5A_uc021wvp.1_Missense_Mutation_p.G1319D|SCN5A_uc021wvq.1_Missense_Mutation_p.G1318D|SCN5A_uc021wvr.1_Missense_Mutation_p.G1319D|SCN5A_uc021wvs.1_Missense_Mutation_p.G1319D|SCN5A_uc021wvt.1_Missense_Mutation_p.G1318D|SCN5A_uc021wvu.1_Missense_Mutation_p.G1265D|SCN5A_uc021wvv.1_Missense_Mutation_p.G1319D|SCN5A_uc021wvj.1_Missense_Mutation_p.G1131D|SCN5A_uc021wvi.1_Missense_Mutation_p.G1185D|SCN5A_uc021wvw.1_Missense_Mutation_p.G929D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1319			G -> V (in BRS1).		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)	TACCCTCATGCCCTCAAATCG	0.642000														7			8		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														30			23		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816315	26816315	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:26816315C>T	uc010wan.2	+	1	253	c.186C>T	c.(184-186)ttC>ttT	p.F62F	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Silent_p.F18F|SLC13A2_uc002hbh.3_Silent_p.F62F|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	62						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCCCTCTTCCCCTTAATCC	0.617000														36			23		0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11116706	11116706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:11116706G>A	uc001arz.1	-	3	581	c.490C>T	c.(490-492)Cag>Tag	p.Q164*		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	164					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	AAGGCATCCTGATTCTGTTTC	0.547000														30			14		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3149150	3149150	+	Silent	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:3149150T>C	uc002klp.3	-	12	2227	c.1893A>G	c.(1891-1893)gaA>gaG	p.E631E	MYOM1_uc002klq.3_Silent_p.E631E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	631						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCTGAAGGTTCCTCTTCAG	0.423000														22			15		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463970	247463970	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247463970G>A	uc009xgv.3	-	7	1760	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	ZNF496_uc001ico.3_Missense_Mutation_p.R539W	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	539					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H575H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCGGTGCCGAGCCAGGTGG	0.612000														95			20		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377761	19377761	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:19377761G>A	uc010tkp.2	+	0	168	c.168G>A	c.(166-168)ggG>ggA	p.G56G		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G56W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATAACAGGGAATGGAGCCA	0.403000														28			49		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81864681	81864681	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:81864681C>T	uc010tvu.2	-	0	244	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	STON2_uc001xvk.1_Missense_Mutation_p.V16I|STON2_uc010atc.1_Missense_Mutation_p.V16I	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	16					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGAAGGAGACCCATTCTGAC	0.488000														29			16		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809237	31809237	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:31809237G>A	uc001ivs.4	+	6	1037	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZEB1_uc001ivr.4_Missense_Mutation_p.R107Q|ZEB1_uc010qef.2_Missense_Mutation_p.R107Q|ZEB1_uc009xlj.1_Missense_Mutation_p.R251Q|ZEB1_uc010qeg.1_Missense_Mutation_p.R184Q|ZEB1_uc009xlk.1_Missense_Mutation_p.R107Q|ZEB1_uc001ivu.4_Missense_Mutation_p.R326Q|ZEB1_uc010qeh.2_Missense_Mutation_p.R258Q|ZEB1_uc001ivv.4_Missense_Mutation_p.R305Q|ZEB1_uc001ivt.4_Missense_Mutation_p.R107Q|ZEB1_uc009xlo.2_Missense_Mutation_p.R308Q|ZEB1_uc009xlp.3_Missense_Mutation_p.R309Q	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	325					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGTCCCACACGACCACAGATA	0.428000														36			18		0	0	1	0	0
CXCL14	9547	broad.mit.edu	37	5	134914202	134914202	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:134914202C>T	uc003lay.3	-	1	593	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_004887	NP_004878	O95715	CXL14_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 14 (CXCL14), mRNA.	43					cell-cell signaling|chemotaxis|immune response|signal transduction	Golgi apparatus|extracellular space	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATCTTGGGTCCCTTCCGGGA	0.597000														58			44		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274889	65274889	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:65274889C>T	uc003hcv.3	-	0	290	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TECRL_uc003hcw.3_Missense_Mutation_p.E61K	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	61					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATTTCAATCTCAAAGTGAGTC	0.328000														13			10		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658526	210658527	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:210658526_210658527CC>TT	uc010zjc.1	+	6	961_962	c.881_882CC>TT	c.(880-882)tcc>tTT	p.S294F	UNC80_uc021vvx.1_Missense_Mutation_p.S294F|UNC80_uc002vdj.1_Missense_Mutation_p.S294F	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	294						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGAGGAAACTCCTTTGATGGAA	0.495000														53			10		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101561919	101561919	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:101561919C>T	uc001thz.4	-	10	1665	c.1275G>A	c.(1273-1275)atG>atA	p.M425I		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	425					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGAACAGGCCCATAAGTGGTC	0.388000														4			9		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965093	42965093	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:42965093G>A	uc003gwt.3	+	1	570	c.569G>A	c.(568-570)cGa>cAa	p.R190Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	190	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAACGATGCCGACGAGTTTCT	0.428000														163			153		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160212	104160212	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:104160212G>A	uc001dut.3	+	0	214	c.150G>A	c.(148-150)aaG>aaA	p.K50K	AMY2A_uc010ouq.1_Silent_p.K50K	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	50					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	p.P49Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	TAGCTCCGAAGGGATTTGGAG	0.418000														94			114		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368892	26368892	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:26368892C>T	uc010jqh.2	+	3	444	c.185C>T	c.(184-186)aCc>aTc	p.T62I	BTN3A2_uc003nhp.3_Missense_Mutation_p.T62I|BTN3A2_uc011dkd.2_Missense_Mutation_p.T20I|BTN3A2_uc011dke.2_Missense_Mutation_p.T39I|BTN3A2_uc010jqi.2_Missense_Mutation_p.T62I	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	62	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGTGCAGAGACCATGGAGCTG	0.567000														91			44		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:48129705C>T	uc002xut.3	-	7	1172	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_uc010zyi.2_Missense_Mutation_p.R234Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	373					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602000														42			45		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535231	71535231	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:71535231G>A	uc002atb.1	+	3	787	c.708G>A	c.(706-708)caG>caA	p.Q236Q	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	236	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGACTGCAGGCTGCGGAGG	0.567000														49			11		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183676174	183676174	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:183676174G>A	uc003ivd.1	+	20	4729	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	ODZ3_uc003ive.1_Missense_Mutation_p.D965N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1552					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAATGACAATGATATTACTGC	0.408000														13			12		0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289622	46289622	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:46289622G>A	uc002pdj.1	-	2	1178	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	DMWD_uc021uwc.1_Silent_p.T31T|DMWD_uc010eko.1_Missense_Mutation_p.P63S	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	378				P -> SL (in Ref. 2; AAA35767).	meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGGTGTAGGGGTCAAAGGCC	0.677000														50			30		0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49019251	49019251	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:49019251C>T	uc010nin.1	+	0	71	c.24C>T	c.(22-24)gcC>gcT	p.A8A	MAGIX_uc004dmt.2_Silent_p.A8A|MAGIX_uc010nio.1_Silent_p.A8A|MAGIX_uc004dmu.2_5'Flank|MAGIX_uc004dmw.2_5'Flank	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	8								p.A8A(1)									CAGGGGGCGCCGCGAACCCTA	0.682000														3			7		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583469	119583470	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:119583469_119583470CC>TT	uc001txa.2	+	8	1443_1444	c.1055_1056CC>TT	c.(1054-1056)acc>aTT	p.T352I		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	352	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCTCCCCCACCAGCAGGGGCA	0.604000														13			12		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247237	97247237	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:97247237G>A	uc010kcl.3	-	2	849	c.371C>T	c.(370-372)gCt>gTt	p.A124V	GPR63_uc003pou.3_Missense_Mutation_p.A124V|GPR63_uc021zcy.1_Missense_Mutation_p.A124V	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	124						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCTGCAAAAGCTAGGCTGGC	0.438000														36			20		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540214	5540214	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:5540214G>A	uc003soo.2	-	2	1780	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	FBXL18_uc003son.4_Silent_p.S562S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	562									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCAGCGACAGGGACCGCAACT	0.642000														22			13		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14622740	14622740	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:14622740G>A	uc003ssz.3	-	16	1646	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	DGKB_uc011jxt.2_Missense_Mutation_p.P468S|DGKB_uc003sta.3_Missense_Mutation_p.P487S|DGKB_uc011jxu.2_Missense_Mutation_p.P486S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	487	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTGAAGTCAGGAACATCACGG	0.373000														14			8		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18154329	18154329	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:18154329G>A	uc002gsr.1	-	13	1650	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	FLII_uc002gsq.1_Silent_p.T404T|FLII_uc010vxn.1_Silent_p.T502T|FLII_uc010vxo.1_Silent_p.T478T|FLII_uc002gss.1_Silent_p.T532T	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	533	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATCCAGAAAGGTCTGGAAGC	0.607000														16			12		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891892	42891892	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:42891892G>A	uc010zwl.2	+	3	694	c.627G>A	c.(625-627)acG>acA	p.T209T	GDAP1L1_uc002xlp.1_Silent_p.T190T|GDAP1L1_uc002xlq.3_Silent_p.T190T|GDAP1L1_uc010zwm.2_Silent_p.T132T|GDAP1L1_uc010zwn.2_5'UTR	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	190	GST C-terminal.							p.T190T(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGCCACCACGGACCTCATGA	0.527000														169			135		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247302	19247302	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:19247302C>T	uc001mpm.3	-	10	2525	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.R668K	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	668					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTAAATCCTGTGGTTTGG	0.473000														58			56		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104227	1104227	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:1104227G>A	uc001lsx.1	+	50	8433	c.8406G>A	c.(8404-8406)cgG>cgA	p.R2802R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5168						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTCCCGCCGGGCCCGGCGCT	0.711000														21			8		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490387	58490387	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:58490387G>A	uc002qqw.3	-	6	2279	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V	ZNF606_uc010yhp.2_Missense_Mutation_p.A464V	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTACTAAGGGCTGAGTAGTC	0.408000														34			16		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124623763	124623763	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:124623763C>T	uc001qav.4	-	6	1125	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.A245T|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	318					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGCCGGAGGGCTCGTGCGGAG	0.652000														44			14		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862260	5862260	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5862260G>A	uc010qzq.2	-	0	868	c.868C>T	c.(868-870)Cct>Tct	p.P290S	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P289S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGATTACAGGATTGAGGGTG	0.413000														24			27		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241106	3241106	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:3241106G>A	uc004crg.4	-	4	2777	c.2620C>T	c.(2620-2622)Ctt>Ttt	p.L874F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	874						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)				GGTTCAACAAGAATAACTCCA	0.473000														12			30		0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552514	43552514	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43552514G>A	uc002ija.3	-	3	1045	c.875C>T	c.(874-876)tCa>tTa	p.S292L	PLEKHM1_uc010wjm.2_Missense_Mutation_p.S264L|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S241L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	292					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCCCAGGTCTGAGTCACAGGA	0.542000														27			20		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353851	172353851	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:172353851A>T	uc011bpx.2	-	3	722	c.584T>A	c.(583-585)tTt>tAt	p.F195Y	NCEH1_uc003fig.3_Missense_Mutation_p.F187Y|NCEH1_uc011bpw.2_Missense_Mutation_p.F22Y|NCEH1_uc011bpy.2_Missense_Mutation_p.F22Y	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	155					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTGCTCAGGAAAATAAACCTT	0.368000														57			39		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31904630	31904630	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:31904630G>A	uc003tcm.2	-	6	1137	c.676C>T	c.(676-678)Cct>Tct	p.P226S	PDE1C_uc003tcn.1_Missense_Mutation_p.P226S|PDE1C_uc003tco.2_Missense_Mutation_p.P286S|PDE1C_uc003tcr.3_Missense_Mutation_p.P226S|PDE1C_uc003tcs.3_Missense_Mutation_p.P226S	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	226	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATGGTAAGGATTTTTGTGC	0.448000														46			25		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48682525	48682525	+	Missense_Mutation	SNP	G	A	A	rs145413655	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:48682525G>A	uc003cuf.1	-	26	8206	c.8206C>T	c.(8206-8208)Cgc>Tgc	p.R2736C	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.R622C|CELSR3_uc003cul.3_Missense_Mutation_p.R2639C|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2639					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCGCCGCGGTCCACGTTG	0.647000														17			12		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854028	122854028	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:122854028G>A	uc003ieg.2	-	1	459	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	TRPC3_uc010inr.2_Missense_Mutation_p.R56C|TRPC3_uc003ief.2_Missense_Mutation_p.R56C|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	44					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCATCTTGCGCACCACTGGG	0.647000														42			8		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534223	6534224	+	Splice_Site	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:6534223_6534224GG>AA	uc001anp.1	-	8	1169	c.671_splice	c.e8-1	p.A224_splice	PLEKHG5_uc001ann.1_Splice_Site_p.A184_splice|PLEKHG5_uc001ano.1_Splice_Site_p.A203_splice|PLEKHG5_uc001anq.1_Splice_Site_p.A224_splice|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Splice_Site|PLEKHG5_uc010nzr.1_Splice_Site_p.A216_splice|PLEKHG5_uc001ank.1_Splice_Site_p.A147_splice|PLEKHG5_uc009vmb.1_Splice_Site_p.A147_splice|PLEKHG5_uc001anl.1_Splice_Site_p.A147_splice|PLEKHG5_uc001anm.1_Splice_Site_p.A147_splice	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	203					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTGGCTGGGGCTGCATGTGG	0.668000														17			15		0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439400	169439400	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:169439400C>T	uc001gge.4	-	2	1036	c.832G>A	c.(832-834)Gta>Ata	p.V278I	SLC19A2_uc001ggf.4_Missense_Mutation_p.V77I	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	278					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACTTTCAATACAAGGAGACGG	0.453000														41			9		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353847	57353847	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:57353847C>T	uc003xsz.2	-	1	869	c.788G>A	c.(787-789)gGa>gAa	p.G263E	PENK_uc003xta.3_Missense_Mutation_p.G263E	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	263					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCTCATAAATCCTCCGTATCT	0.478000														94			41		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660619	76660619	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:76660619C>T	uc003pik.1	-	12	1614	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	495					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATGTGAAATTCCCAGAGCCAG	0.502000														32			23		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103288526	103288526	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:103288526C>T	uc001tjq.1	-	2	812	c.339G>A	c.(337-339)aaG>aaA	p.K113K	PAH_uc010swc.1_Silent_p.K113K	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	113					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGTCTTTCTTCTTATCTCGTG	0.378000														45			21		0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349062	103349062	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:103349062G>A	uc022cbz.1	-	0	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F	SLC25A53_uc004elu.3_Silent_p.F293F	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	293					transport	integral to membrane|mitochondrial inner membrane											TCCTCTGCAGGAAGTCATGGA	0.532000														1			11		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865528	23865528	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:23865528G>A	uc001wjv.3	-	19	2465	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	798	IQ.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAATGCGCATGAGCTGGCCCC	0.572000														73			37		0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817436	38817436	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:38817436C>T	uc002oic.3	+	1	633	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	KCNK6_uc002oid.3_Silent_p.L42L	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	176						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTTGGTGGCCCTGTTGGGGGT	0.642000														84			38		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321090	129321090	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:129321090C>T	uc001qfc.4	+	3	683	c.633C>T	c.(631-633)tcC>tcT	p.S211S		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	211										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGAAGAACTCCATCCCCACAT	0.488000														24			25		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095150	130095150	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:130095150C>T	uc010htj.1	+	2	632	c.138C>T	c.(136-138)ttC>ttT	p.F46F	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	46	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTAAGTCATTCCCATTCGTGA	0.468000														24			12		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109356974	109356974	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:109356974C>T	uc002tem.4	+	6	938	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	271					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTGTGAAATCTTTGGGTGGA	0.348000														135			98		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921738	150921738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:150921738C>T	uc001evu.2	+	10	1598	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	SETDB1_uc009wmf.2_Nonsense_Mutation_p.Q470*|SETDB1_uc001evv.2_Nonsense_Mutation_p.Q470*|SETDB1_uc009wmg.2_Nonsense_Mutation_p.Q470*	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.P469P(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTATCCCCCCAAGCAGGTGA	0.488000														54			8		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39162578	39162578	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:39162578G>A	uc003cjc.2	+	8	1192	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TTC21A_uc011ayx.1_Missense_Mutation_p.E290K|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	339							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGGCCACAGAACTGGGCTA	0.512000														49			28		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	T	T	rs138402445		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55377343C>T	uc002qhl.4	+	6	1147	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL2_uc002qho.4_Missense_Mutation_p.R362C|KIR3DL2_uc010esh.3_Missense_Mutation_p.R345C			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000														28			14		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967443	46967443	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:46967443C>T	uc001jea.3	-	3	787	c.634G>A	c.(634-636)Gag>Aag	p.E212K	SYT15_uc001jdz.2_Missense_Mutation_p.E212K|SYT15_uc001jeb.3_Missense_Mutation_p.E90K|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	212	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						ATGAAGTGCTCGTCAAACTGC	0.607000														99			20		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49722464	49722464	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:49722464G>C	uc003cxg.3	-	13	1675	c.1603C>G	c.(1603-1605)Cgg>Ggg	p.R535G		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	521	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R521G(2)|p.E535fs*57(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCACTGCCGGGCAGTCAGT	0.592000														15			3		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633000	143633000	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:143633000C>T	uc011ktv.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTCCACCATCCTAAAGATCC	0.507000														45			32		0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36091701	36091701	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:36091701C>T	uc002hok.4	-	3	1151	c.930G>A	c.(928-930)cgG>cgA	p.R310R	HNF1B_uc021tvu.1_Silent_p.R80R|HNF1B_uc010wdi.2_Silent_p.R284R|HNF1B_uc021tvv.1_Silent_p.R310R|HNF1B_uc021tvw.1_Silent_p.R284R|HNF1B_uc010cve.1_Silent_p.R118R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	310					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCAGCTTTTGCCGGAATGCCT	0.622000														48			30		0	0	1	0	0
