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
FUT2	2524	broad.mit.edu	37	19	49206744	49206744	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49206744G>A	uc002pke.4	+	1	642	c.531G>A	c.(529-531)gaG>gaA	p.E177E	FUT2_uc010emc.3_Silent_p.E177E|FUT2_uc021uwx.1_Silent_p.E177E	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	177					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TGCGGGAGGAGGCCCAGAAGT	0.647000														27			15		0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82544227	82544227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82544227C>T	uc003uhx.2	-	6	13364	c.13075G>A	c.(13075-13077)Gaa>Aaa	p.E4359K	PCLO_uc003uhv.2_Missense_Mutation_p.E4359K|PCLO_uc010lec.3_Missense_Mutation_p.E1324K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4290					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						CTTTCTTCTTCAGAATTCTGG	0.502000														60			23		0	0	0.002780	0	0
BCAS3	54828	broad.mit.edu	37	17	59067396	59067396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:59067396C>T	uc002iyv.4	+	14	1395	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	BCAS3_uc010wow.1_Missense_Mutation_p.S216F|BCAS3_uc002iyu.4_Missense_Mutation_p.S429F|BCAS3_uc002iyw.4_Missense_Mutation_p.S425F|BCAS3_uc002iyx.1_Missense_Mutation_p.S244F|BCAS3_uc002iyy.4_Missense_Mutation_p.S200F|BCAS3_uc002iyz.4_5'UTR|BCAS3_uc002iza.4_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	429						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGGGGTACTTCCCACGTTTTC	0.478000														14			75		0	0	0.003610	0	0
OR13C2	392376	broad.mit.edu	37	9	107367600	107367600	+	Silent	SNP	G	A	A	rs148118547		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:107367600G>A	uc011lvq.2	-	0	309	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGGCCAAGCCGAGGAACATCT	0.512000														9			46		0	0	0.003610	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541233	133541233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:133541233G>A	uc002ttp.3	-	13	3525	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1051							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTGTTTGGCGAGGAGAGGTT	0.557000														25			25		0	0	0.003954	0	0
SSPO	23145	broad.mit.edu	37	7	149474909	149474909	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:149474909G>A	uc010lpk.3	+	4	708	c.708G>A	c.(706-708)ggG>ggA	p.G236G	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	236	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TAACACCCGGGGACCGCTGCC	0.687000														3			3		0	0	0.004672	0	0
AGRN	375790	broad.mit.edu	37	1	984991	984992	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:984991_984992CC>TT	uc001ack.2	+	25	4610_4611	c.4560_4561CC>TT	c.(4558-4563)atccgt>atTTgt	p.R1521C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1521	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGGGTGCATCCGTTTGCTGGA	0.713000														3			4		0	0	0.004672	0	0
CDH13	1012	broad.mit.edu	37	16	83065665	83065665	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:83065665A>G	uc010vns.2	+	3	613	c.349A>G	c.(349-351)Agc>Ggc	p.S117G	CDH13_uc021tlw.1_Missense_Mutation_p.S70G|CDH13_uc010chh.3_Missense_Mutation_p.S70G|CDH13_uc002fgx.3_Missense_Mutation_p.S70G|CDH13_uc010vnt.2_Intron|CDH13_uc010vnu.2_Missense_Mutation_p.S70G	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	70					Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGAGGTCTCGAGCCCATACTT	0.512000														6			7		0	0	0.003080	0	0
LYPD4	147719	broad.mit.edu	37	19	42342257	42342257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42342257G>A	uc002orp.1	-	3	1274	c.290C>T	c.(289-291)tCc>tTc	p.S97F	LYPD4_uc002orq.1_Missense_Mutation_p.S62F	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	97						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TCCGGGTGGGGAAACAAGGTA	0.542000														35			20		0	0	0.002299	0	0
COPG2	26958	broad.mit.edu	37	7	130297025	130297025	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:130297025G>T	uc003vqh.1	-	7	667	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	193					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GACAATACCTGGACCATAATA	0.368000														662			11		0.00136819	0.00285024	0.001368	1	0