GREM1	26585	broad.mit.edu	37	15	33023231	33023231	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:33023231A>C	uc001zhe.2	+	1	499	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	GREM1_uc010uby.2_Missense_Mutation_p.I73L|GREM1_uc001zhd.2_Missense_Mutation_p.I44L|GREM1_uc021sio.1_Missense_Mutation_p.I114L	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	114	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TCGCACCATCATCAACCGCTT	0.552000														21			26		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995504	53995504	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:53995504G>A	uc001cvr.1	-	3	1484	c.917C>T	c.(916-918)tCc>tTc	p.S306F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	306					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCGGTCGCTGGAGTTGCTGAA	0.652000														33			53		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7809173	7809173	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:7809173G>A	uc002gjd.2	+	28	4404	c.4402_splice	c.e28-1	p.V1468_splice	CHD3_uc002gje.2_Splice_Site_p.V1409_splice|CHD3_uc002gjf.2_Splice_Site_p.V1409_splice|CHD3_uc002gjh.2_Splice_Site|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1409					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCACCCTCAGGTGCTGGGCT	0.567000														93			47		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21459918	21459918	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:21459918C>T	uc001rer.3	-	3	591	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.E114K|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR|SLCO1A2_uc001ret.3_Missense_Mutation_p.E112K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E94K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	114					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GATTCATATTCATATCTGTAT	0.378000														14			14		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43930670	43930670	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:43930670C>T	uc003bdy.2	-	29	4445	c.4131G>A	c.(4129-4131)ggG>ggA	p.G1377G	EFCAB6_uc003bdz.2_Silent_p.G1225G|EFCAB6_uc010gzi.2_Silent_p.G1225G	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1377	EF-hand 15.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGCAAATTTCCCGTTGCTCT	0.418000														48			29		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24187543G>A	uc003xdy.3	+	10	1101	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADAM28_uc003xdx.3_Missense_Mutation_p.E340K|ADAM28_uc011kzz.2_Missense_Mutation_p.E107K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E27K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	340	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGCACATGAAATGGGCCA	0.408000														58			41		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784310	82784310	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:82784310G>A	uc003uhx.2	-	1	1936	c.1647C>T	c.(1645-1647)ccC>ccT	p.P549P	PCLO_uc003uhv.2_Silent_p.P549P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	495	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGAGCCGAGGGCTTTGCTG	0.532000														237			100		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815211	147815211	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:147815211G>A	uc003weu.2	+	16	2900	c.2384_splice	c.e16-1	p.R795_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	795	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCCACAGGGAATTATTGGA	0.418000										HNSCC(39;0.1)				80			30		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100510842	100510842	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:100510842G>A	uc011cej.2	+	3	530	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	MTTP_uc003hvc.4_Missense_Mutation_p.E146K	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	146	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGTGGCCATAGAAAATATCAA	0.403000														45			5		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61956812	61956812	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:61956812G>A	uc011aau.2	+	27	3414	c.3314G>A	c.(3313-3315)gGa>gAa	p.G1105E	COL20A1_uc011aav.2_Missense_Mutation_p.G926E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1105	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGGTCAAAGGAGAGAAGGGA	0.657000														23			21		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38288848	38288848	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:38288848C>T	uc003tfu.3	-	1	376	c.141G>A	c.(139-141)aaG>aaA	p.K47K	ARPP21_uc022aby.1_Intron|ARPP21_uc003tfv.3_Silent_p.K47K|ARPP21_uc003tfw.3_Non-coding_Transcript|ARPP21_uc003tfx.1_Non-coding_Transcript|ARPP21_uc022abz.1_Non-coding_Transcript|ARPP21_uc003tfz.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	RecName: Full=T-cell receptor gamma-2 chain C region; AltName: Full=T-cell receptor gamma chain C region PT-gamma-1/2;	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACATACCTGTCTTTATTGGAG	0.338000														16			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776715	13776715	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:13776715T>C	uc003jfd.2	-	54	9248	c.9206A>G	c.(9205-9207)aAc>aGc	p.N3069S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3069	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)					GTCGTGCAGGTTCTCATTGGT	0.453000									Kartagener syndrome					65			27		0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262806	69262806	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:69262806C>T	uc021rve.1	-	0	155	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	ZFP36L1_uc001xki.2_5'Flank|ZFP36L1_uc001xkh.2_5'Flank|C14orf181_uc021rvf.1_Missense_Mutation_p.G69E	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACTGCCGCTTCCGACCGGGAG	0.751000														13			8		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66898938	66898938	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:66898938C>T	uc002jhq.3	-	20	3020	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	ABCA8_uc002jhp.3_Missense_Mutation_p.E854K|ABCA8_uc010wqq.2_Missense_Mutation_p.E894K|ABCA8_uc010wqr.2_Missense_Mutation_p.E833K|ABCA8_uc002jhr.3_Missense_Mutation_p.E894K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	854						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAGAAAGTTCCCAGGTGTAA	0.383000														51			27		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805390	54805390	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54805390C>T	uc003pck.3	+	4	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		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)					TTCTCGGCTTCGTTCCTCTTT	0.418000														31			18		0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101730087	101730087	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:101730087G>A	uc003yjs.1	-	2	921	c.417C>T	c.(415-417)ggC>ggT	p.G139G	PABPC1_uc011lhc.1_Silent_p.G107G|PABPC1_uc011lhd.1_Silent_p.G94G|PABPC1_uc003yjt.1_Silent_p.G139G|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	139	RRM 2.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAAATCCATAGCCCTTGGAAC	0.348000														39			24		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952861	54952861	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:54952861G>A	uc003dhl.3	-	2	797	c.663C>T	c.(661-663)ctC>ctT	p.L221L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	221	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGATCCTAAGGAGGTCCTTTC	0.532000														18			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768860	140768860	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140768860C>T	uc003lkc.2	+	0	1409	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	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_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCTATTTCACAAGTCAGG	0.547000														65			36		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301619	113301619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:113301619C>T	uc003ynu.3	-	56	9282	c.9123G>A	c.(9121-9123)tgG>tgA	p.W3041*	CSMD3_uc003yns.3_Nonsense_Mutation_p.W2243*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W3001*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W2872*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3041	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGATCCACTCCAATGGCCAT	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				48			28		0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35819162	35819162	+	Silent	SNP	C	T	T	rs139143749	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:35819162C>T	uc001iyw.4	+	6	750	c.570C>T	c.(568-570)atC>atT	p.I190I	CCNY_uc001iyu.4_Silent_p.I136I|CCNY_uc001iyv.4_Silent_p.I136I|CCNY_uc001iyx.4_Silent_p.I136I|CCNY_uc009xmb.3_Silent_p.I165I|CCNY_uc010qet.2_Silent_p.I57I	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	190	Cyclin N-terminal.			I -> V (in Ref. 5; BAB71409).	G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						AATGTGCCATCGTCACCCTGG	0.582000														19			16		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661843	54661843	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:54661843C>T	uc003dhf.3	+	9	1041	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.F237F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.F65F	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	331	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F331F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAAACTTTTCGCCAAAGGAA	0.413000														16			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963163	106963163	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:106963163G>A	uc021ser.1	-	268		c.10567C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAC	0.577000														59			34		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023024	76023024	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:76023024C>T	uc010kbe.3	-	5	3063	c.2533G>A	c.(2533-2535)Gga>Aga	p.G845R	FILIP1_uc003phy.1_Missense_Mutation_p.G842R|FILIP1_uc003phz.3_Missense_Mutation_p.G743R|FILIP1_uc003pia.3_Missense_Mutation_p.G842R|FILIP1_uc003pib.1_Missense_Mutation_p.G594R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	842										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTTCAATCCCACCTGCCGA	0.448000														145			52		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911151	43911152	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43911151_43911152CC>TT	uc010dap.3	+	11	1353_1354	c.1088_1089CC>TT	c.(1087-1089)ccc>cTT	p.P363L	CRHR1_uc010wjx.2_Missense_Mutation_p.P159L|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Missense_Mutation_p.P334L|CRHR1_uc002ijn.3_Missense_Mutation_p.P294L|CRHR1_uc010dar.3_Missense_Mutation_p.P334L|CRHR1_uc010dao.3_Missense_Mutation_p.P233L|CRHR1_uc010daq.3_Missense_Mutation_p.P159L|CRHR1_uc021tyu.1_Missense_Mutation_p.P159L	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	363					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCGTCAATCCCGGGGAGGATG	0.609000														65			38		0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106761806	106761806	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:106761806G>A	uc002tdm.3	-	5	395	c.297C>T	c.(295-297)ttC>ttT	p.F99F	UXS1_uc002tdn.3_Silent_p.F104F|UXS1_uc002tdo.3_Silent_p.F42F|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	99					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GGGAGCCCACGAACCCTGCGC	0.552000														21			3		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416132	105416132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:105416132G>A	uc010axc.1	-	6	5776	c.5656C>T	c.(5656-5658)Caa>Taa	p.Q1886*	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q1786*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1886						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)			ATGTCCACTTGGCCAGCCTGG	0.632000														128			83		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73040680	73040680	+	RNA	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73040680C>T	uc004ebn.2	+	0		c.28641C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CAAGAGTCTTCCATTTATCTT	0.358000														6			16		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473146	2473146	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:2473146C>T	uc003smc.3	+	1	1035	c.872C>T	c.(871-873)gCc>gTc	p.A291V	CHST12_uc003smd.3_Missense_Mutation_p.A291V|CHST12_uc021zyu.1_Missense_Mutation_p.A291V|CHST12_uc021zyv.1_Missense_Mutation_p.A291V	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	291					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGCGCGAGGCCTTCCGCGCT	0.652000														55			36		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160571	132160571	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:132160571G>A	uc011mvf.2	-	0	1730	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	USP26_uc010nrm.1_Missense_Mutation_p.P560S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	560					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L559P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTCAAGGGAAGAGGTGGT	0.378000														9			37		0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40222086	40222086	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:40222086C>T	uc002omh.3	-	3	440	c.363G>A	c.(361-363)gtG>gtA	p.V121V		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	121	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	p.A120S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GCACCATCTTCACAGCCTCAG	0.408000														124			84		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105847415	105847415	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:105847415C>T	uc001yqu.3	+	11	1751	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	PACS2_uc001yqs.2_Missense_Mutation_p.S341F|PACS2_uc001yqt.3_Missense_Mutation_p.S416F|PACS2_uc001yqv.3_Missense_Mutation_p.S416F	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	416					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AAGACAGAGTCCCTTGTCATC	0.697000														23			8		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420310	43420310	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43420310C>T	uc002ovj.1	-	1	493	c.394G>A	c.(394-396)Gga>Aga	p.G132R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.G132R	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	133	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAGTTACTCCTCCAGTCCCA	0.483000														143			73		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144384	44144384	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:44144384G>A	uc003owt.1	+	9	1106	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	CAPN11_uc011dvn.2_Silent_p.G10G	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	356	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G356V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGGAGGACGGGGAGTTCTGGT	0.627000														44			29		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079940	29079940	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:29079940G>A	uc011dll.2	+	0	273	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P91P(2)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTGGGGCCCGGAAAAGACCA	0.483000														118			57		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155209783	155209784	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:155209783_155209784GG>AA	uc001fjh.3	-	2	366_367	c.200_201CC>TT	c.(199-201)ccc>cTT	p.P67L	GBA_uc021pau.1_5'Flank|GBA_uc010pfx.2_Missense_Mutation_p.P67L|GBA_uc010pfw.2_Intron|GBA_uc001fjl.3_Missense_Mutation_p.P67L|GBA_uc001fjk.3_Missense_Mutation_p.P67L|GBA_uc010pfy.2_5'UTR|GBA_uc009wqk.2_Intron	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	67					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GAAAGGTCGGGGGGTCAAAGGA	0.599000									Gaucher disease type I					35			30		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47122410	47122410	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47122410C>T	uc002iom.3	+	11	1712	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	IGF2BP1_uc010dbj.3_Missense_Mutation_p.P321S	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	460	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CACTGGACCGCCAGAGGCCCA	0.463000														65			45		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070709	9070709	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9070709G>A	uc002mkp.3	-	2	16941	c.16737C>T	c.(16735-16737)atC>atT	p.I5579I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5581	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G5578S(1)		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						CCCAGGGAAGGATACCCTGTG	0.507000														137			75		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947797	14947797	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:14947797C>T	uc002dcv.3	+	8	943	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	293						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTTCCAGATTCCGTTCTATCG	0.438000														76			25		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837346	81837346	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:81837346C>T	uc010tvu.2	-	2	755	c.557G>A	c.(556-558)gGg>gAg	p.G186E	STON2_uc001xvk.1_Missense_Mutation_p.G186E	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	186					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAGTCAGCCCCAGAAGCCTG	0.488000														67			37		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805809	31805809	+	Silent	SNP	G	A	A	rs61748133		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:31805809G>A	uc002rnw.1	-	1	230	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	54					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCTCCTGCAGGAACCAGGCGG	0.711000														15			9		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773380	101773380	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:101773380T>G	uc001pgl.3	-	5	1108	c.512A>C	c.(511-513)cAc>cCc	p.H171P		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	171	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCCTTCTGGGTGAATTATGTA	0.353000														42			22		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713392	70713392	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:70713392C>T	uc010ttg.2	-	0	1127	c.476G>A	c.(475-477)gGa>gAa	p.G159E						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CCAGGTATCTCCTTGAAAATT	0.403000														124			54		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78295652	78295652	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:78295652G>A	uc002bcy.4	-	10	2569	c.2569C>T	c.(2569-2571)Cca>Tca	p.P857S	TBC1D2B_uc010bla.3_Missense_Mutation_p.P857S|TBC1D2B_uc002bda.3_Missense_Mutation_p.P309S	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	857						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCACCTTTGGTCCTTCATAA	0.453000														57			14		0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146572221	146572221	+	Silent	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:146572221T>G	uc003ikh.4	+	4	826	c.741T>G	c.(739-741)ggT>ggG	p.G247G	MMAA_uc010iow.3_Intron	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	247						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGTGTGGGTCAGTCGGAGT	0.378000														23			8		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173339772	173339772	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:173339772C>T	uc002uhp.1	+	6	1305	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	ITGA6_uc010fqk.1_Missense_Mutation_p.R254C|ITGA6_uc010zdy.1_Missense_Mutation_p.R249C|ITGA6_uc002uho.1_Missense_Mutation_p.R368C|ITGA6_uc010fqm.1_Missense_Mutation_p.R14C	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	407					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)			GAAGCCAATTCGTCTTAATGG	0.378000														31			6		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53611302	53611302	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:53611302T>C	uc004dsp.3	-	40	5407	c.5005A>G	c.(5005-5007)Aat>Gat	p.N1669D	HUWE1_uc004dsn.3_Missense_Mutation_p.N494D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1669	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTTTCCTCATTAACCTAGGAA	0.433000														10			18		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40864381	40864381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:40864381G>A	uc010wgu.2	-	10	1381	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	EZH1_uc002iaz.3_Nonsense_Mutation_p.R443*|EZH1_uc002iba.3_Nonsense_Mutation_p.R434*|EZH1_uc010wgt.2_Nonsense_Mutation_p.R373*|EZH1_uc010wgv.2_Nonsense_Mutation_p.R403*|EZH1_uc010wgw.2_Nonsense_Mutation_p.R304*|EZH1_uc010cyp.2_Nonsense_Mutation_p.R344*|EZH1_uc010cyq.2_Nonsense_Mutation_p.R360*|EZH1_uc010cyo.1_Nonsense_Mutation_p.R106*|EZH1_uc010cyr.1_Nonsense_Mutation_p.R95*	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	443					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	p.R443*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGGAAGACTCGAAAAAGAGAT	0.522000														71			32		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201297899	201297899	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:201297899G>A	uc001gwd.3	+	13	2430	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	PKP1_uc001gwe.3_Missense_Mutation_p.D706N|PKP1_uc009wzm.3_Missense_Mutation_p.D314N	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	727					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	p.D706N(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCAAGGTTTCGATAGGAACAT	0.527000														108			30		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:147092834C>T	uc003weu.2	+	9	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(2)		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)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)				80			45		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005444	72005444	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:72005444G>A	uc001osj.3	-	14	1745	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	CLPB_uc010rqx.2_Silent_p.I520I|CLPB_uc010rqy.2_Silent_p.I506I|CLPB_uc001osk.3_Silent_p.I535I|CLPB_uc010rqz.2_Silent_p.I364I|CLPB_uc001osi.3_Silent_p.I173I	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	565					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGAAGTAGACGATCTCATTGA	0.557000														35			7		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523975	38523975	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38523975C>T	uc003cif.3	+	9	1292	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	ACVR2B_uc003cig.3_Missense_Mutation_p.S214L	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	423	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CAGCACCCTTCGTTGGAGGAG	0.552000														24			5		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3732016	3732016	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:3732016G>A	uc001aky.2	-	21	3087	c.2728C>T	c.(2728-2730)Ccg>Tcg	p.P910S	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	910						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCGCCCTTCGGGGTGGGGATC	0.647000														15			4		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119145743	119145743	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:119145743A>G	uc003ibx.3	+	6	2040	c.1637A>G	c.(1636-1638)aAc>aGc	p.N546S	NDST3_uc011cgf.1_Missense_Mutation_p.N465S	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	546	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.N546S(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGCTGGACCAACCTGCGACTT	0.433000														57			12		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923851	158923851	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:158923851C>T	uc003qrf.3	+	12	4513	c.3156C>T	c.(3154-3156)tcC>tcT	p.S1052S	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1052					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCGGAGCCTCCCTGGCCCATA	0.711000														24			8		0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8387731	8387731	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:8387731C>T	uc010dwa.3	-	10	2524	c.2458G>A	c.(2458-2460)Gtt>Att	p.V820I	NDUFA7_uc002mjm.2_5'Flank	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	0										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCTTACTGAACCTGGGGGTTC	0.607000														17			11		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700682	55700683	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55700682_55700683GA>AG	uc010qhy.1	-	24	3585_3586	c.3190_3191TC>CT	c.(3190-3192)tct>CTt	p.S1064L	PCDH15_uc010qhq.2_Missense_Mutation_p.S1064L|PCDH15_uc010qhr.2_Missense_Mutation_p.S1059L|PCDH15_uc021pqv.1_Missense_Mutation_p.S1059L|PCDH15_uc021pqw.1_Missense_Mutation_p.S1071L|PCDH15_uc010qht.2_Missense_Mutation_p.S1066L|PCDH15_uc021pqx.1_Missense_Mutation_p.S1059L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1059L|PCDH15_uc021pqz.1_Missense_Mutation_p.S1037L|PCDH15_uc010qhv.1_Missense_Mutation_p.S1059L|PCDH15_uc010qhw.1_Missense_Mutation_p.S1022L|PCDH15_uc010qhx.1_Missense_Mutation_p.S988L|PCDH15_uc010qhz.1_Missense_Mutation_p.S1059L|PCDH15_uc010qia.1_Missense_Mutation_p.S1037L|PCDH15_uc001jju.1_Missense_Mutation_p.S1059L|PCDH15_uc010qib.1_Missense_Mutation_p.S1037L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1059	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAGCAGCAGAAATTACACCA	0.371000										HNSCC(58;0.16)				31			20		0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17602838	17602838	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:17602838C>T	uc003ncc.3	+	1	853	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	244	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATATGTTATTCCATCCTTGGC	0.348000														30			24		0	0	1	0	0
RAPSN	5913	broad.mit.edu	37	11	47469700	47469700	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:47469700G>A	uc001nfi.2	-	1	409	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RAPSN_uc001nfj.2_Silent_p.F65F|RAPSN_uc009yls.1_Silent_p.F65F	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 1, mRNA.	65					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGACCACAGCGAACTGCACAC	0.647000														10			12		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126040941	126040941	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:126040941A>C	uc003yrt.3	-	27	3673	c.3344T>G	c.(3343-3345)aTa>aGa	p.I1115R	KIAA0196_uc011lir.2_Missense_Mutation_p.I967R	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1115					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AATTTCAGGTATCTTCTGGCT	0.413000														28			12		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168348608	168348608	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:168348608G>A	uc021zik.1	+	26	3804	c.3485G>A	c.(3484-3486)gGa>gAa	p.G1162E	MLLT4_uc003qwb.1_Missense_Mutation_p.G1187E|MLLT4_uc003qwc.2_Missense_Mutation_p.G1203E|MLLT4_uc021zij.1_Missense_Mutation_p.G1186E|MLLT4_uc021zim.1_Missense_Mutation_p.G749E|MLLT4_uc003qwg.1_Missense_Mutation_p.G512E	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1203					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GTCTCTACTGGAAACCTCTGC	0.448000			T	MLL	AL									30			21		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21417145	21417145	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:21417145G>A	uc001unq.4	-	5	652	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	XPO4_uc010tcr.1_Silent_p.L132L	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	206					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTCCTGCAGAACTTCAACA	0.383000														24			9		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891401	173891401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:173891401G>A	uc002uhv.4	+	23	2542	c.2355G>A	c.(2353-2355)tgG>tgA	p.W785*	RAPGEF4_uc002uhw.4_Nonsense_Mutation_p.W641*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	785	Ras-GEF.				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	p.W785L(1)		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)			TTTATGATTGGGAACTCTTCA	0.438000														31			21		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16900017	16900017	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:16900017C>T	uc003goz.3	-	0	408	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LDB2_uc003gpa.3_Missense_Mutation_p.R31Q|LDB2_uc011bxh.2_Missense_Mutation_p.R31Q|LDB2_uc003gpb.3_Missense_Mutation_p.R31Q|LDB2_uc010iee.3_Missense_Mutation_p.R31Q	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	31							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTCATAGATTCGGTACTCTGG	0.453000														46			16		0	0	1	0	0
ZNF821	55565	broad.mit.edu	37	16	71898050	71898050	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:71898050G>C	uc010vmj.2	-	4	816	c.408C>G	c.(406-408)caC>caG	p.H136Q	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_5'UTR|ZNF821_uc002fbf.3_Missense_Mutation_p.H94Q|ZNF821_uc021tlb.1_Missense_Mutation_p.H136Q|ZNF821_uc021tlc.1_Missense_Mutation_p.H136Q|ZNF821_uc002fbh.4_Missense_Mutation_p.H94Q|ZNF821_uc002fbg.4_5'UTR	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCTGGTACACGTGAGCAATCA	0.562000														84			27		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711082	11711082	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:11711082G>A	uc002gne.3	+	43	8522	c.8454G>A	c.(8452-8454)cgG>cgA	p.R2818R	DNAH9_uc010coo.3_Silent_p.R2112R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2818	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCCCCGCGGGGAAATGCTC	0.517000														50			28		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668485	53668485	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:53668485G>A	uc010eqm.1	-	3	1358	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K419K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTCTTCGATGATTTGCTAAG	0.403000														34			22		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841807	70841807	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:70841807G>A	uc002ezr.3	-	85	15190	c.15039C>T	c.(15037-15039)atC>atT	p.I5013I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5014										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGGGGGATGATATACTCTC	0.547000														63			28		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97607246	97607246	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:97607246G>A	uc010qoj.2	+	6	956	c.893G>A	c.(892-894)gGa>gAa	p.G298E	ENTPD1_uc001kli.4_Missense_Mutation_p.G293E|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.G178E|ENTPD1_uc010qol.2_Missense_Mutation_p.G178E|ENTPD1_uc001klh.4_Missense_Mutation_p.G286E|ENTPD1_uc010qom.2_Intron|ENTPD1_uc010qon.2_Missense_Mutation_p.G148E|ENTPD1_uc009xva.3_Missense_Mutation_p.G148E	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	286					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTTCATCCTGGATATAAGAAG	0.413000														28			33		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037375	80037375	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:80037375G>A	uc002kdu.3	-	41	7373	c.7256C>T	c.(7255-7257)gCg>gTg	p.A2419V	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2419	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACCGGGCCGCAAAGCTCAG	0.647000														51			24		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247081569	247081569	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247081569C>T	uc001ibv.2	-	1	228	c.131G>A	c.(130-132)cGt>cAt	p.R44H		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	35	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACTTTCCACGAAGCACAGA	0.343000														40			5		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221621	55221621	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55221621G>A	uc002qgs.1	+	0		c.2021G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GACCCCCTGAGCATCCTGATC	0.667000														52			6		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61865798	61865798	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:61865798G>A	uc001jky.3	-	27	3531	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S	ANK3_uc001jkw.3_Missense_Mutation_p.P199S|ANK3_uc009xpa.3_Missense_Mutation_p.P199S|ANK3_uc001jkx.3_Missense_Mutation_p.P243S|ANK3_uc010qih.2_Missense_Mutation_p.P1066S|ANK3_uc001jkz.4_Missense_Mutation_p.P1059S|ANK3_uc001jla.1_Missense_Mutation_p.P131S|ANK3_uc001jlb.1_Missense_Mutation_p.P583S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1065	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAAAGTGAGGGATTTCCACT	0.338000														25			9		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016443	22016443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:22016443G>A	uc010tzk.1	-	0	436	c.274C>T	c.(274-276)Cag>Tag	p.Q92*						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		ACTTTGCACTGATCTGTGCCA	0.398000														45			5		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102979140	102979140	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:102979140C>T	uc002tbw.4	+	1	170	c.20C>T	c.(19-21)cCc>cTc	p.P7L	IL18R1_uc010ywb.1_Missense_Mutation_p.P7L|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Missense_Mutation_p.P7L|IL18R1_uc010ywc.2_Missense_Mutation_p.P7L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	7					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGAGAATTACCCTTGACCCTT	0.368000														81			20		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758401	5758401	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5758401G>A	uc001mbt.2	+	0	724	c.655G>A	c.(655-657)Gat>Aat	p.D219N	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AATGGGGAGTGATCTAAGTCT	0.478000														40			13		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411211	5411211	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5411211G>A	uc010qzc.2	+	0	605	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	195						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCACCAGGAAGTGATACA	0.517000														56			48		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29678492	29678492	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:29678492C>G	uc003aet.3	+	5	855	c.527C>G	c.(526-528)cCt>cGt	p.P176R	EWSR1_uc003aes.4_Missense_Mutation_p.P176R|EWSR1_uc003aev.3_Missense_Mutation_p.P182R|EWSR1_uc003aex.3_Missense_Mutation_p.P176R|EWSR1_uc003aew.3_Intron|EWSR1_uc003aey.3_5'UTR	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	176	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCAGGTACCTGGGAGCTAC	0.498000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									32			24		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164704944	164704944	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:164704944C>T	uc003fei.3	-	44	5242	c.5179G>A	c.(5179-5181)Gat>Aat	p.D1727N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1727	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTCCATCATCCCAAAACAGA	0.333000										HNSCC(35;0.089)				65			28		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508064	26508064	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:26508064G>A	uc001isp.2	+	3	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_uc009xkr.3_Missense_Mutation_p.D127N|GAD2_uc001isq.2_Missense_Mutation_p.D127N	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	127					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAAAGTTTCGATAGATCAAC	0.393000														44			27		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091798	30091798	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:30091798C>A	uc001uso.3	-	9	1809	c.1422G>T	c.(1420-1422)atG>atT	p.M474I		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	474					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAAAGAGAACATCTCTGCCT	0.458000														118			52		1.11015e-26	1.12317e-26	1	1	0
BUB1	699	broad.mit.edu	37	2	111406903	111406903	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:111406903G>A	uc002tgc.3	-	18	2367	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	BUB1_uc010yxh.2_Missense_Mutation_p.S732F|BUB1_uc010fkb.3_Missense_Mutation_p.S752F	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	752					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGAAAGCCCAGATAAAAGTTT	0.353000														42			38		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906495	12906495	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:12906495G>A	uc004cvc.3	+	2	3007	c.2868G>A	c.(2866-2868)gtG>gtA	p.V956V		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	956	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAGTGTTTGTGATGACAGACA	0.383000														40			89		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47951087	47951087	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:47951087T>A	uc010ele.3	-	2	1758	c.1742A>T	c.(1741-1743)gAg>gTg	p.E581V	SLC8A2_uc002pgx.3_Missense_Mutation_p.E581V|SLC8A2_uc010xyq.2_Missense_Mutation_p.E337V|SLC8A2_uc010xyr.2_Missense_Mutation_p.E44V			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	581	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTCGCCAAACTCCAGCTCTCC	0.746000														10			5		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357355	36357355	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:36357355C>T	uc002ocb.4	+	14	2300	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Silent_p.F658F|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	696	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCTGCCTTCCCCACACCTA	0.567000														92			57		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284543	27284543	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:27284543C>T	uc002hdp.2	-	11	2511	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.D773N|SEZ6_uc002hdq.1_Missense_Mutation_p.D648N	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	773	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCTCCAGGATCGTGGCAGGAA	0.562000														21			13		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188772	103188772	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:103188772A>T	uc003hwb.1	-	6	1637	c.1108T>A	c.(1108-1110)Ttc>Atc	p.F370I	SLC39A8_uc011ceo.1_Missense_Mutation_p.F370I|SLC39A8_uc003hwa.1_Missense_Mutation_p.F303I|SLC39A8_uc003hwc.2_Missense_Mutation_p.F370I	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	370						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GCAGAAAGGAAGTTGAATAGC	0.403000														35			41		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239192	170239192	+	Missense_Mutation	SNP	C	T	T	rs144038090	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:170239192C>T	uc003mau.3	+	9	1451	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	418						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATCACTATTCCAAACTACTG	0.353000														12			19		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239907	96239907	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:96239907G>A	uc001vmk.3	-	19	2956	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	DZIP1_uc001vmj.3_Missense_Mutation_p.P178S|DZIP1_uc001vml.3_Missense_Mutation_p.P683S	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	702					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGCGGCACAGGAAGTGGGCCT	0.562000														53			21		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847480	123847480	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:123847480T>G	uc001pzm.1	-	0	919	c.919A>C	c.(919-921)Aag>Cag	p.K307Q		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCACCTCCTTGTTCCGCAAA	0.532000														46			46		0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54675647	54675647	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:54675647C>T	uc010erf.3	-	1	435	c.303G>A	c.(301-303)cgG>cgA	p.R101R	TMC4_uc002qdo.3_Silent_p.R95R	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	101						integral to membrane		p.R100I(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCTGTGTGCCCGTCTGGCCT	0.662000														38			25		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588542	247588542	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247588542G>A	uc001icr.3	+	4	1935	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	NLRP3_uc001ics.3_Silent_p.K599K|NLRP3_uc001icu.3_Silent_p.K599K|NLRP3_uc001icw.3_Silent_p.K599K|NLRP3_uc001icv.3_Silent_p.K599K|NLRP3_uc010pyw.2_Silent_p.K597K|NLRP3_uc001ict.1_Silent_p.K597K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	599				K -> M (in Ref. 9).	detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TAAGTTGCAAGATCTCTCAGC	0.443000														53			9		0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752581	43752581	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:43752581C>T	uc002xnf.1	-	2	260	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	Homo sapiens WAP four-disulfide core domain 12 (WFDC12), mRNA.	81					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				atccttgtttcctcctttgga	0.547000														9			6		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834197	168834197	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:168834197G>A	uc011bpj.1	-	7	1866	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	MECOM_uc010hwk.1_Missense_Mutation_p.S323F|MECOM_uc003ffj.3_Missense_Mutation_p.S365F|MECOM_uc003ffi.3_Missense_Mutation_p.S300F|MECOM_uc011bpi.1_Missense_Mutation_p.S301F|MECOM_uc003ffn.3_Missense_Mutation_p.S300F|MECOM_uc003ffk.2_Missense_Mutation_p.S300F|MECOM_uc003ffl.2_Missense_Mutation_p.S460F|MECOM_uc011bpk.1_Missense_Mutation_p.S300F|MECOM_uc010hwn.2_Missense_Mutation_p.S488F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.S487S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAAGCTAAAAGAAAATCCAGG	0.478000														47			21		0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6742981	6742981	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:6742981C>T	uc002mfs.3	+	3	267	c.201C>T	c.(199-201)ttC>ttT	p.F67F	TRIP10_uc010dux.2_Silent_p.F67F|TRIP10_uc002mfr.3_Silent_p.F67F|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	67	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACCCCAGATTCAGCCAGCAAC	0.582000														58			20		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2966271	2966271	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:2966271C>T	uc022aqr.1	-	44	6999	c.6609_splice	c.e44-1	p.W2203_splice	CSMD1_uc011kwj.2_Splice_Site_p.W1596_splice|CSMD1_uc010lrg.3_Splice_Site_p.W272_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2204	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGACCGTCCCTAGGAAAGAC	0.443000														18			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47431082	47431082	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:47431082G>A	uc002leb.2	-	19	2819	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V	MYO5B_uc002lea.2_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	844	Arg-rich.|IQ 3.|IQ 4.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCGGGTGAAGGCCTGGATAAC	0.602000														43			14		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724597	45724597	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:45724597C>T	uc003tne.4	+	11	2021	c.2003C>T	c.(2002-2004)aCg>aTg	p.T668M		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	668					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGGTGCCTGACGATTCAGATT	0.433000														112			57		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757072	56757072	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:56757072G>C	uc010rjp.2	+	0	684	c.684G>C	c.(682-684)atG>atC	p.M228I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCCTGAAAATGTCTTCTAGTG	0.428000														51			60		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524209	55524209	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:55524209C>T	uc010spe.2	+	0	657	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	219					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						ATCTCTTTATCCATAGAATGA	0.353000														26			18		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77310494	77310494	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:77310494G>A	uc002bcf.2	+	1	492	c.42G>A	c.(40-42)agG>agA	p.R14R	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Silent_p.R5R|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Silent_p.R14R	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	14	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CACAGTGCAGGGACTTCACAG	0.607000														4			3		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077597	1077597	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:1077597G>A	uc001lsx.1	+	3	375	c.348_splice	c.e3-1	p.V116_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	116	VWFD 1.		V -> M (in dbSNP:rs11825977).			inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCTCCGCCAGGGTCAGCACC	0.687000														5			4		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116424217	116424217	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:116424217G>A	uc001tvw.3	-	18	4247	c.4192C>T	c.(4192-4194)Cca>Tca	p.P1398S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1398	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGAATGGCGAGATGGTG	0.507000														45			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139190844	139190844	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:139190844G>A	uc003yuy.3	-	9	1134	c.963C>T	c.(961-963)ttC>ttT	p.F321F	FAM135B_uc003yux.3_Silent_p.F222F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	321										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTGTCCAGGAACTGGGTCC	0.537000										HNSCC(54;0.14)				33			25		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261524	6261524	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6261524T>C	uc001mco.3	+	3	615	c.500T>C	c.(499-501)tTt>tCt	p.F167S	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.F127S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	167					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAAATGCCTTTCGCATTGCC	0.587000														78			19		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124631	103124631	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:103124631G>A	uc002tbz.4	+	4	1749	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	431					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGTGTTCGAGGAGCTGGAAGT	0.398000														49			20		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023446	109023446	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:109023446G>A	uc003dxo.3	-	6	977	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	244						nucleus	nucleic acid binding	p.H244Y(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGACCTGCATGAAACTGCAGG	0.502000														48			30		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637746	17637746	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:17637746T>C	uc003ncd.1	-	15	2302	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	NUP153_uc011dje.1_Missense_Mutation_p.N732S|NUP153_uc010jpl.1_Missense_Mutation_p.N659S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	701					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.P700P(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCCACTTTTATTTGGTGTTTC	0.408000														98			54		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731779	57731779	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:57731779C>T	uc010bfw.3	+	2	1775	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	CGNL1_uc002aeg.3_Missense_Mutation_p.P528S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	528	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAAGACATTTCCTTCGGCCTC	0.453000														13			11		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725125	181725125	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:181725125G>A	uc009wxt.3	+	28	4218	c.4023G>A	c.(4021-4023)atG>atA	p.M1341I	CACNA1E_uc001gow.3_Missense_Mutation_p.M1341I|CACNA1E_uc009wxs.3_Missense_Mutation_p.M1322I|CACNA1E_uc001gox.1_Missense_Mutation_p.M567I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1341					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						AAAACAAGATGGAGGTGAAGG	0.493000														19			25		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940558	113940558	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:113940558G>A	uc002tjc.3	+	1	708	c.525G>A	c.(523-525)gaG>gaA	p.E175E	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.E174E|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	175					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGCTGGAGAAGACGGAAG	0.637000														57			16		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254221	79254221	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:79254221C>T	uc002snw.3	+	3	342	c.257C>T	c.(256-258)tCc>tTc	p.S86F	REG3G_uc002snx.3_Missense_Mutation_p.S86F|REG3G_uc010ffu.3_Intron	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	86	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.S86S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGAGGGATCCTTCGTGTCC	0.547000														94			24		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622461	202622461	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:202622461G>A	uc002uyo.3	-	4	1491	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	ALS2_uc002uyp.4_Missense_Mutation_p.P379S|ALS2_uc002uyq.3_Missense_Mutation_p.P379S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	379					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGAGATTAGGAATTGCTTCT	0.393000														36			11		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72959143	72959143	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:72959143G>A	uc002jmj.4	-	3	570	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Silent_p.L140L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	141						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GACTCGGCCAGGGGCCTGGCA	0.647000														25			12		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131477090	131477090	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:131477090C>T	uc004bvw.3	+	12	1991	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	PKN3_uc010myh.3_Missense_Mutation_p.P533L|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	533	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCAAACGTCCCCATATGGAG	0.617000														34			35		0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62346106	62346106	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:62346106A>G	uc001nto.2	-	4	1239	c.1201T>C	c.(1201-1203)Tct>Cct	p.S401P		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	363					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGCCGGGCAGAGGGCACAGTT	0.572000														43			34		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99037075	99037075	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:99037075C>T	uc001vnh.3	+	6	827	c.588C>T	c.(586-588)atC>atT	p.I196I	FARP1_uc001vnj.3_Silent_p.I196I	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	196	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACAAAATCGTGGAATTTC	0.438000														37			22		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976413	4976413	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4976413G>A	uc010qyt.2	-	0	531	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTAGGAATGGGATAATTGGT	0.418000														23			37		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51492053	51492053	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:51492053C>T	uc001wyx.4	-	1	1613	c.848G>A	c.(847-849)gGa>gAa	p.G283E	TRIM9_uc001wyy.2_Missense_Mutation_p.G283E|TRIM9_uc001wyz.4_Missense_Mutation_p.G283E	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	283					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTCTGACAGTCCGTTCAGCGC	0.537000														115			56		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671187	31671187	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:31671187C>T	uc010zue.2	+	2	199	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	62						cytoplasm|extracellular region	lipid binding										TGGTGATATTCCCTACAATGA	0.507000														77			21		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606988	55606988	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55606988A>T	uc010rio.2	+	0	761	c.761A>T	c.(760-762)cAt>cTt	p.H254L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCATCTTCCATGGCACCATC	0.527000														66			13		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984935	7984935	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:7984935G>A	uc001mfv.1	-	0	125	c.108C>T	c.(106-108)acC>acT	p.T36T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	36	DAPIN.						ATP binding	p.T36I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCAGACAGGGTCATATCCC	0.542000														53			20		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74666356	74666356	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:74666356G>A	uc001jte.1	+	3	765	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	183	EGF-like; calcium-binding (Potential).					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTCTGCAGATGAAAATGAATG	0.478000														99			46		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765648	66765648	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:66765648C>T	uc004dwu.2	+	0	1775	c.660C>T	c.