SEZ6L	23544	broad.mit.edu	37	22	26688992	26688992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26688992C>T	uc003acb.3	+	1	911	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	SEZ6L_uc003acd.3_Missense_Mutation_p.P239S|SEZ6L_uc011akd.2_Missense_Mutation_p.P239S|SEZ6L_uc003ace.3_Missense_Mutation_p.P239S|SEZ6L_uc011akc.2_Missense_Mutation_p.P239S|SEZ6L_uc003acc.3_Missense_Mutation_p.P239S|SEZ6L_uc003acf.1_Missense_Mutation_p.P12S|SEZ6L_uc010gvc.1_Missense_Mutation_p.P12S	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	239						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGACACCAGCCCCATGGCCCT	0.632000														10			14		0	0	0.003163	0	0
ANO2	57101	broad.mit.edu	37	12	5744481	5744481	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:5744481C>T	uc001qnm.2	-	16	1725	c.1653G>A	c.(1651-1653)gtG>gtA	p.V551V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	556						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATACACTATCACCCCAAAGA	0.488000														16			14		0	0	0.004007	0	0
NEB	4703	broad.mit.edu	37	2	152410366	152410366	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152410366C>T	uc021vrb.1	-	96	14528	c.14499G>A	c.(14497-14499)agG>agA	p.R4833R	NEB_uc002txr.3_Silent_p.R1299R|NEB_uc002txu.3_Silent_p.R6534R|NEB_uc021vrc.1_Silent_p.R6534R|NEB_uc010fnx.3_Silent_p.R4821R|NEB_uc021vrd.1_Silent_p.R4833R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4833					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGTGACTTTCCTGACGTGAT	0.552000														23			24		0	0	0.002780	0	0
ABCC8	6833	broad.mit.edu	37	11	17426127	17426127	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17426127G>A	uc001mnc.3	-	27	3615	c.3489C>T	c.(3487-3489)ttC>ttT	p.F1163F		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1163	ABC transmembrane type-1 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)	GGGCCACGAGGAACACAGGTG	0.627000														75			45		0	0	0.003610	0	0
PCSK5	5125	broad.mit.edu	37	9	78547391	78547391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:78547391G>A	uc004akc.2	+	1	827	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PCSK5_uc004ajy.2_Missense_Mutation_p.E97K|PCSK5_uc004ajz.3_Missense_Mutation_p.E97K|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.	97					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						CATTTCAATGGAACCAAAGGT	0.478000														6			38		0	0	0.005524	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058381	79058381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:79058381G>A	uc002bej.4	-	18	4083	c.3872C>T	c.(3871-3873)tCt>tTt	p.S1291F	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1291					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGAAGGAGAGAAGCCACCCC	0.652000														13			7		0	0	0.001855	0	0
XYLB	9942	broad.mit.edu	37	3	38438647	38438647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38438647C>T	uc003cic.2	+	16	1544	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y	XYLB_uc011ayp.1_Missense_Mutation_p.H342Y|XYLB_uc003cid.1_Missense_Mutation_p.H401Y	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	479					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CCGAGCTTTTCATGGTAGGTT	0.537000														26			14		0	0	0.003163	0	0
HAP1	9001	broad.mit.edu	37	17	39883651	39883651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39883651C>T	uc002hxm.1	-	8	1342	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	444	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			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)			AGCATGCCCCCACAATCCATG	0.617000														7			39		0	0	0.001287	0	0
HOXC6	3223	broad.mit.edu	37	12	54423580	54423580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54423580C>T	uc001sev.3	+	1	654	c.542C>T	c.(541-543)aCc>aTc	p.T181I	HOXC6_uc001ses.3_Missense_Mutation_p.T99I|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron	NM_004503	NP_710160	P09630	HXC6_HUMAN	Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA.	181					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGCCTGACCGAGCGACAG	0.572000														48			31		0	0	0.004878	0	0
LGSN	51557	broad.mit.edu	37	6	63990145	63990145	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:63990145G>A	uc003peh.3	-	3	1345	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	437					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GACCAGCCAAGACCTCATTAC	0.463000														45			33		0	0	0.002096	0	0
MSH4	4438	broad.mit.edu	37	1	76378490	76378490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:76378490G>A	uc001dhd.2	+	19	2844	c.2729G>A	c.(2728-2730)cGa>cAa	p.R910Q		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	910					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GACAGTTTACGAATATATTTA	0.388000								Mismatch excision repair (MMR)						23			20		0	0	0.001882	0	0
GPR133	283383	broad.mit.edu	37	12	131620581	131620581	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:131620581G>A	uc010tbm.2	+	23	2923	c.2364_splice	c.e23-1	p.K788_splice	GPR133_uc001uit.4_Splice_Site_p.K756_splice|GPR133_uc009zyo.3_Splice_Site_p.K38_splice|GPR133_uc009zyp.3_Splice_Site	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	756					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTTCTCTCCAGGTTGACAGCC	0.612000														13			5		0	0	0.003080	0	0
IDO1	3620	broad.mit.edu	37	8	39780107	39780107	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39780107C>T	uc003xnm.3	+	5	588	c.474C>T	c.(472-474)gaC>gaT	p.D158D		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	158					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTGATGGAGACTGCAGTAAAG	0.368000														10			41		0	0	0.003610	0	0
VWF	7450	broad.mit.edu	37	12	6125315	6125315	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:6125315G>A	uc001qnn.1	-	30	5645	c.5395C>T	c.(5395-5397)Ctg>Ttg	p.L1799L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1799	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCGTGACCAGGATGACCACC	0.557000														21			18		0	0	0.001882	0	0
PPP1CC	5501	broad.mit.edu	37	12	111162533	111162533	+	Missense_Mutation	SNP	A	C	C	rs11558237		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111162533A>C	uc001tru.3	-	3	726	c.455T>G	c.(454-456)tTc>tGc	p.F152C	PPP1CC_uc021rdx.1_Missense_Mutation_p.F152C	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	152			F -> S (in dbSNP:rs11558237).		cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						ACAGTCTGTGAAAGTTTTCCA	0.363000														46			25		0	0	0.001271	0	0
TBX21	30009	broad.mit.edu	37	17	45822198	45822198	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45822198C>T	uc002ilv.1	+	5	1285	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	358					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTCTCCTCTCCTACCCAACC	0.577000														14			65		0	0	0.003610	0	0
MANSC1	54682	broad.mit.edu	37	12	12483157	12483157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12483157G>A	uc001rai.1	-	3	1358	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	MANSC1_uc010shm.1_Missense_Mutation_p.S301F|MANSC1_uc001raj.1_Missense_Mutation_p.S333F	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	367						integral to membrane		p.S367F(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GCCCTGGGAGGAACTGCCTGG	0.483000														30			19		0	0	0.000743	0	0
GRINA	2907	broad.mit.edu	37	8	145065437	145065437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145065437C>T	uc003zan.1	+	1	212	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	GRINA_uc003zao.1_Missense_Mutation_p.P16S|GRINA_uc003zap.1_Missense_Mutation_p.P16S	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	16	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACTATCCTCCCCCCAACCC	0.622000														18			16		0	0	0.004007	0	0
PHF17	79960	broad.mit.edu	37	4	129792669	129792669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:129792669C>T	uc011cgy.2	+	10	2095	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	PHF17_uc003igk.3_Missense_Mutation_p.P594L|PHF17_uc003igl.3_Missense_Mutation_p.P582L	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	594					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	p.K593R(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGAAAAAGCCCCATAAGCGA	0.502000														35			13		0	0	0.001368	0	0
GPR110	266977	broad.mit.edu	37	6	46977795	46977796	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46977795_46977796GG>AA	uc003oyt.3	-	10	1574_1575	c.1375_1376CC>TT	c.(1375-1377)ccc>TTc	p.P459F	GPR110_uc011dwl.2_Missense_Mutation_p.P147F	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCCTCTGATGGGAATAGATGTA	0.441000														44			23		0	0	0.004672	0	0