(658-660)tcC>tcT	p.S220S	AR_uc011mpd.2_Silent_p.S220S|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.S220S|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Silent_p.S220S	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	218	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTCCCACTTCCTCCAAGGACA	0.597000									Androgen Insensitivity Syndrome					6			11		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550584	144550584	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:144550584G>A	uc003yyd.2	-	6	2102	c.2073C>T	c.(2071-2073)atC>atT	p.I691I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	691					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGGGATCGTGGATGTAGGGGC	0.672000														14			11		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419842	30419842	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:30419842C>T	uc002wwq.2	+	11	1715	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	MYLK2_uc002wws.2_Missense_Mutation_p.P155L|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	538	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCGCCCATCCCTGGCTCAAC	0.607000														4			5		0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045212	35045212	+	Silent	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:35045212A>G	uc001zis.1	-	1	433	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	145					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCATTTTGCAACTTCTTATCT	0.537000														52			97		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032635	46032635	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:46032635C>T	uc002zfo.1	+	0	640	c.618C>T	c.(616-618)tcC>tcT	p.S206S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	206	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCAGACCCTCCTCCTCCGTGT	0.662000														112			63		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460375	160460375	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:160460375C>T	uc001fwe.2	-	3	817	c.747G>A	c.(745-747)agG>agA	p.R249R	SLAMF6_uc010pji.2_Silent_p.R138R|SLAMF6_uc001fwd.2_Silent_p.R249R|SLAMF6_uc010pjh.2_Silent_p.R200R|SLAMF6_uc010pjj.2_Silent_p.R138R	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	249						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTTCTTTTCCTCAAAACAA	0.393000														35			13		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973766	115973766	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:115973766C>T	uc001lbg.1	+	15	2258	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	TDRD1_uc001lbf.3_Missense_Mutation_p.P636L|TDRD1_uc001lbh.1_Missense_Mutation_p.P693L|TDRD1_uc001lbi.1_Missense_Mutation_p.P693L|TDRD1_uc010qsc.2_Missense_Mutation_p.P306L|TDRD1_uc001lbj.3_Missense_Mutation_p.P411L	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	702					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGTAAATCCATTGGAGTGG	0.423000														10			25		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129238505	129238505	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:129238505C>T	uc003eml.3	+	29	3925	c.3719C>T	c.(3718-3720)cCc>cTc	p.P1240L	IFT122_uc003emm.3_Missense_Mutation_p.P1189L|IFT122_uc003emn.3_Missense_Mutation_p.P1130L|IFT122_uc003emo.3_Missense_Mutation_p.P1079L|IFT122_uc003emp.3_Missense_Mutation_p.P1039L|IFT122_uc010htc.3_Missense_Mutation_p.P1182L|IFT122_uc011bky.2_Missense_Mutation_p.P980L|IFT122_uc011bla.2_Missense_Mutation_p.P963L|IFT122_uc003emr.3_Missense_Mutation_p.P942L|IFT122_uc010hte.3_Missense_Mutation_p.P515L|IFT122_uc003ems.3_Missense_Mutation_p.P571L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1189					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGCCCCCACCCCTGAGGTGG	0.632000														52			38		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470877	79470877	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:79470877G>A	uc001diq.4	-	1	206	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	17					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)		TTGAGTATAGGAACAATTCAA	0.343000														13			20		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901695	40901695	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:40901695G>A	uc002onr.3	-	6	2833	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L	PRX_uc002onq.3_Missense_Mutation_p.P716L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	855					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCACTGAAGGCAGAGTGAG	0.632000														43			29		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806844	2806844	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:2806844C>T	uc022aqr.1	-	67	10769	c.10379G>A	c.(10378-10380)gGa>gAa	p.G3460E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2775E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1352E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTAAATTTTCCAAAGTCTTT	0.328000														20			7		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967800	4967800	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4967800G>A	uc010qys.2	-	0	531	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S177S(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTAGGAATGGGATAATTGGT	0.413000														161			6		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045588	80045588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:80045588G>A	uc002kdu.3	-	18	3133	c.3016C>T	c.(3016-3018)Cag>Tag	p.Q1006*	FASN_uc002kdw.1_Nonsense_Mutation_p.Q222*	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1006					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGGATGCCCTGGAAATGAGGG	0.647000														23			8		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129782113	129782113	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:129782113G>A	uc001qfm.3	-	18	3093	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	PRDM10_uc001qfj.3_Missense_Mutation_p.S868F|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Missense_Mutation_p.S868F|PRDM10_uc010sbx.2_Missense_Mutation_p.S864F|PRDM10_uc001qfn.3_Missense_Mutation_p.S950F	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	954	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTGGTGAGGGGAAGTGGCCTG	0.502000														72			14		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583553	7583553	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7583553G>A	uc003mxp.1	+	23	6337	c.6058G>A	c.(6058-6060)Gga>Aga	p.G2020R	DSP_uc003mxq.1_Missense_Mutation_p.G1421R|DSP_uc021yle.1_Missense_Mutation_p.G1577R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2020	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.A2019T(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCTATCGCTGGAGCATCTGC	0.473000														50			31		0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600929	161600929	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:161600929C>T	uc009wul.3	-	0	324	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	FCGR3B_uc021pdo.1_Splice_Site	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCCGGAGCCCTAAAGGGACC	0.527000														40			6		0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595494	152595494	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152595494G>A	uc010pdt.2	-	0	86	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	29					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCTGGAGGAAGCTGGAGG	0.652000														28			47		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569692	73569692	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:73569692G>A	uc002joh.3	+	20	3010	c.2856G>A	c.(2854-2856)aaG>aaA	p.K952K	LLGL2_uc002joi.3_Silent_p.K952K|LLGL2_uc010dgg.2_Silent_p.K952K|LLGL2_uc002joj.3_Silent_p.K941K|LLGL2_uc010wsd.2_Silent_p.K579K	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	952					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGGCCCCAAGAAGGCCCCGA	0.662000														28			17		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098779	21098779	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:21098779G>A	uc001iqi.3	-	24	2964	c.2567C>T	c.(2566-2568)cCc>cTc	p.P856L	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	856	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTCTTCCAGGGGATCAAGGTC	0.408000														57			27		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551080	102551080	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:102551080C>T	uc001yku.4	-	4	1109	c.919G>A	c.(919-921)Gag>Aag	p.E307K	HSP90AA1_uc001ykv.4_Missense_Mutation_p.E429K|HSP90AA1_uc001ykw.1_Missense_Mutation_p.E128K|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E296K	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	307					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CCGTACTCCTCATTAGTAATA	0.423000														70			45		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18027833	18027833	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:18027833C>T	uc021trm.1	+	1	3865	c.3646C>T	c.(3646-3648)Cgt>Tgt	p.R1216C	MYO15A_uc021trl.1_Missense_Mutation_p.R1216C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1216	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CATGCGGTTCCGTGAGCAGCA	0.652000														23			13		0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12618584	12618584	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:12618584C>T	uc001ral.2	+	3	831	c.465C>T	c.(463-465)atC>atT	p.I155I	LOH12CR1_uc009zhu.2_Silent_p.I107I	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	Homo sapiens loss of heterozygosity, 12, chromosomal region 1 (LOH12CR1), mRNA.	155										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TGTCCGCCATCCTCCGCCGCA	0.572000														19			29		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217347508	217347508	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:217347508G>A	uc002vgc.4	+	17	3003	c.2673G>A	c.(2671-2673)gaG>gaA	p.E891E	SMARCAL1_uc002vgd.4_Silent_p.E891E|SMARCAL1_uc010fvg.3_Silent_p.E869E	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	891					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGTCCTTTGAGAAAGAAGGAA	0.468000									Schimke Immuno-Osseous Dysplasia					40			97		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012858	32012858	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:32012858T>G	uc003nzl.2	-	31	11048	c.10846A>C	c.(10846-10848)Acc>Ccc	p.T3616P	TNXB_uc003nzg.1_Missense_Mutation_p.T47P|TNXB_uc003nzh.1_Missense_Mutation_p.T85P	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3663	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTAGGGGGTGCTGGGCTCC	0.642000														33			8		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543105	167543105	+	Silent	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:167543105A>G	uc003ffa.4	+	8	1425	c.1227A>G	c.(1225-1227)gaA>gaG	p.E409E	SERPINI1_uc003ffb.4_Silent_p.E409E	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	409					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTTCGAAGAACTTTAAGTTA	0.323000														48			23		0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17398530	17398530	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:17398530C>T	uc002gri.3	-	1	969	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	RASD1_uc021trg.1_3'UTR	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA.	252					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						TACGCTGGGCCGGCGCGCGAA	0.711000														11			13		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412219	51412219	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:51412219G>A	uc001nhi.2	-	0	230	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGCAAGGAAGAAATACATTG	0.418000														21			14		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786523	121786523	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:121786523G>A	uc003ksw.1	+	9	2187	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E219K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E295K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E708K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E295K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E257K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E295K|SNCAIP_uc003kta.1_Missense_Mutation_p.E293K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E355K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E601K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E177K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	661					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.E661K(2)|p.E708K(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAGAAGAGGGAACTGAAGTT	0.488000														30			23		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035068	201035068	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:201035068C>T	uc001gvv.3	-	21	2978	c.2751G>A	c.(2749-2751)gtG>gtA	p.V917V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	917				Missing (in Ref. 2; AAB37235).	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCACTGCACCACGTGCTGGG	0.592000														13			5		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134991	71134991	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:71134991G>A	uc003tvy.3	+	7	1301	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	WBSCR17_uc003tvz.3_Missense_Mutation_p.R133K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E433D(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTCTCCGAAAGAAGAGCATTA	0.463000														71			39		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567097	136567098	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:136567097_136567098CC>TT	uc002tuu.1	-	7	2830_2831	c.2819_2820GG>AA	c.(2818-2820)ggg>gAA	p.G940E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	940	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCACATTGCTCCCTGGTGTGTG	0.540000														46			14		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974885	64974885	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64974885A>C	uc001jmn.3	-	7	1342	c.1042T>G	c.(1042-1044)Ttg>Gtg	p.L348V	JMJD1C_uc001jml.3_Missense_Mutation_p.L129V|JMJD1C_uc001jmm.3_Missense_Mutation_p.L60V|JMJD1C_uc010qiq.2_Missense_Mutation_p.L166V|JMJD1C_uc009xpi.3_Missense_Mutation_p.L166V|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.L60V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	348					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTATTCATCAAGTGTTTGTTT	0.289000														12			11		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30987074	30987074	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:30987074G>A	uc021vfn.1	-	4	655	c.623C>T	c.(622-624)tCc>tTc	p.S208F	CAPN13_uc021vfm.1_Missense_Mutation_p.S208F|CAPN13_uc002rnp.1_Missense_Mutation_p.S208F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	208	Calpain catalytic.				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)					GTCCACAGGGGAAGAGTGCAG	0.577000														5			11		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919977	4919977	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:4919977C>T	uc001qng.3	+	0	1636	c.770C>T	c.(769-771)tCc>tTc	p.S257F	KCNA6_uc021qtr.1_Missense_Mutation_p.S257F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	257						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTTGGGGGCTCCTTCTTTACA	0.567000										HNSCC(72;0.22)				27			35		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:58207172G>A	uc010rkh.2	-	0	475	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000														43			40		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306575	14306575	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:14306575A>T	uc021war.1	-	0	1578	c.1578T>A	c.(1576-1578)aaT>aaA	p.N526K	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.N526K|FLRT3_uc002wow.2_Missense_Mutation_p.N526K	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	526					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CCAAAGGTAAATTGGGGTTTT	0.468000														77			14		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55056097	55056097	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:55056097G>A	uc003jqg.4	+	3	296	c.197G>A	c.(196-198)gGa>gAa	p.G66E	DDX4_uc010ivz.3_Missense_Mutation_p.G66E|DDX4_uc003jqh.4_Missense_Mutation_p.G66E	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	66	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGAATTTTGGAAACAGAGGT	0.378000														51			30		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577410	104577410	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:104577410C>T	uc003hxe.1	-	2	970	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	277						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGGATTTCTCCTCCCCAGAGA	0.393000														52			13		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140336645	140336645	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:140336645C>T	uc004fbk.3	-	1	1	c.-55_splice	c.e1-1		SPANXC_uc004fbl.3_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.							cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGAATCTTCGCAGTGGCCC	0.522000														7			29		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209309557	209309557	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:209309557T>A	uc010zjb.2	+	6	1117	c.831T>A	c.(829-831)ttT>ttA	p.F277L	PTH2R_uc002vdb.3_Missense_Mutation_p.F266L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	266						integral to plasma membrane	parathyroid hormone receptor activity	p.L276L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATCTCATCTTTGTGGCTTTCT	0.413000														128			31		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138651666	138651666	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:138651666C>T	uc011mdq.2	+	10	1070	c.996C>T	c.(994-996)gtC>gtT	p.V332V	KCNT1_uc011mdr.2_Silent_p.V159V|KCNT1_uc010nbf.3_Silent_p.V287V|KCNT1_uc004cgo.1_Silent_p.V81V	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	332						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCTGGTGGTCATCATGATCT	0.632000														9			20		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27898640	27898640	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27898640C>T	uc003xgm.4	-	12	1682	c.1539G>A	c.(1537-1539)atG>atA	p.M513I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	513						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GAGGCTGCTCCATGCAGGCGA	0.562000														16			6		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777154	60777154	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:60777154G>A	uc001nqq.3	+	4	1117	c.892G>A	c.(892-894)Gag>Aag	p.E298K	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Missense_Mutation_p.E298K|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.E298K|CD6_uc001nqt.3_Missense_Mutation_p.E298K	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	298	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GTACCCATCGGAGGCCAAGGT	0.632000														22			13		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396368	122396368	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:122396368C>T	uc009zxk.3	+	11	2080	c.1921C>T	c.(1921-1923)Ctt>Ttt	p.L641F	WDR66_uc021rfh.1_Missense_Mutation_p.L641F	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	641							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAACAATATCTTTTCAGCAG	0.468000														204			106		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90193380	90193380	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:90193380G>A	uc010yts.2	+	34		c.4237G>A								Parts of antibodies, mostly variable regions.																		CCTGCAGCCTGAAGATTTTGC	0.468000														84			7		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334817	71334817	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:71334817G>A	uc010dfm.3	-	44	6428	c.6428C>T	c.(6427-6429)cCc>cTc	p.P2143L	SDK2_uc002jjt.4_Missense_Mutation_p.P1283L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2143					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						CTGACTTGGGGGGTTAGGGGG	0.627000														16			9		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410419	5410419	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:5410419G>A	uc003soi.4	-	10	4155	c.3806C>T	c.(3805-3807)cCc>cTc	p.P1269L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1269							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCACCACGGGCACCGCCAC	0.697000														16			4		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137597817	137597817	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:137597817G>A	uc003vtw.3	-	3	899	c.503C>T	c.(502-504)tCc>tTc	p.S168F	CREB3L2_uc003vtx.2_Missense_Mutation_p.S168F|CREB3L2_uc003vty.4_Missense_Mutation_p.S168F|CREB3L2_uc003vtv.3_Missense_Mutation_p.S105F	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	168					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGGCACGAGGAATCAACCTG	0.433000			T	FUS	fibromyxoid sarcoma									21			8		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16319956	16319956	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:16319956T>C	uc002ndv.2	+	4	687	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	AP1M1_uc002ndu.2_Missense_Mutation_p.F172L|AP1M1_uc010xpd.1_Missense_Mutation_p.F172L	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	172	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAATGAGGTGTTCTTGGACGT	0.527000														69			47		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371310	126371310	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:126371310C>T	uc003ifj.4	+	8	9139	c.9139C>T	c.(9139-9141)Ctg>Ttg	p.L3047L	FAT4_uc011cgp.2_Silent_p.L1345L|FAT4_uc003ifi.1_Silent_p.L525L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3047	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCATCCTCCCTGATTTCTGA	0.388000														29			20		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407453	9407454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9407453_9407454GG>AA	uc002mlc.1	-	4	626_627	c.626_627CC>TT	c.(625-627)tcc>tTT	p.S209F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACTCTTAAGGGATGAATGATC	0.421000														86			41		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99042300	99042300	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:99042300C>T	uc001vnh.3	+	9	1184	c.945C>T	c.(943-945)ttC>ttT	p.F315F	FARP1_uc001vnj.3_Silent_p.F315F	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	315	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATCATGCCTTCTTTAGACTTT	0.493000														117			54		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:99932099C>T	uc001pga.3	+	9	1640	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000														33			8		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39080712	39080712	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:39080712G>A	uc003xmt.4	+	13	1725	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	ADAM32_uc011lch.2_Missense_Mutation_p.D395N|ADAM32_uc003xmu.4_Missense_Mutation_p.D388N|ADAM32_uc003xmv.3_Silent_p.E15E	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	494	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTATGACGGAGACTGCCATGA	0.348000														7			4		0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552269	152552270	+	Missense_Mutation	DNP	GG	AA	AA	rs146594158		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152552269_152552270GG>AA	uc021oza.1	-	0	143_144	c.143_144CC>TT	c.(142-144)tcc>tTT	p.S48F	LCE3D_uc001fab.3_Missense_Mutation_p.S48F	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	48					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		AGCCGCCCTCGGAGCTAGGGCC	0.663000														92			38		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627845	26627845	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:26627845C>T	uc003xfc.1	-	1	1658	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.A408T|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.A408T|ADRA1A_uc003xfh.1_Missense_Mutation_p.A408T	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	408					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTAATCCTGGCAGATCCACGG	0.532000														72			40		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561477	15561477	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:15561477C>T	uc002yjm.3	-	1	383	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.E104K|LIPI_uc021whh.1_Missense_Mutation_p.E104K|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.E104K|LIPI_uc021whe.1_Missense_Mutation_p.E104K|LIPI_uc021whf.1_Missense_Mutation_p.E104K	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.E125Q(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATATCTTCTTCATTCAGC	0.393000														33			17		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333848	138333849	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:138333848_138333849CC>TT	uc011kqh.2	-	6	568_569	c.568_569GG>AA	c.(568-570)ggc>AAc	p.G190N	SVOPL_uc003vue.3_Missense_Mutation_p.G38N	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	190						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGAGGCCAAGCCAATGATGAGC	0.525000														37			19		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119216149	119216149	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:119216149C>G	uc003ica.2	-	10	2031	c.1984G>C	c.(1984-1986)Ggg>Cgg	p.G662R		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCGTAGCCCCGCAGAGGAGC	0.532000														37			9		0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154420641	154420641	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:154420641C>T	uc001fez.2	+	6	1427	c.990C>T	c.(988-990)ccC>ccT	p.P330P	IL6R_uc001ffa.2_Silent_p.P330P	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	330					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTCCACCCCCATGCAGGTGA	0.527000														59			45		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187423	123187423	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:123187423C>T	uc001ucx.1	-	0	482	c.408G>A	c.(406-408)ctG>ctA	p.L136L	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	136					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AGATCTTGTTCAGGGCGTGGT	0.557000														55			44		0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114278251	114278251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:114278251C>T	uc001pow.3	+	4	536	c.526C>T	c.(526-528)Caa>Taa	p.Q176*	RBM7_uc001pov.3_Nonsense_Mutation_p.Q175*|RBM7_uc001pox.3_Nonsense_Mutation_p.Q55*	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	175					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		ACCATCAGTTCAATCACACAG	0.413000														47			31		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53555603	53555603	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:53555603G>A	uc021onn.1	-	8	1575	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	SLC1A7_uc021onm.1_Silent_p.I338I|SLC1A7_uc001cux.3_Silent_p.I63I|SLC1A7_uc001cuy.3_Silent_p.I410I|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	419						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CAGTGGCTGTGATACTGCAGG	0.642000														57			15		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287620	16287620	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:16287620G>A	uc010gqp.2	-	0	318	c.266C>T	c.(265-267)tCt>tTt	p.S89F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	89										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAATCGTCGTG	0.607000														175			74		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985315	21985315	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:21985315G>A	uc003xas.3	-	2	1305	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	HR_uc003xat.3_Missense_Mutation_p.P214S	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	214							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCCAACCTGGGAATGCTCGGA	0.567000														93			54		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784584	82784584	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:82784584T>G	uc003uhx.2	-	1	1662	c.1373A>C	c.(1372-1374)aAg>aCg	p.K458T	PCLO_uc003uhv.2_Missense_Mutation_p.K458T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	409	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCAGAAGTCTTTCCGGGTCC	0.607000														53			38		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190147385	190147385	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:190147385C>T	uc003fsj.2	-	4	507	c.440G>A	c.(439-441)tGa>tAa	p.*147*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	0						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		CACCTAAAATCAGGTTGTTTT	0.373000														25			14		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590125	590125	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:590125G>A	uc003siu.2	-	10	1221	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	PRKAR1B_uc021zyi.1_Missense_Mutation_p.S363F|PRKAR1B_uc003siv.3_Missense_Mutation_p.S363F|PRKAR1B_uc021zyj.1_Missense_Mutation_p.S363F|PRKAR1B_uc021zyk.1_Missense_Mutation_p.S363F|PRKAR1B_uc003siw.2_Missense_Mutation_p.S363F	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	363					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GAGGATCTCAGAGCAGGGCCC	0.667000														13			6		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050183	39050183	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:39050183C>T	uc002rrf.3	-	16	3342	c.3243G>A	c.(3241-3243)ttG>ttA	p.L1081L	DHX57_uc002rrd.4_Silent_p.L465L|DHX57_uc002rre.3_Silent_p.L514L	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1081							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAGCAGGATCCAAACAGCGGA	0.448000														23			7		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74116200	74116200	+	Silent	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:74116200A>G	uc003pgw.3	+	6	1265	c.921A>G	c.(919-921)caA>caG	p.Q307Q	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	307	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGGTCCTTCAACCCAGGTAAG	0.353000														31			10		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756645	137756645	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:137756645C>T	uc003lcy.1	+	14	4166	c.3966C>T	c.(3964-3966)tcC>tcT	p.S1322S	KDM3B_uc010jew.1_Silent_p.S978S|KDM3B_uc011cys.1_Silent_p.S354S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1322					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTCTACATCCTCAGCAGTAA	0.502000														62			22		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10188298	10188298	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:10188298C>T	uc002raf.1	+	2	996	c.834C>T	c.(832-834)gtC>gtT	p.V278V	KLF11_uc021vdq.1_Silent_p.V261V|KLF11_uc010yjc.2_Silent_p.V261V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	278					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGATTTCTGTCTCTGTCCCTG	0.527000														38			41		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41581082	41581082	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:41581082G>A	uc003xok.3	-	7	865	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R261W|ANK1_uc003xoj.3_Missense_Mutation_p.R261W|ANK1_uc003xol.3_Missense_Mutation_p.R261W|ANK1_uc003xom.3_Missense_Mutation_p.R294W	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	261	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R261W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGCTCCCCGATCCAGCAGC	0.652000														65			36		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884799	228884799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:228884799C>T	uc002vpq.2	-	6	818	c.771G>A	c.(769-771)tgG>tgA	p.W257*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.W257*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.W257*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	257						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTTGCAATTCCATTCCACCT	0.383000														40			94		0	0	1	0	0
NRBF2	29982	broad.mit.edu	37	10	64913917	64913917	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64913917C>T	uc001jmj.4	+	3	1027	c.803C>T	c.(802-804)tCt>tTt	p.S268F	NRBF2_uc010qip.2_Missense_Mutation_p.S258F	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	Homo sapiens nuclear receptor binding factor 2 (NRBF2), mRNA.	268					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTTCCATCTCCAGAACTT	0.428000														52			13		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811873	100811873	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:100811873G>A	uc010svi.2	+	10	1677	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	SLC17A8_uc009ztx.3_Missense_Mutation_p.G405E	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	455					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATCTCAAACGGAGTGGGAACC	0.488000														72			61		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723714	142723714	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142723714G>A	uc003wcc.1	-	0	506	c.506C>T	c.(505-507)tCa>tTa	p.S169L		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATGGTCTAATGAATTTGATTT	0.393000														93			53		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033709	228033709	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:228033709G>A	uc001hrh.3	+	4	781	c.781G>A	c.(781-783)Gga>Aga	p.G261R		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	261	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTTGCAGATTGGAATTGTGAG	0.507000														67			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69032452	69032452	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:69032452C>A	uc003xxv.1	+	28	3553	c.3526C>A	c.(3526-3528)Cta>Ata	p.L1176I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1176					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						TACCAATCTCCTAAAAGGGCA	0.373000														34			16		4.7546e-09	4.78232e-09	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76640689	76640689	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:76640689C>T	uc003pik.1	-	14	2354	c.2224G>A	c.(2224-2226)Gga>Aga	p.G742R		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	742					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCTCCCTTTCCCTGGAGGACC	0.527000														47			29		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480405	140480405	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140480405G>A	uc003lio.3	+	0	172	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	58	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGGTAGAGGAACTGGCCGC	0.498000														50			23		0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58904090	58904090	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:58904090C>T	uc002afd.1	-	11	2056	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.G237S|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.G75S	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	538	Disintegrin.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GCTGTGAAGCCATTACATATT	0.438000														53			14		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78710855	78710855	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:78710855G>A	uc004akc.2	+	7	1482	c.944G>A	c.(943-945)gGa>gAa	p.G315E	PCSK5_uc004ajy.2_Missense_Mutation_p.G315E|PCSK5_uc004ajz.3_Missense_Mutation_p.G315E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	315	Catalytic.				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						GGAAATGGTGGAAGGAGCAAA	0.493000														27			24		0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085482	3085482	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3085482C>T	uc002ctf.4	-	0	61	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	CCDC64B_uc002cte.4_5'Flank	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	6										breast(1)|endometrium(2)|large_intestine(1)	4						AAGCTGGGCCCATCTGGAGAG	0.682000														39			9		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231125	7231125	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7231125C>T	uc003mxb.3	+	9	3285	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	RREB1_uc021yky.1_Silent_p.S931S|RREB1_uc003mxc.3_Silent_p.S931S|RREB1_uc010jnx.3_Silent_p.S931S|RREB1_uc021ykz.1_Silent_p.S931S|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	931					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGACTGCTCCATGGAGCCCA	0.587000														25			10		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117664507	117664508	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:117664507_117664508CC>TT	uc001twn.2	-	24	4497_4498	c.3786_3787GG>AA	c.(3784-3789)ctggtc>ctAAtc	p.V1263I	NOS1_uc021ren.1_Missense_Mutation_p.V893I|NOS1_uc021reo.1_Missense_Mutation_p.V893I|NOS1_uc001twm.2_Missense_Mutation_p.V1229I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1229					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1262Q(2)|p.R1262*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAACAGGGGACCAGTTCGTCAG	0.505000														24			12		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55880742	55880742	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:55880742C>T	uc021tir.1	-	12	1667	c.1521G>A	c.(1519-1521)acG>acA	p.T507T	CES5A_uc002eip.2_Silent_p.T478T|CES5A_uc002eio.2_Silent_p.T428T|CES5A_uc002eiq.2_Silent_p.T239T|CES5A_uc002eir.2_Silent_p.T372T	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	478						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCTCCTCCTCCGTGGCTCCTT	0.537000														121			31		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137915	56137915	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:56137915C>T	uc002xyn.4	+	3	733	c.570C>T	c.(568-570)gtC>gtT	p.V190V	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	190					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGGAGTTTGTCAAATGCCTCC	0.512000														31			24		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62993337	62993337	+	Silent	SNP	C	T	T	rs139848057		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:62993337C>T	uc002alb.4	+	13	1620	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	540					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D540N(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAAGTCGACGAATCCAAAC	0.507000														50			3		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97345795	97345795	+	Silent	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:97345795A>T	uc001tew.3	+	14	2114	c.1968A>T	c.(1966-1968)ctA>ctT	p.L656L	NEDD1_uc001teu.4_Silent_p.L649L|NEDD1_uc001tev.4_Silent_p.L649L|NEDD1_uc010svc.2_Silent_p.L560L|NEDD1_uc001tex.3_Silent_p.L560L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	649					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTGAAAGACTACGAGAAGAAA	0.338000														23			4		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114553	186114553	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:186114553C>T	uc001grq.1	+	91	14514	c.14285C>T	c.(14284-14286)cCt>cTt	p.P4762L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P331L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4762	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTGGAGTCCTTGGAGTGGC	0.502000														69			22		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685478	53685478	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:53685478T>G	uc001sck.2	+	25	5616	c.5525T>G	c.(5524-5526)aTg>aGg	p.M1842R	ESPL1_uc001scj.2_Missense_Mutation_p.M1517R	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1842					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGCAGATCATGCTCAGTGGT	0.552000														156			96		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884131	205884131	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:205884131G>A	uc001hdp.3	-	21	2667	c.2553C>T	c.(2551-2553)agC>agT	p.S851S	SLC26A9_uc001hdm.3_Silent_p.S98S|SLC26A9_uc001hdn.3_Silent_p.S98S|SLC26A9_uc001hdo.3_3'UTR|SLC26A9_uc001hdq.3_3'UTR	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCTGTTTTTGGCTCACTCGTA	0.557000														46			75		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285910	130285910	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:130285910C>T	uc010htl.3	+	3	1678	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	549	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGGCATGTCCAAGGATAGCA	0.478000														62			36		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198758	20198758	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:20198758C>T	uc003sus.4	-	4	1535	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	MACC1_uc010kug.3_Missense_Mutation_p.G409E	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	409					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.G408G(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TATGTTTTTTCCACCCTTCTT	0.368000														32			16		0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709838	67709838	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:67709838G>C	uc002eub.3	-	2	673	c.378C>G	c.(376-378)ttC>ttG	p.F126L	GFOD2_uc002euc.3_Missense_Mutation_p.F21L|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	126						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGGCAGGCAGGAAGCGCAGCA	0.587000														30			6		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261772	6261772	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6261772G>A	uc001mco.3	+	3	863	c.748G>A	c.(748-750)Gac>Aac	p.D250N	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.D210N	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	250					response to stimulus|sensory perception of smell		cAMP binding	p.G249G(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGTGGGCGACTTCCTGCT	0.532000														40			47		0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20355393	20355393	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:20355393G>A	uc002dhb.3	-	6	1512	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	UMOD_uc002dgz.3_Silent_p.P428P|UMOD_uc002dha.3_Silent_p.P428P	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	428	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATGTCCAGGGGGTAGGAGC	0.537000														24			26		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594856	140594856	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140594856G>A	uc003lja.1	+	0	1348	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.Q387H(2)|p.Q387P(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCATTCAGGAGGATCTAC	0.458000														77			44		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128304396	128304396	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:128304396G>A	uc003qbk.3	-	22	3742	c.3375C>T	c.(3373-3375)gtC>gtT	p.V1125V	PTPRK_uc010kfc.3_Silent_p.V1132V|PTPRK_uc003qbj.3_Silent_p.V1126V|PTPRK_uc011ebu.2_Silent_p.V1148V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1125	Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTCTGTCTGGACCATATTAA	0.343000														8			10		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423883	47423883	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:47423883G>C	uc002zhu.1	+	34	3145	c.3043G>C	c.(3043-3045)Ggt>Cgt	p.G1015R	COL6A1_uc002zhv.1_Missense_Mutation_p.G346R	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	1015	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCTGCTCCGCGGTGTCTTCCA	0.672000														94			35		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504407	64504407	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:64504407C>T	uc009ypu.3	-	8	1140	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	RASGRP2_uc001oat.3_Missense_Mutation_p.G207S|RASGRP2_uc001oau.3_Missense_Mutation_p.G160S|RASGRP2_uc009ypv.3_Missense_Mutation_p.G305S|RASGRP2_uc009ypw.3_Missense_Mutation_p.G305S	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	305	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGTGCACACCCAGGATCGGG	0.652000														24			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107718648	107718648	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:107718648C>T	uc010ljo.1	-	15	2085	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	LAMB4_uc003vey.2_Silent_p.T667T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	667	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAACATACCTCGTAGCCGCTG	0.468000														8			5		0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38181484	38181485	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38181484_38181485CC>TT	uc003chx.3	+	1	681_682	c.497_498CC>TT	c.(496-498)ccc>cTT	p.P166L	ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Missense_Mutation_p.P166L|MYD88_uc011ayi.2_Missense_Mutation_p.P166L|MYD88_uc011ayj.2_Missense_Mutation_p.P166L|MYD88_uc011ayk.2_Intron|MYD88_uc011ayl.2_Intron	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	153	TIR.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGATGACCCCCTGGGTAAGG	0.564000			Mis		ABC-DLBCL									14			6		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23244844	23244844	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:23244844G>A	uc001irm.4	+	3	358	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ARMC3_uc010qcv.2_Missense_Mutation_p.G92E|ARMC3_uc010qcw.2_5'UTR|ARMC3_uc001irn.1_Missense_Mutation_p.G4E	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	92							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGATATTTGGAATCCTGGCT	0.299000														16			8		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881284	39881284	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:39881284G>T	uc002hxm.1	-	11	1697	c.1685C>A	c.(1684-1686)cCc>cAc	p.P562H	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.P510H|HAP1_uc002hxo.1_Missense_Mutation_p.P493H|HAP1_uc002hxp.1_Missense_Mutation_p.P485H	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	562	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.P510L(1)|p.P510H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCTCCTGGGGCACGAACTC	0.637000														231			143		4.48024e-70	4.54038e-70	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37440998	37440998	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:37440998C>T	uc021ppc.1	+	11	1587	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ANKRD30A_uc001iza.1_Silent_p.F496F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	552						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F496L(2)|p.M495L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCCGATGTTCCCACCAGAAT	0.284000														29			16		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460216	107460216	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:107460216C>T	uc002tdq.3	-	1	337	c.218G>A	c.(217-219)gGc>gAc	p.G73D	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G73D|ST6GAL2_uc002tds.3_Missense_Mutation_p.G73D	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	73					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCGTCCAGGCCCCCAGGCGG	0.701000														23			17		0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101988913	101988913	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:101988913C>T	uc011kkp.2	-	5	1381	c.960G>A	c.(958-960)acG>acA	p.T320T	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	320	Arg-rich.																CCCTCGGGTTCGTGGAACGGT	0.572000														438			35		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408426	29408426	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:29408426C>T	uc011dlp.2	+	0	711	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCCTTTGGCCTCATCCTGGG	0.587000														129			85		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421780	115421780	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:115421780C>T	uc011lwx.1	+	4	1841	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	KIAA1958_uc004bgf.1_Missense_Mutation_p.R528C	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	528								p.L555L(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CGCGCGTTCTCGCAACATCGT	0.572000														8			7		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2934388	2934388	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:2934388C>A	uc002klo.3	-	7	1468	c.1229G>T	c.(1228-1230)gGt>gTt	p.G410V		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	410					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGGTTCTAGACCCTTTAAGTC	0.353000														27			6		0.00198382	0.00198546	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64491657	64491657	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:64491657G>A	uc001xgl.3	+	39	6098	c.5868G>A	c.(5866-5868)agG>agA	p.R1956R	SYNE2_uc001xgm.3_Silent_p.R1956R|SYNE2_uc021ruh.1_Silent_p.R1956R	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1956					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.L1955L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAACCTGAGGAAGTGGTTGA	0.383000														32			22		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308623	248308623	+	Silent	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248308623C>A	uc010pze.2	+	0	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TCCACACCCCCATGTACTTCC	0.522000														409			6		1.06961e-07	1.07495e-07	1	1	0
ADAM28	10863	broad.mit.edu	37	8	24207428	24207428	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24207428T>A	uc003xdy.3	+	18	2125	c.2042T>A	c.(2041-2043)gTg>gAg	p.V681E	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.V368E	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	681					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTTTGTGGTGGTTGCTATG	0.507000														97			48		0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122720958	122720958	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:122720958T>C	uc003pyu.2	+	0	263	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L	HSF2_uc003pyt.4_Missense_Mutation_p.F26L|HSF2_uc003pyv.2_Missense_Mutation_p.F26L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	26					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CACTAACGAGTTCATCACCTG	0.607000														27			17		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450167	44450167	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:44450167G>A	uc003gwu.3	-	0	658	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	125						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCCTTCTCGGGGAAGTGCTC	0.612000										HNSCC(17;0.042)				15			13		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198700854	198700854	+	Splice_Site	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:198700854A>G	uc001gur.1	+	18	2148	c.1968_splice	c.e18+1	p.Q656_splice	PTPRC_uc001gut.1_Splice_Site_p.Q495_splice|PTPRC_uc009wzf.1_Splice_Site_p.Q544_splice|PTPRC_uc021pgy.1_Splice_Site_p.Q610_splice|PTPRC_uc010ppg.1_Splice_Site_p.Q592_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	656	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGAATTTCAGGTGTGTGTT	0.343000														79			4		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81382804	81382804	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:81382804G>A	uc001xux.2	-	1	259	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CEP128_uc001xuz.2_Nonsense_Mutation_p.R30*|CEP128_uc001xva.1_Nonsense_Mutation_p.R30*|CEP128_uc010ata.1_Nonsense_Mutation_p.R30*	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	30						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GGAAGACTTCGAGTTCCCCTG	0.418000														43			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696915	11696915	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:11696915G>A	uc002gne.3	+	41	8225	c.8157G>A	c.(8155-8157)atG>atA	p.M2719I	DNAH9_uc010coo.3_Missense_Mutation_p.M2013I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2719					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGATAAGATGGTAGAAGAAA	0.373000														69			33		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21549220	21549220	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:21549220G>A	uc009zzs.3	-	7	3421	c.3056C>T	c.(3055-3057)aCc>aTc	p.T1019I	LATS2_uc001unr.4_Missense_Mutation_p.T1019I	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	1019	AGC-kinase C-terminal.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCAGGCCTTGGTGCTACCTTC	0.547000														159			74		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179554672	179554672	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:179554672C>T	uc003mlq.3	-	4	948	c.651G>A	c.(649-651)cgG>cgA	p.R217R	RASGEF1C_uc003mlr.3_Silent_p.R217R|RASGEF1C_uc003mlp.4_Silent_p.R66R	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	217	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCGATGTGCCGCAGCCGCT	0.622000														17			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829697	61829697	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:61829697C>T	uc001jky.3	-	36	11280	c.10942G>A	c.(10942-10944)Gaa>Aaa	p.E3648K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3648					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATCCCCTTCCCCCTGGTCC	0.483000														41			23		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23549013	23549013	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:23549013C>T	uc002wtk.4	-	0	374	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	25						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGCATAGATCAGCAGGATCT	0.567000														15			11		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070619	32070619	+	RNA	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:32070619C>T	uc002ecv.1	+	0		c.72C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		TGCAAGGCTTCTGGATACACC	0.537000														35			22		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740150	176740150	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:176740150C>T	uc001gkz.3	+	16	5713	c.4549C>T	c.(4549-4551)Cct>Tct	p.P1517S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1517	Sushi 2.				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						CTGGTCTCTCCCTGAAGTCTA	0.527000														50			27		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954521	70954521	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:70954521C>T	uc001swb.4	-	14	3738	c.3708G>A	c.(3706-3708)agG>agA	p.R1236R	PTPRB_uc010sto.2_Silent_p.R1146R|PTPRB_uc010stp.2_Silent_p.R1146R|PTPRB_uc001swc.4_Silent_p.R1454R|PTPRB_uc001swa.4_Silent_p.R1366R|PTPRB_uc001swd.4_Silent_p.R1453R|PTPRB_uc009zrr.2_Silent_p.R1333R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1236	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1236M(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)			GCACGTACTTCCTTCCAGGAA	0.502000														35			18		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83858445	83858445	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:83858445G>A	uc003hnx.3	-	8	1917	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	LIN54_uc003hnz.3_Silent_p.I292I|LIN54_uc003hny.3_Silent_p.I112I|LIN54_uc010ijt.2_Silent_p.I424I|LIN54_uc010iju.2_Silent_p.I112I|LIN54_uc010ijv.2_Silent_p.I292I	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	513					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTCTGATGGGATTATGCTGT	0.294000														40			31		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577623	92577623	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:92577623A>G	uc001pdj.4	+	17	11107	c.11090A>G	c.(11089-11091)aAc>aGc	p.N3697S	FAT3_uc001pdi.4_Missense_Mutation_p.N137S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3697					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)				GCAGGCACCAACCAACTGGAC	0.587000										TCGA Ovarian(4;0.039)				15			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179641269G>A	uc021vsy.1	-	27	5547	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	TTN_uc021vsz.1_Silent_p.I1728I|TTN_uc021vta.1_Silent_p.I1728I|TTN_uc021vtb.1_Silent_p.I1728I|TTN_uc002unb.2_Silent_p.I1774I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1774	Ig-like 8.						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)			TGCAAGTAATGATACCACTGT	0.423000														26			30		0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6746479	6746479	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:6746479A>T	uc002mfs.3	+	10	1235	c.1169A>T	c.(1168-1170)gAt>gTt	p.D390V	TRIP10_uc010dux.2_Missense_Mutation_p.D334V|TRIP10_uc002mfr.3_Missense_Mutation_p.D334V|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	390	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GTGACCGAGGATTTTAGCCAC	0.532000														35			9		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120188029	120188029	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:120188029C>T	uc021qrk.1	+	11	1267	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	POU2F3_uc001pxc.3_Silent_p.N409N|POU2F3_uc010rzk.2_Silent_p.N363N|POU2F3_uc010rzl.2_Silent_p.N339N|POU2F3_uc001pxe.1_Silent_p.N194N	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	409	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTCAAAATAACTCCAAAGCAG	0.547000														51			42		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976683	41976683	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:41976683G>A	uc001cgz.4	-	8	7873	c.6660C>T	c.(6658-6660)gcC>gcT	p.A2220A	HIVEP3_uc001cha.4_Silent_p.A2219A|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.	2220					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)				CACTGACCCAGGCTGCGGTGG	0.711000														29			58		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931780	15931780	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:15931780G>A	uc002ddx.3	-	1	437	c.330C>T	c.(328-330)ttC>ttT	p.F110F	MYH11_uc002ddv.3_Silent_p.F110F|MYH11_uc002ddw.3_Silent_p.F110F|MYH11_uc002ddy.3_Silent_p.F110F|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Silent_p.F110F	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	110	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTAGCCCTGAGAAGTACCGCT	0.537000			T	CBFB	AML									48			13		0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366710	21366710	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:21366710C>T	uc010ecr.2	+	4	1754	c.1607C>T	c.(1606-1608)aCt>aTt	p.T536I	ZNF431_uc002npp.2_Missense_Mutation_p.T535I|ZNF431_uc010ecq.2_Missense_Mutation_p.T444I	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R536G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAAATTCATACTAGACAGAAA	0.323000														31			27		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766782	111766782	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:111766782C>T	uc010hqb.2	+	4	719	c.549C>T	c.(547-549)tcC>tcT	p.S183S	TMPRSS7_uc011bhr.1_Silent_p.S38S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	309					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTACGACTCCCTTTTGCCCA	0.473000														39			22		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484596	57484596	+	Missense_Mutation	SNP	A	T	T	rs121913494		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:57484596A>T	uc002xzw.3	+	8	2894	c.2609A>T	c.(2608-2610)cAg>cTg	p.Q870L	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.Q195L|GNAS_uc010gjq.3_Missense_Mutation_p.Q168L|GNAS_uc002xzx.3_Missense_Mutation_p.Q168L|GNAS_uc021wfn.1_Missense_Mutation_p.Q227L|GNAS_uc021wfo.1_Missense_Mutation_p.Q228L|GNAS_uc002yaa.3_Missense_Mutation_p.Q212L|GNAS_uc021wfp.1_Missense_Mutation_p.Q213L|GNAS_uc002yad.3_Missense_Mutation_p.Q118L|GNAS_uc002yae.3_Missense_Mutation_p.Q152L	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	227					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Q227L(10)|p.Q227R(8)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTGGGTGGCCAGCGCGATGAA	0.507000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				32			8		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812067	158812067	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158812067G>A	uc001fsz.1	+	1	324	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	42	DAPIN.				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			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)					AATGCAAGAGGAATACAACAG	0.348000														53			25		0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50589841	50589841	+	Nonsense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:50589841T>A	uc001vdu.3	+	0	452	c.212T>A	c.(211-213)tTa>tAa	p.L71*	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Nonsense_Mutation_p.L71*|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	71	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.L71S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CACCAGCTTTTATTACCCACT	0.383000														109			46		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990408	89990408	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:89990408G>A	uc003kju.3	+	32	7931	c.7835G>A	c.(7834-7836)aGg>aAg	p.R2612K	GPR98_uc003kjt.3_Missense_Mutation_p.R318K|GPR98_uc003kjv.3_Missense_Mutation_p.R212K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2612					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)		ATGATACACAGGACAGGGGGC	0.468000														95			68		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509291	26509291	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:26509291C>T	uc003nif.4	+	6	1527	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	490						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGCCCAGGACCTTTCTAAGG	0.547000														65			27		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31144518	31144518	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:31144518G>A	uc003tca.2	+	14	1502	c.1213G>A	c.(1213-1215)Ggt>Agt	p.G405S	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G433S|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G432S|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G384S|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G433S	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	405					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTTCTGAATGGTGAGGTAAG	0.527000														145			78		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041540	107041540	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:107041540C>T	uc010ywi.1	-	19	2940	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	961					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GGCCAAAAATCACACCACGGC	0.413000														214			71		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524576	37524576	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:37524576G>A	uc003aqv.1	-	9	1347	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	406					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGCAGGGGTTGGGGGGAAGAC	0.632000														51			34		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730554	141730554	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:141730554G>A	uc003vwy.3	+	11	1521	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	489	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTCATTGGGGAGGTAACTT	0.473000														53			28		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517316	158517316	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158517316A>C	uc010pil.2	-	0	580	c.580T>G	c.(580-582)Tgt>Ggt	p.C194G		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCATCCTCACAGGAGACGTTA	0.463000														31			11		0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4930757	4930757	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:4930757G>A	uc002mbp.3	+	2	770	c.477G>A	c.(475-477)acG>acA	p.T159T	UHRF1_uc002mbo.3_Silent_p.T146T|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript|MIR4747_uc021unk.1_5'Flank	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	146					DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTCGGGACACGAACATGGGGG	0.642000														24			17		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25775362	25775362	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:25775362C>T	uc001bkk.3	+	2	488	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	TMEM57_uc009vru.3_Missense_Mutation_p.P96S|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	96						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTTCATCCCCATACAGTG	0.348000														21			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943465	89943465	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:89943465G>A	uc003kju.3	+	16	3269	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1058	Calx-beta 8.				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)		GTTGAAAAAGGAGAAACGCTC	0.413000														61			33		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750329	142750329	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142750329G>A	uc011ksv.2	+	0	892	c.892G>A	c.(892-894)Gtg>Atg	p.V298M		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGTTAAAACAGTGCTACAGGG	0.532000														26			21		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177225096	177225096	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:177225096G>A	uc001glf.3	+	2	623	c.311G>A	c.(310-312)aGg>aAg	p.R104K	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	104						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						GCTCTGGAAAGGAAGGACTTC	0.493000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			21		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138375965	138375965	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:138375965G>A	uc002tva.1	+	17	3479	c.3479G>A	c.(3478-3480)tGg>tAg	p.W1160*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTAGAGTGGAGCACATGC	0.498000														21			5		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	436312	436312	+	Splice_Site	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:436312A>G	uc001ifp.3	-	12	1475	c.1385_splice	c.e12-1	p.G462_splice	DIP2C_uc009xhj.1_Splice_Site_p.G158_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	462						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTTTGGCCAACCTTGGAAAT	0.433000														46			21		0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41899486	41899486	+	Nonsense_Mutation	SNP	G	T	T	rs147498088		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:41899486G>T	uc003orl.3	+	5	1222	c.886G>T	c.(886-888)Gag>Tag	p.E296*		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	296					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCACTGTGCGAGTCTGGCAC	0.557000														67			52		2.23044e-30	2.25848e-30	1	1	0
MYH2	4620	broad.mit.edu	37	17	10441093	10441093	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:10441093G>A	uc010coi.3	-	14	1604	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F492F|MYH2_uc010coj.3_Silent_p.F492F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	492	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(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						TGTGGTGGTTGAAAAACTGTT	0.468000														80			43		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6479042	6479042	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6479042G>A	uc001mdh.3	-	4	795	c.399C>T	c.(397-399)gcC>gcT	p.A133A	TRIM3_uc001mdi.3_Silent_p.A133A|TRIM3_uc010raj.2_Silent_p.A14A|TRIM3_uc009yfd.3_Silent_p.A133A|TRIM3_uc010rak.1_Silent_p.A133A|TRIM3_uc001mdj.2_Silent_p.A14A	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	133					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCACACATGGCCGTCTCAC	0.612000														46			34		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715586	165715586	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:165715586C>T	uc003qum.4	-	1	261	c.225G>A	c.(223-225)acG>acA	p.T75T	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	75										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)		GCTGTAAGATCGTCTCCGGAG	0.617000														66			24		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192972	152192972	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152192972C>T	uc001ezt.1	-	2	1209	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	378					keratinization		calcium ion binding|protein binding	p.H377Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGTAGATCCATGTTGTCC	0.547000														118			29		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264737	46264737	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:46264737C>T	uc002xtk.3	+	11	1868	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	NCOA3_uc002xtl.3_Missense_Mutation_p.S536F|NCOA3_uc002xtn.3_Missense_Mutation_p.S536F|NCOA3_uc010ght.2_Missense_Mutation_p.S546F|NCOA3_uc002xtm.3_Missense_Mutation_p.S536F|NCOA3_uc010zyc.2_Missense_Mutation_p.S331F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	536	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGGGGACTTCCCTTTTATCT	0.478000														34			34		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907092	164907092	+	Silent	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:164907092T>G	uc003fej.4	-	1	1971	c.1527A>C	c.(1525-1527)ctA>ctC	p.L509L	SLITRK3_uc003fek.3_Silent_p.L509L|SLITRK3_uc021xgy.1_Silent_p.L509L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	509						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TATTGAGGAATAGCAGCTTCA	0.502000										HNSCC(40;0.11)				46			11		0	0	1	0	0
ZFP161	7541	broad.mit.edu	37	18	5292012	5292012	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:5292012G>A	uc002kmq.3	-	3	357	c.195C>T	c.(193-195)ttC>ttT	p.F65F	ZFP161_uc002kmr.3_Silent_p.F65F|ZFP161_uc010dkp.3_Silent_p.F65F|ZFP161_uc021ugn.1_Silent_p.F65F	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	65	BTB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						CAAGCTTCTTGAAAAGCTTTT	0.368000														67			12		0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48254252	48254252	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:48254252C>T	uc002phm.2	+	3	510	c.486C>T	c.(484-486)ccC>ccT	p.P162P	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	162				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GCGAGCTGCCCCGGGAGGTGC	0.687000														8			8		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924959	55924959	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55924959G>A	uc003pcs.3	-	27	2697	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	COL21A1_uc010jzz.3_Missense_Mutation_p.S207F|COL21A1_uc011dxg.2_Missense_Mutation_p.S195F|COL21A1_uc011dxh.2_Intron|COL21A1_uc003pcr.3_Missense_Mutation_p.S179F	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	822					cell adhesion	collagen|cytoplasm	structural molecule activity	p.L821P(1)|p.L821L(1)		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)			GCCATGTTGGGACAGGCAATG	0.498000														18			7		0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57022943	57022943	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:57022943G>A	uc002qnh.3	+	1	136	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGGCAAAAATGAATGTTGAAG	0.423000														25			12		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032354	46032354	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:46032354C>T	uc002zfo.1	+	0	359	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	113	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CACCTCCTCCCCCTGCCAACA	0.637000														90			57		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813853	108813853	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:108813853C>T	uc003dxl.3	-	6	573	c.486G>A	c.(484-486)caG>caA	p.Q162Q	MORC1_uc011bhn.2_Silent_p.Q162Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	162					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.Q162R(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGCAAATTTCTGGGGATCAT	0.323000														30			10		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875229	33875229	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:33875229G>A	uc021wck.1	-	3	1471	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	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.P106P	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	451								p.R450W(1)		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)			ACTGGAGGAGGGGCCGGGAGC	0.647000														30			11		0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103846971	103846971	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:103846971G>A	uc003ykx.3	-	7	1331	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	AZIN1_uc003yky.3_Missense_Mutation_p.H197Y	NM_015878	NP_680479	O14977	AZIN1_HUMAN	Homo sapiens antizyme inhibitor 1 (AZIN1), transcript variant 1, mRNA.	197					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CTCGAAACATGAAATCTGAAA	0.343000														26			14		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903959	70903959	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:70903959G>A	uc021vjc.1	-	12	1827	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.A521V|ADD2_uc002sgz.3_Missense_Mutation_p.A521V|ADD2_uc010fdt.2_Missense_Mutation_p.A521V|ADD2_uc002shc.2_Missense_Mutation_p.A521V|ADD2_uc010fdu.2_Missense_Mutation_p.A537V	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	521					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AATGACGCTCGCCAGGAGCTG	0.602000														35			24		0	0	1	0	0
NANP	140838	broad.mit.edu	37	20	25596961	25596961	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:25596961G>A	uc002wuy.3	-	1	411	c.347C>T	c.(346-348)gCc>gTc	p.A116V		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA.	116					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						AGTAAGCATGGCTTTGACGTC	0.453000														33			30		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735928	158735928	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158735928G>A	uc010piq.2	-	0	545	c.545C>T	c.(544-546)cCt>cTt	p.P182L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CAGCACAGGAGGGAAGTCACA	0.478000														103			14		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:128341887G>A	uc002top.3	+	12	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	512	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)		CCTCCTGGACGAAGAAAGCCG	0.602000														31			31		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111351991	111351991	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:111351991C>T	uc001try.4	-	4	345	c.274_splice	c.e4+1	p.G92_splice	MYL2_uc001trx.4_Splice_Site_p.G73_splice	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	92					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						cGACCTTACCCTTAAGTTTCT	0.428000														28			23		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216738	71216738	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:71216738G>A	uc001xmm.3	-	3	1062	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	MAP3K9_uc010ttk.2_Silent_p.G91G|MAP3K9_uc001xmk.3_Silent_p.G48G|MAP3K9_uc001xml.3_Silent_p.G354G	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	354	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGACTGCTAAGCCATCAATGC	0.493000														57			39		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085585	153085585	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153085585C>T	uc011dcy.2	+	10	1838	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	GRIA1_uc003lva.4_Missense_Mutation_p.S594F|GRIA1_uc003luy.4_Missense_Mutation_p.S594F|GRIA1_uc003luz.4_Missense_Mutation_p.S499F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S514F|GRIA1_uc011dcx.2_Missense_Mutation_p.S525F|GRIA1_uc011dcz.2_Missense_Mutation_p.S604F|GRIA1_uc010jia.1_Missense_Mutation_p.S574F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	594					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGTGGTTCTCCCTGGGAGCC	0.468000														46			26		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103214589	103214589	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:103214589G>A	uc022ajr.1	-	29	4621	c.4461C>T	c.(4459-4461)ggC>ggT	p.G1487G	RELN_uc022ajq.1_Silent_p.G1487G|RELN_uc010liz.3_Silent_p.G1487G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1487					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)		TTTTCCCAGGGCCATTGAAGT	0.468000														63			59		0	0	1	0	0
DQ586822	0	broad.mit.edu	37	15	84945522	84945522	+	RNA	SNP	C	T	T	rs141693469	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:84945522C>T	uc002bke.2	-	0		c.1728G>A								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		CCCCTGATTCCAGCCTGTGAA	0.542000														32			17		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532072	50532072	+	Silent	SNP	C	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50532072C>A	uc021pqb.1	+	0	1482	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	C10orf71_uc021pqa.1_Silent_p.S493S|C10orf71_uc021pqc.1_Silent_p.S494S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	494										endometrium(1)	1						GCTACAAGTCCAAAGCCCCTA	0.522000														13			9		2.74318e-10	2.76377e-10	1	1	0
UGT2B4	7363	broad.mit.edu	37	4	70361063	70361063	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:70361063G>A	uc003hek.4	-	0	564	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	UGT2B4_uc011cap.2_Missense_Mutation_p.R37C|UGT2B4_uc003hel.4_Missense_Mutation_p.R173C	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	173					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						GGAGAGAAGCGGAGGCTGTAG	0.458000														23			19		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416921	145416921	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:145416921G>A	uc001eni.2	+	3	1591	c.1266G>A	c.(1264-1266)tgG>tgA	p.W422*	HFE2_uc001enk.2_Nonsense_Mutation_p.W309*|HFE2_uc001enj.2_Nonsense_Mutation_p.W196*|HFE2_uc001enl.2_Nonsense_Mutation_p.W196*|HFE2_uc021oux.1_Nonsense_Mutation_p.W196*	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	422					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTTCTGTGGCTTTGCATTC	0.448000														90			29		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168441	49168441	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:49168441C>T	uc001ngy.3	-	18	2381	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E	FOLH1_uc001ngx.3_Missense_Mutation_p.E107K|FOLH1_uc009yly.3_Missense_Mutation_p.G692E|FOLH1_uc009ylz.3_Missense_Mutation_p.G661E|FOLH1_uc001ngz.3_Missense_Mutation_p.G676E|FOLH1_uc009yma.3_Missense_Mutation_p.G399E	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	707					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)	ATCATAAATTCCTGGGAATGA	0.443000														35			34		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993849	237993849	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:237993849G>A	uc001hyl.1	+	102	14795	c.14675G>A	c.(14674-14676)gGg>gAg	p.G4892E	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4892					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCATCTGTGGGATAGGCAAT	0.438000														56			100		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779856	18779856	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:18779856C>T	uc002njz.1	+	2	1676	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	550										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCGGCCAGTCAGAGGCCGGC	0.627000														48			23		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10602048	10602048	+	Silent	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:10602048T>C	uc010zre.2	+	6	672	c.492T>C	c.(490-492)aaT>aaC	p.N164N		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	164							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						TCCGGAGAAATGCTCTGAAAG	0.413000														35			8		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975831	10975831	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:10975831C>T	uc003bvz.3	+	11	1588	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	518					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGGATGATCATGACCCCTG	0.562000														57			29		0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15372031	15372031	+	Nonsense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:15372031T>A	uc003bzp.1	-	1	370	c.181A>T	c.(181-183)Aga>Tga	p.R61*	SH3BP5_uc003bzq.1_5'UTR|SH3BP5_uc003bzr.1_5'UTR	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	61	Glu-rich.				intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GTCTCCCGTCTGTTGATATCA	0.438000														15			12		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137778284	137778284	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:137778284G>A	uc004cfg.1	+	6	578	c.568G>A	c.(568-570)Gag>Aag	p.E190K	FCN2_uc004cfh.1_Missense_Mutation_p.E152K	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	190	Fibrinogen C-terminal.				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)		AGGAACCAGCGAGCTCCGTGT	0.547000														33			38		0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5254274	5254274	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5254274C>T	uc001maf.1	-	2	559	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	122			E -> V (in Manzanares; unstable; dbSNP:rs35790721).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGAATTCCTTGCCAAAG	0.512000														45			16		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733201	152733201	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152733201C>T	uc001fal.1	+	1	1195	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	KPRP_uc021ozf.1_Silent_p.L379L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	379	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACGTCCACTCCCAAGCTTCT	0.647000														45			31		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473448	19473448	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:19473448C>T	uc003jgd.3	-	12	2794	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.D754N|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	754					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTGCTGAATCCAGCGAGCTG	0.478000														50			28		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37101627	37101627	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:37101627C>T	uc002oek.3	+	3	328	c.215C>T	c.(214-216)cCa>cTa	p.P72L	ZNF382_uc010efa.3_Missense_Mutation_p.P23L|ZNF382_uc010efb.3_Missense_Mutation_p.P71L|ZNF382_uc002oel.3_Missense_Mutation_p.P72L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	72	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAATTTTTCCAAGTTACAGC	0.373000														37			20		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320605	7320605	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:7320605C>T	uc002ggt.1	+	6	2068	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	SPEM1_uc010vtw.1_5'Flank	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	665					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ATGACCGCTTCCCCGGGGACT	0.731000														11			6		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563936	55563936	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55563936C>T	uc010rim.2	+	0	905	c.905C>T	c.(904-906)gCt>gTt	p.A302V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTGAAGGATGCTTTCTGGAAG	0.408000														17			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047714	9047714	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9047714G>A	uc002mkp.3	-	4	34121	c.33917C>T	c.(33916-33918)gCc>gTc	p.A11306V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11308	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						TGTTGAAATGGCTGAGCTGGA	0.483000														25			16		0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895181	26895181	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:26895181G>A	uc003acr.2	-	7	1592	c.1218C>T	c.(1216-1218)acC>acT	p.T406T	TFIP11_uc003acs.2_Silent_p.T406T|TFIP11_uc003act.2_Silent_p.T406T	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	406					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGTCCTGCAGGGTTTCGAAGA	0.587000														50			26		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23932610	23932610	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:23932610G>A	uc001uon.2	-	6	1057	c.468C>T	c.(466-468)ctC>ctT	p.L156L	SACS_uc001uoo.2_Silent_p.L9L|SACS_uc001uop.1_5'Flank|SACS_uc001uoq.1_Silent_p.L9L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	156					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	p.A156A(1)		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)		TGTACACATAGAGAGCTGGCC	0.448000														86			39		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144759929	144759929	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:144759929C>T	uc003qkt.3	+	10	1382	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	UTRN_uc010khq.1_Silent_p.L430L	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	430	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCAGCAGCTCTCCGCCTGGT	0.483000														38			22		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601985	58601985	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:58601985G>A	uc001nnd.4	-	5	933	c.802C>T	c.(802-804)Cta>Tta	p.L268L	GLYATL2_uc009ymq.3_Silent_p.L268L	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	268						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGTGCCTGTAGGCTTTTCTCA	0.388000														29			27		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125941	58125941	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:58125941G>A	uc010rke.2	-	0	602	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTAAAACTTGATATAAGAAC	0.368000														49			8		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406992	35406992	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:35406992G>A	uc003xjr.2	+	1	614	c.286G>A	c.(286-288)Gag>Aag	p.E96K	UNC5D_uc003xjs.2_Missense_Mutation_p.E91K	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	96	Ig-like.				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)		CCATCAGAACGAGCACGTCTC	0.502000														26			8		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87076521	87076521	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:87076521C>T	uc003uiv.1	-	9	910	c.834_splice	c.e9-1	p.R278_splice	ABCB4_uc003uiw.1_Splice_Site_p.R278_splice|ABCB4_uc003uix.1_Splice_Site_p.R278_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	278	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTTTCTGATACCTACCAGAAA	0.338000														20			11		0	0	1	0	0
SAA2-SAA4	100528017	broad.mit.edu	37	11	18269487	18269487	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:18269487G>A	uc021qel.1	-	1	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SAA2-SAA4_uc009yhj.3_Silent_p.F24F|SAA2-SAA4_uc001mnz.4_Silent_p.F24F	NM_001199744	NP_001186673			Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA.																		CCTCGCCAAGGAACGAAAAGA	0.493000														45			9		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520626	33520626	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:33520626G>A	uc002hjd.2	-	0	787	c.701C>T	c.(700-702)tCt>tTt	p.S234F		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	234						integral to membrane											GCCTGGCACAGAGCCCAGCAG	0.627000														66			54		0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:49928133G>A	uc011dwp.2	-	1	82	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000														22			19		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98446275	98446275	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:98446275G>A	uc003upo.3	-	6	1239	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	TMEM130_uc011kiq.2_Silent_p.I331I|TMEM130_uc011kir.2_Silent_p.I350I|TMEM130_uc003upn.3_Silent_p.I248I	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	350						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATCACAGTGATAAGTGTAG	0.512000														77			42		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21523886	21523886	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:21523886A>G	uc002kuq.3	+	68	9247	c.9161A>G	c.(9160-9162)aAa>aGa	p.K3054R	LAMA3_uc002kur.3_Missense_Mutation_p.K2998R|LAMA3_uc002kus.4_Missense_Mutation_p.K1445R|LAMA3_uc002kut.4_Missense_Mutation_p.K1389R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3054	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)	GATGGGAAAAAATTGAGGATC	0.463000														29			24		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450905	41450905	+	Splice_Site	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:41450905C>T	uc002yyq.1	-	26	4873	c.4421_splice	c.e26-1	p.E1474_splice	DSCAM_uc002yyr.1_Splice_Site	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1474					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)				AACTGGGGCTCTGGGGGAGAA	0.597000														20			9		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527173	7527173	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:7527173C>T	uc010sge.2	-	12	3330	c.3304G>A	c.(3304-3306)Ggg>Agg	p.G1102R	CD163L1_uc001qsy.3_Missense_Mutation_p.G1092R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1092	SRCR 10.					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						GACCCCTCCCCAAAGTGAGCA	0.622000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			30		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788868	26788868	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:26788868G>A	uc001uqo.3	-	4	1496	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.S384F|RNF6_uc001uqq.3_Missense_Mutation_p.S384F|RNF6_uc010tdk.2_Missense_Mutation_p.S28F	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	384	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GGATCTGCTGGATTCTTCTCC	0.438000														45			26		0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219528027	219528027	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:219528027C>T	uc002vip.3	+	8	1524	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	BCS1L_uc002viq.3_Missense_Mutation_p.P393L|BCS1L_uc010fvu.3_Missense_Mutation_p.P393L|BCS1L_uc010fvv.3_Missense_Mutation_p.P393L|BCS1L_uc002vis.3_Missense_Mutation_p.P393L|BCS1L_uc021vwz.1_Missense_Mutation_p.P393L	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	393					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATCAGTCCTGCCCAGGTG	0.522000														19			53		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				60			93		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23436220	23436220	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:23436220G>A	uc002dlo.3	-	6	1056	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	287					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGGGCCCCCAGGGTCTGAATC	0.622000														16			4		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56369416C>T	uc002qmd.4	+	2	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_uc002qmf.3_Silent_p.I144I|NLRP4_uc010etf.3_Silent_p.I50I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000														88			34		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739525	55739525	+	Missense_Mutation	SNP	C	T	T	rs144695858		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55739525C>T	uc003pcq.3	-	0	851	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	BMP5_uc011dxf.2_Missense_Mutation_p.E47K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	47					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCGTCTTTCGTGGTTCCGT	0.453000														79			47		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085329	5085329	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:5085329G>A	uc010cla.1	-	1	2379	c.2223C>T	c.(2221-2223)acC>acT	p.T741T	ZNF594_uc021tol.1_Silent_p.T741T	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						CCTTGCTGAAGGTTTTCTCAC	0.443000														139			69		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823075	12823075	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:12823075G>A	uc002gnr.4	+	5	718	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	ARHGAP44_uc010vvk.2_Missense_Mutation_p.E131K|ARHGAP44_uc010vvl.2_Missense_Mutation_p.E131K|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.E131K|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	131	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACCACAGGTGGAAATCCCAAA	0.418000														16			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336847	126336847	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:126336847C>T	uc003ifj.4	+	4	6729	c.6729C>T	c.(6727-6729)tcC>tcT	p.S2243S	FAT4_uc011cgp.2_Silent_p.S541S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2243	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATACCTCCACGGTCAGCA	0.438000														57			13		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477685	88477685	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:88477685C>T	uc021rxh.1	+	0	494	c.494C>T	c.(493-495)tCt>tTt	p.S165F	GPR65_uc001xvv.3_Missense_Mutation_p.S165F	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	165					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GCCGAAAAGTCTAATTTTACT	0.408000														57			37		0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124519595	124519595	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:124519595G>A	uc001qan.3	-	4	815	c.642C>T	c.(640-642)atC>atT	p.I214I	SIAE_uc021qru.1_Silent_p.I179I	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	214						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		AGCTGGAGGCGATCAGCCCGA	0.527000														89			45		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240596	21240596	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:21240596T>A	uc002npj.3	+	4	1663	c.1482T>A	c.(1480-1482)ttT>ttA	p.F494L	ZNF430_uc002npk.3_Missense_Mutation_p.F493L	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCAAAGCTTTTAACCAATTCT	0.368000														22			16		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36180711	36180711	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:36180711G>A	uc021rid.1	+	47	7979	c.7445G>A	c.(7444-7446)aGg>aAg	p.R2482K	NBEA_uc021ric.1_Missense_Mutation_p.R2479K|NBEA_uc010abi.3_Missense_Mutation_p.R1138K|NBEA_uc010tee.1_Missense_Mutation_p.R275K|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R275K|NBEA_uc010teg.1_Missense_Mutation_p.R275K|NBEA_uc001uvd.3_Missense_Mutation_p.R39K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2482	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.N2481K(1)		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)		CGGATCAACAGGATGGTAAGA	0.373000														19			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080603	42080603	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:42080603G>C	uc002yyq.1	-	1	590	c.138C>G	c.(136-138)tgC>tgG	p.C46W	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.	46	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCTGCGGGGCAGGGCACCA	0.587000														109			49		0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320328	80320328	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:80320328G>A	uc002keq.3	+	1	612	c.302G>A	c.(301-303)gGg>gAg	p.G101E	TEX19_uc021ufp.1_Missense_Mutation_p.G101E	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	101						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TGGGGGCCAGGGACCCTGGCA	0.667000														55			27		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168609	16168609	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:16168609T>A	uc004cxj.3	+	1	1248	c.595T>A	c.(595-597)Tac>Aac	p.Y199N		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	199					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTGTGCCCCATACCCACACTC	0.483000														24			68		0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18570761	18570761	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:18570761C>T	uc002znp.4	+	5	1047	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PEX26_uc002znt.3_Missense_Mutation_p.L231F|PEX26_uc002znq.4_Missense_Mutation_p.L280F	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	280					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCTGCACTTCCTCTACAAGCT	0.622000														172			93		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004608	18004609	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:18004608_18004609GG>AA	uc002nhr.4	+	14	2201_2202	c.1854_1855GG>AA	c.(1852-1857)aaggag>aaAAag	p.E619K		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	619					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGGGCAGAAGGAGCTGGAGGG	0.599000														7			6		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419976	56419976	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:56419976C>T	uc002rzn.3	+	1	1143	c.641C>T	c.(640-642)tCc>tTc	p.S214F	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	214										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACCTCCAGCACTGGC	0.697000														30			29		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904090	60904090	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:60904090G>A	uc002ycq.3	-	33	4324	c.4257C>T	c.(4255-4257)ttC>ttT	p.F1419F	LAMA5_uc021wfw.1_Silent_p.F1419F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1419	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTTCGGCAGAACAGGGATG	0.657000														45			9		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942287	22942287	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22942287C>T	uc021urt.1	-	3	579	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AATATTTTTCCCTGGGTAGTT	0.284000														22			4		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736227	56736227	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56736227C>T	uc002qmq.3	-	1	355	c.189G>A	c.(187-189)agG>agA	p.R63R	ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmr.3_Silent_p.R63R|ZSCAN5A_uc002qms.1_Silent_p.R63R	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	63	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAGTGAGTTTCCTCAGAGCCT	0.542000														24			13		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530113	41530113	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:41530113C>T	uc003xok.3	-	37	4939	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.E1619K|ANK1_uc003xoj.3_Missense_Mutation_p.E1619K|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Missense_Mutation_p.E1660K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1619	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCACAAGTTCCAGAGAGCCC	0.567000														139			94		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114162	117114162	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:117114162G>A	uc003pxj.1	-	5	1946	c.1924C>T	c.(1924-1926)Ctc>Ttc	p.L642F	GPRC6A_uc003pxk.1_Missense_Mutation_p.L467F|GPRC6A_uc003pxl.1_Missense_Mutation_p.L571F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	642					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCAAAATTGAGGAAATGACAG	0.418000														54			27		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52667257	52667257	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:52667257G>A	uc001vge.3	-	12	1281	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	381							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTTTCTTGAGGAATAGGGTGA	0.418000														56			37		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515712	51515712	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:51515712G>A	uc010ric.2	+	0	431	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M143L(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTGCTAATGGGAGTGGTGTGG	0.453000														111			29		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195162	124195162	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:124195162C>T	uc003ypv.3	+	1	2080	c.66C>T	c.(64-66)gtC>gtT	p.V22V	FAM83A_uc003ypw.3_Silent_p.V22V|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Silent_p.V22V|FAM83A_uc003ypy.3_Silent_p.V22V|FAM83A_uc003ypz.3_Silent_p.V22V	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	22										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGGGTCCGGCCAGCCA	0.652000														10			14		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73726096	73726096	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:73726096C>T	uc010ttx.2	+	14	1991	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	PAPLN_uc001xnw.4_Missense_Mutation_p.P583S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P610S|PAPLN_uc010arm.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	610						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGGCCCCGCTCCCTCTCTGCA	0.701000														34			26		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542060	62542060	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:62542060G>A	uc001xfu.1	+	2	1141	c.944G>A	c.(943-945)gGa>gAa	p.G315E	SYT16_uc010tsd.1_Missense_Mutation_p.G315E	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	315										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AATAGCCGGGGATTTGAAGAT	0.512000														63			33		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003911	93003911	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:93003911C>T	uc022axs.1	-	6	1311	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R289Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.R289Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R279Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R316Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.R316Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.R289Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R327Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.R316Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.R316Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.R316Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.R316Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.R296Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.R316Q|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R279Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	316	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTGGGGTGTCGATAGGAGTC	0.552000														92			52		0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873225	13873225	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:13873225C>T	uc002mxc.1	+	8	903	c.686C>T	c.(685-687)gCt>gTt	p.A229V	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	229					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGCGGCTCTGCTGAAG	0.647000														30			24		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189064991	189064991	+	Splice_Site	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:189064991G>A	uc003izm.1	+	4	851	c.736_splice	c.e4-1	p.E246_splice	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	246					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTTACCCGTAGGAAGTGAGAG	0.463000														84			61		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75858174	75858174	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:75858174C>T	uc021zbv.1	-	20	4222	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_uc021zbw.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.3_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398000														33			23		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061295	73061295	+	RNA	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73061295G>A	uc004ebm.1	-	0		c.11294C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAGCTGGGCCGATCTTTTGAC	0.413000														6			28		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41572511	41572511	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:41572511G>A	uc003xok.3	-	14	1768	c.1684C>T	c.(1684-1686)Ccg>Tcg	p.P562S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.P562S|ANK1_uc003xoj.3_Missense_Mutation_p.P562S|ANK1_uc003xol.3_Missense_Mutation_p.P562S|ANK1_uc003xom.3_Missense_Mutation_p.P595S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	562	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCATTCGGGTGTGCGTCC	0.582000														40			32		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918274	15918274	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:15918274C>T	uc002nbq.2	-	0	663	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACCAGCACATCGTCTCCACAG	0.577000														55			36		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86499593	86499593	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:86499593T>C	uc001dlj.3	-	12	2039	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	655					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTCTCCAAAGTCACCTGGAAA	0.383000														16			3		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53573714	53573714	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:53573714T>C	uc004dsp.3	-	68	11111	c.10709A>G	c.(10708-10710)aAg>aGg	p.K3570R	HUWE1_uc004dsn.3_Missense_Mutation_p.K2378R|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3570					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGACACCATCTTAAAGTCTGT	0.483000														5			12		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957459	35957459	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:35957459G>A	uc003jjv.2	-	4	1099	c.906C>T	c.(904-906)tcC>tcT	p.S302S	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.S302S|UGT3A1_uc011cor.2_Silent_p.S268S	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	302						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTTCAACATGGAGCCAAAGG	0.478000														24			22		0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10350560	10350560	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:10350560C>T	uc021vds.1	+	2	346	c.317C>T	c.(316-318)cCc>cTc	p.P106L		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	Homo sapiens chromosome 2 open reading frame 48 (C2orf48), mRNA.	106										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		ACAGGGACACCCCTGGAGCGA	0.562000														31			15		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53449621	53449621	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:53449621C>T	uc001sbp.3	+	9	888	c.753C>T	c.(751-753)atC>atT	p.I251I	LOC283335_uc001sbk.1_5'Flank|TENC1_uc001sbl.3_Silent_p.I127I|TENC1_uc001sbm.3_Silent_p.I291I|TENC1_uc001sbn.3_Silent_p.I261I|TENC1_uc001sbo.1_Silent_p.I251I|TENC1_uc001sbq.3_5'Flank|TENC1_uc001sbr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	251	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ACAGCAAGATCTCTGCAGGGT	0.597000														35			51		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192414	152192414	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152192414C>T	uc001ezt.1	-	2	1767	c.1691G>A	c.(1690-1692)gGc>gAc	p.G564D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	564					keratinization		calcium ion binding|protein binding	p.Y563S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCTGAGCCATACCCATG	0.592000														196			28		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544403	115544403	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:115544403C>T	uc003ibs.2	+	1	889	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	UGT8_uc003ibt.2_Silent_p.L123L|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	123					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAACCATGCCCTGATCCAGGG	0.428000														45			42		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304275	3304275	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3304275C>T	uc002cun.1	-	1	833	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	265					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTGTCTTTTCCTCTAGAGTC	0.577000														135			46		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73919479	73919479	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:73919479G>A	uc002jqc.3	-	12	1441	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.P380P|FBF1_uc002jqd.1_Silent_p.P390P|FBF1_uc010dgr.2_5'Flank	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	389										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCCTGGAGGGGGGCAGCCCAG	0.652000														12			11		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270602	113270602	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:113270602G>A	uc001pny.3	+	7	2005	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	637							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CACGCCACGGGGAGGAGGCGG	0.637000														14			10		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47589110	47589110	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:47589110G>A	uc003gxk.1	+	21	3992	c.3828G>A	c.(3826-3828)atG>atA	p.M1276I	ATP10D_uc003gxl.1_Missense_Mutation_p.M524I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1276					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						TTGGAGCCATGTGTGTAACTT	0.423000														55			18		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403558	69403558	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:69403558G>A	uc021xov.1	-	5	1421	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	460					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AAGACTGCTCGATCCAGGGGC	0.428000														63			59		0	0	1	0	0
DLX1	1745	broad.mit.edu	37	2	172952845	172952845	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:172952845C>T	uc002uhl.3	+	2	826	c.628C>T	c.(628-630)Cca>Tca	p.P210S	DLX1_uc002uhm.3_3'UTR	NM_178120	NP_835221	P56177	DLX1_HUMAN	Homo sapiens distal-less homeobox 1 (DLX1), transcript variant 1, mRNA.	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCTGGCTCCCCACCCGTGCC	0.617000														45			39		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056654	153056655	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153056654_153056655GG>AA	uc011dcy.2	+	6	1019_1020	c.992_993GG>AA	c.(991-993)ggg>gAA	p.G331E	GRIA1_uc003lva.4_Missense_Mutation_p.G321E|GRIA1_uc003luy.4_Missense_Mutation_p.G321E|GRIA1_uc003luz.4_Missense_Mutation_p.G226E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G241E|GRIA1_uc011dcx.2_Missense_Mutation_p.G252E|GRIA1_uc011dcz.2_Missense_Mutation_p.G331E|GRIA1_uc010jia.1_Missense_Mutation_p.G301E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	321					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.W331C(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGAATGCTGGGGATTGTCTGG	0.564000														19			10		0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41752707	41752707	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:41752707G>A	uc011duf.1	+	4	523	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	52	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGGAGGAGCGGGCCGAGCTG	0.597000														48			31		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65479980	65479980	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:65479980C>T	uc011moz.2	+	18	3374	c.3237C>T	c.(3235-3237)ttC>ttT	p.F1079F	HEPH_uc004dwn.3_Silent_p.F1028F|HEPH_uc004dwo.3_Silent_p.F758F|HEPH_uc010nkr.3_Silent_p.F836F|HEPH_uc011mpa.2_Silent_p.F1028F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1025	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.E1078D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGATCTGTTCCCAGGGACTT	0.522000														9			32		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649221	47649221	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:47649221C>T	uc010jzj.1	+	5	927	c.926C>T	c.(925-927)tCt>tTt	p.S309F	GPR111_uc003oyy.3_Missense_Mutation_p.S241F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACTTTTTCTATGAGAATT	0.393000														76			57		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351580	43351580	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43351580G>A	uc002iiw.1	-	8	1568	c.1459C>T	c.(1459-1461)Cca>Tca	p.P487S	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.P72S	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	488	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGGTCCTCTGGGAGACAGCCC	0.622000														4			6		0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93264164	93264164	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:93264164A>G	uc001yaz.1	+	1	564	c.382A>G	c.(382-384)Aat>Gat	p.N128D		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	128					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGATTTTCTTAATAGTTCACA	0.438000			T	RET	papillary thyroid									38			29		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157613	155157613	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:155157613C>T	uc003inw.2	-	24	6826	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2276	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCATTTTTTCATAATCCAGA	0.343000														80			36		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266996	16266996	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:16266996G>A	uc010gqp.2	-	8	1505	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.P204S|POTEH_uc002zlj.1_Missense_Mutation_p.P320S	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	485										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCCTTGGTGGAATTAATCCA	0.438000														317			18		0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73766958	73766958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:73766958C>T	uc001jsn.3	+	2	609	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	57					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCAGATTCCCCAAGCTCTAGC	0.572000														25			11		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95183143	95183143	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:95183143G>A	uc003ygh.2	-	7	979	c.854C>T	c.(853-855)tCa>tTa	p.S285L	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.S285L	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	285	Cadherin 3.					integral to membrane	calcium ion binding			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)			CTGGTCAATTGAAAATGGGAA	0.458000														63			44		0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43206869	43206869	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:43206869C>T	uc003bdd.2	-	11	1366	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	ARFGAP3_uc010gzf.2_Silent_p.E338E	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	382					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTTTGCTGGTCTCTTTTTTCC	0.428000														62			31		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760228	38760228	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38760228G>A	uc003ciq.3	-	19	3597	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1199					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGCATCTCGAACACAAAGA	0.498000														50			26		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558676	118558676	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:118558676C>T	uc001ehk.2	-	28	4267	c.4199G>A	c.(4198-4200)gGa>gAa	p.G1400E		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1400						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCCGATTTCCTTCAGGTGT	0.478000														19			39		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51129186	51129186	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:51129186T>C	uc002pst.3	-	4	2004	c.1370A>G	c.(1369-1371)aAc>aGc	p.N457S	SYT3_uc002psv.3_Missense_Mutation_p.N457S|SYT3_uc010ycd.2_Missense_Mutation_p.N457S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	457	C2 2.					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)		CGCTTTGAGGTTAGAGGCTTT	0.622000														24			14		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														141			5		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150695766	150695766	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:150695766G>A	uc003wif.3	+	6	1110	c.814G>A	c.(814-816)Gag>Aag	p.E272K	NOS3_uc011kuy.2_Missense_Mutation_p.E66K|NOS3_uc011kva.2_Missense_Mutation_p.E272K|NOS3_uc011kuz.2_Missense_Mutation_p.E272K|NOS3_uc011kvb.2_Missense_Mutation_p.E272K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	272	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAGATCACCGAGGTGGGCAC	0.652000														9			6		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967819	54967819	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:54967819G>A	uc010igp.1	+	1	909	c.645G>A	c.(643-645)ctG>ctA	p.L215L	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	215						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCAACTCCTGGAGCTGGAGA	0.557000														48			34		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50856632	50856632	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50856632C>T	uc001jhz.2	+	8	1514	c.1361C>T	c.(1360-1362)aCt>aTt	p.T454I	CHAT_uc001jhv.1_Missense_Mutation_p.T336I|CHAT_uc001jhx.1_Missense_Mutation_p.T336I|CHAT_uc001jhy.1_Missense_Mutation_p.T336I|CHAT_uc001jia.2_Missense_Mutation_p.T372I|CHAT_uc010qgs.1_Missense_Mutation_p.T336I	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	454					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTGCAGTGCACTGAGCATCTG	0.592000														17			7		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439446	145439446	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:145439446C>T	uc003lnt.3	+	8	1811	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	SH3RF2_uc011dbl.1_Missense_Mutation_p.P525S|SH3RF2_uc011dbm.1_Missense_Mutation_p.P10S|SH3RF2_uc003lnu.3_Missense_Mutation_p.P16S|SH3RF2_uc011dbn.1_Missense_Mutation_p.P16S|SH3RF2_uc011dbo.2_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	525							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCAGAGACCCCTCCAGTC	0.612000														41			23		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53085019	53085019	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:53085019C>T	uc003xqz.2	-	4	558	c.402G>A	c.(400-402)ggG>ggA	p.G134G	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.G99G|ST18_uc011lds.1_Silent_p.G39G|ST18_uc003xra.2_Silent_p.G134G|ST18_uc003xrb.2_Silent_p.G134G	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G134G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTCAAATTTCCCCAAGTGCA	0.383000														27			22		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047584	3047584	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:3047584C>T	uc022aqr.1	-	33	5638	c.5248G>A	c.(5248-5250)Gga>Aga	p.G1750R	CSMD1_uc011kwj.2_Missense_Mutation_p.G1143R|CSMD1_uc003wqe.3_Missense_Mutation_p.G907R|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1751	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCTCCTTCCGTATCTGGGC	0.557000														9			3		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224922315	224922315	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:224922315T>G	uc001hos.1	+	4	1060	c.362T>G	c.(361-363)gTg>gGg	p.V121G		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	121					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		p.P120L(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GACCCACCGGTGGTCATGAAT	0.512000														43			58		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086458	56086458	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:56086458C>T	uc010rjf.2	+	0	676	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L226L(1)		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)					TGTAGCCATTCTCAGGATGAA	0.393000														28			7		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944966	55944966	+	Silent	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55944966C>T	uc010qhy.1	-	12	1778	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	PCDH15_uc010qhq.2_Silent_p.Q461Q|PCDH15_uc010qhr.2_Silent_p.Q456Q|PCDH15_uc021pqv.1_Silent_p.Q456Q|PCDH15_uc021pqw.1_Silent_p.Q468Q|PCDH15_uc010qht.2_Silent_p.Q463Q|PCDH15_uc021pqx.1_Silent_p.Q456Q|PCDH15_uc001jjv.1_Silent_p.Q434Q|PCDH15_uc021pqy.1_Silent_p.Q456Q|PCDH15_uc021pqz.1_Silent_p.Q434Q|PCDH15_uc010qhv.1_Silent_p.Q456Q|PCDH15_uc010qhw.1_Silent_p.Q419Q|PCDH15_uc010qhx.1_Silent_p.Q456Q|PCDH15_uc010qhz.1_Silent_p.Q456Q|PCDH15_uc010qia.1_Silent_p.Q434Q|PCDH15_uc001jju.1_Silent_p.Q456Q|PCDH15_uc010qib.1_Silent_p.Q434Q|PCDH15_uc001jjw.3_Silent_p.Q456Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	456	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATACCAGTCTGTGTGACGG	0.393000										HNSCC(58;0.16)				51			28		0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500589	44500589	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:44500589C>T	uc010xwt.1	+	5	797	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	ZNF155_uc002oxy.1_Missense_Mutation_p.H194Y|ZNF155_uc002oxz.1_Missense_Mutation_p.H194Y	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCTTCATGTTCATCAGAGAGT	0.423000														109			66		0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416552	187416552	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:187416552G>A	uc003fro.1	-	1	841	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	138					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ACGTGGATGCGGTACTGGCCA	0.647000														21			8		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1656719	1656719	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:1656719G>A	uc021xkk.1	-	3	1066	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	FAM53A_uc010ibw.3_Silent_p.L290L|FAM53A_uc021xkl.1_Silent_p.L290L	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	290						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GTCATTTTCAGGAAGTCCAAG	0.622000														38			12		0	0	1	0	0
SELRC1	65260	broad.mit.edu	37	1	53153412	53153412	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:53153412G>A	uc001cui.2	-	2	716	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA.	226							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GTTAAGGGTTGGACACCTTTC	0.517000														18			32		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676967	234676967	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:234676967G>A	uc002vuw.3	+	3	1189	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	UGT1A1_uc010zmv.1_Missense_Mutation_p.D393N|UGT1A1_uc002vup.3_Missense_Mutation_p.D393N|UGT1A1_uc002vuq.3_Missense_Mutation_p.D393N|UGT1A1_uc002vur.3_Missense_Mutation_p.D393N|UGT1A1_uc010zmw.1_Missense_Mutation_p.D393N|UGT1A1_uc002vus.3_Missense_Mutation_p.D393N|UGT1A1_uc010zmx.1_Missense_Mutation_p.D393N|UGT1A1_uc002vut.3_Missense_Mutation_p.D393N|UGT1A1_uc002vuu.3_Missense_Mutation_p.D128N|UGT1A1_uc010zmy.1_Missense_Mutation_p.D395N|UGT1A1_uc002vuv.4_Missense_Mutation_p.D395N|UGT1A1_uc010zmz.1_Missense_Mutation_p.D397N|UGT1A1_uc010zna.1_Missense_Mutation_p.D397N|UGT1A1_uc002vux.3_Missense_Mutation_p.D397N|UGT1A1_uc010znb.1_Missense_Mutation_p.D397N|UGT1A1_uc002vuy.3_Missense_Mutation_p.D397N|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Missense_Mutation_p.D396N|UGT1A1_uc002vvb.3_Missense_Mutation_p.D396N	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	396					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)	CTTGTTTGGTGATCAGATGGA	0.468000														23			51		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60759730	60759730	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:60759730C>T	uc002jad.3	+	19	3340	c.2938C>T	c.(2938-2940)Ctc>Ttc	p.L980F	MRC2_uc002jae.3_Missense_Mutation_p.L51F|MRC2_uc002jaf.3_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	980	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GATCCAGTTCCTCAACAAGGT	0.612000														10			3		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11236928	11236928	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:11236928C>T	uc003jfa.1	-	9	1781	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	CTNND2_uc010itt.2_Missense_Mutation_p.G455R|CTNND2_uc011cmy.1_Missense_Mutation_p.G209R|CTNND2_uc011cmz.1_Missense_Mutation_p.G113R|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G113R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	546					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTCTCCATCCAAATTCTCTG	0.478000														75			40		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314241	153314241	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:153314241G>A	uc001fbo.3	-	5	552	c.487C>T	c.(487-489)Cct>Tct	p.P163S	PGLYRP4_uc001fbp.3_Missense_Mutation_p.P159S	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	163					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCAGCAGGGCTGGGACTG	0.547000														65			40		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46506328	46506328	+	Silent	SNP	G	A	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:46506328G>A	uc003cpq.3	-	0	271	c.30C>T	c.(28-30)ttC>ttT	p.F10F	LTF_uc003fzr.3_5'Flank|LTF_uc010hjh.3_Silent_p.F10F|LTF_uc003cpr.3_Intron	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	10					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GGGCCCCGAGGAACAGCAGGA	0.642000														40			9		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220166912	220166912	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:220166912T>G	uc002vkz.3	-	5	1182	c.941A>C	c.(940-942)aAg>aCg	p.K314T	PTPRN_uc010zlc.2_Missense_Mutation_p.K224T|PTPRN_uc002vla.3_Missense_Mutation_p.K314T	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	314					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TAGTCCTTCCTTCTCATAGCC	0.642000														18			38		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315705	50315705	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50315705C>T	uc001jhf.2	-	1	420	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VSTM4_uc001jhh.2_Missense_Mutation_p.E131K	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	131	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGCTGATTTCCTGGACTCTG	0.617000														43			31		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25967158	25967184	+	In_Frame_Del	DEL	GCTGCAGCAGCTGCGGCGGCAGCGGCA	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:25967158_25967184delGCTGCAGCAGCTGCGGCGGCAGCGGCA	uc002rgs.2	-	11	2243_2269	c.2022_2048delTGCCGCTGCCGCCGCAGCTGCTGCAGC	c.(2020-2049)gctgccgctgccgccgcagctgctgcagcc>gcc	p.674_683AAAAAAAAAA>A	ASXL2_uc002rgt.1_In_Frame_Del_p.414_423AAAAAAAAAA>A	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	674	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGAGGCGGCTGCAGCAGCTGCGGCGGCAGCGGCAGCTGCTGCCC	0.599													---	71	---	---	17	---					
ERCC3	2071	broad.mit.edu	37	2	128047316	128047317	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:128047316_128047317delAG	uc002toh.1	-	4	700_701	c.605_606delCT	c.(604-606)tctfs	p.S202fs	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Frame_Shift_Del_p.S138fs|ERCC3_uc002tog.1_Frame_Shift_Del_p.S138fs|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_3'UTR	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	202					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTCCCCTTCAGAGTTTCTTAA	0.535			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	42	---	---	10	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140052285delT	uc003lgt.3	-	2	393	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(2)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													---	4	---	---	4	---					
KCNS2	3788	broad.mit.edu	37	8	99440867	99440879	+	Frame_Shift_Del	DEL	CCCTGGCGAGGAC	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:99440867_99440879delCCCTGGCGAGGAC	uc003yin.3	+	1	1010_1022	c.660_672delCCCTGGCGAGGAC	c.(658-672)aaccctggcgaggacfs	p.N220fs	KCNS2_uc022azb.1_Frame_Shift_Del_p.N220fs	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	220						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)			GCCAGGGCAACCCTGGCGAGGACCCTAGGTTCG	0.554													---	88	---	---	12	---					
CPSF1	29894	broad.mit.edu	37	8	145622421	145622421	+	Splice_Site	DEL	C	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:145622421delC	uc003zcj.3	-	23	2667	c.2592_splice	c.e23+1	p.L864_splice		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	864					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCGCACTCACCAGCAGGTAG	0.741													---	4	---	---	2	---					
CDKN2A	1029	broad.mit.edu	37	9	21974699	21974700	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:21974699_21974700delCT	uc003zpk.3	-	0	433_434	c.127_128delAG	c.(127-129)agtfs	p.S43fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Frame_Shift_Del_p.S43fs|CDKN2A_uc010miu.3_Frame_Shift_Del_p.S43fs|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	43					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S43I(12)|p.S43fs*76(2)|p.V28_V51del(2)|p.N42Y(1)|p.0(1)|p.N42T(1)|p.S43R(1)|p.N42D(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCGTAACTATTCGGTGCG	0.688		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	62	---	---	75	---					
CCDC90B	60492	broad.mit.edu	37	11	82985684	82985685	+	In_Frame_Ins	INS	-	AAA	AAA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:82985684_82985685insAAA	uc001pae.3	-	3	785_786	c.423_424insTTT	c.(421-426)insTTT	p.141_142insF	CCDC90B_uc001pac.3_In_Frame_Ins_p.40_41insF|CCDC90B_uc001pad.3_In_Frame_Ins_p.40_41insF|CCDC90B_uc001paf.3_In_Frame_Ins_p.132_133insF	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	141						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				tGTATCACCTCATTCTCTGCTC	0.317													---	11	---	---	10	---					
RYR3	6263	broad.mit.edu	37	15	34129961	34129961	+	Frame_Shift_Del	DEL	C	-	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:34129961delC	uc001zhi.3	+	88	11850	c.11780delC	c.(11779-11781)accfs	p.T3927fs	RYR3_uc010bar.3_Frame_Shift_Del_p.T3922fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3927	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCTCAGACACCTTCAAAGAA	0.388													---	10	---	---	7	---					
UBFD1	56061	broad.mit.edu	37	16	23578329	23578330	+	Frame_Shift_Ins	INS	-	G	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:23578329_23578330insG	uc002dlv.3	+	5	960_961	c.758_759insG	c.(757-759)atgfs	p.M253fs		NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	253										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAATTGCCCATGGGCTCCATAA	0.480													---	48	---	---	38	---					