IFNA13	3447	broad.mit.edu	37	9	21367995	21367995	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21367995G>A	uc003zpa.2	-	0	81	c.15C>T	c.(13-15)ccC>ccT	p.P5P		NM_006900	NP_008831	P01562	IFNA1_HUMAN	Homo sapiens interferon, alpha 13 (IFNA13), mRNA.	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GTAAAGCAAAGGGCGAGGCCA	0.547000														9			15		0	0	0.004007	0	0
HERC2	8924	broad.mit.edu	37	15	28491994	28491994	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:28491994G>A	uc001zbj.3	-	21	3391	c.3285C>T	c.(3283-3285)ctC>ctT	p.L1095L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1095					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGTGCACAGGAGGGCTGTGT	0.483000														38			22		0	0	0.004656	0	0
TNN	63923	broad.mit.edu	37	1	175046581	175046581	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175046581C>T	uc001gkl.1	+	1	140	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TNN_uc010pmx.1_Silent_p.F9F	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	9					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R8H(1)|p.R8S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTTCCGCTTCCCTATGGGGC	0.572000														83			32		0	0	0.003271	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24505099	24505099	+	Nonsense_Mutation	SNP	G	A	A	rs118203982		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24505099G>A	uc003nef.3	+	3	640	c.612G>A	c.(610-612)tgG>tgA	p.W204*	ALDH5A1_uc003neg.3_Nonsense_Mutation_p.W204*	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	204					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AACCCCAGTGGAATTTCCCCA	0.567000														24			21		0	0	0.003330	0	0
PGK2	5232	broad.mit.edu	37	6	49754773	49754773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:49754773G>A	uc003ozu.3	-	0	281	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	43					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTTGGGATGGAAGCCTTGAT	0.463000														65			29		0	0	0.001061	0	0
APC	324	broad.mit.edu	37	5	112178327	112178327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:112178327C>T	uc003kpz.4	+	16	7229	c.7036C>T	c.(7036-7038)Cca>Tca	p.P2346S	APC_uc011cvt.2_Missense_Mutation_p.P2328S|APC_uc003kpy.4_Missense_Mutation_p.P2346S|APC_uc010jbz.3_Missense_Mutation_p.P2063S|APC_uc010jca.3_Missense_Mutation_p.P1646S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2346	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.?(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)		ATCTCAACTTCCAAGGACATC	0.433000		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)				12			28		0	0	0.001061	0	0
DTL	51514	broad.mit.edu	37	1	212216443	212216443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:212216443G>A	uc009xdc.3	+	1	475	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DTL_uc010ptb.2_Intron|DTL_uc001hiz.4_Intron	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	54					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCTCCTTTTGGATGTACCTTC	0.403000														82			35		0	0	0.001287	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20554476C>T	uc002dhj.4	-	11	1600	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D464N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D464N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	464					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.D464N(2)|p.D464D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507000														243			66		0	0	0.003610	0	0
LRRC16A	55604	broad.mit.edu	37	6	25488746	25488746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:25488746C>T	uc011djw.2	+	12	1366	c.998C>T	c.(997-999)cCa>cTa	p.P333L	LRRC16A_uc010jpy.3_Missense_Mutation_p.P333L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	333					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTGCCAATCCATTGACCGCC	0.473000														75			58		0	0	0.003610	0	0
MAPK10	5602	broad.mit.edu	37	4	86985432	86985432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:86985432G>A	uc003hps.3	-	10	1783	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	MAPK10_uc010ikg.3_Missense_Mutation_p.A328V|MAPK10_uc003hpr.3_Missense_Mutation_p.A328V|MAPK10_uc003hpt.3_Missense_Mutation_p.A366V|MAPK10_uc003hpu.3_Missense_Mutation_p.A366V|MAPK10_uc003hpv.3_Missense_Mutation_p.A221V|MAPK10_uc003hpn.3_Missense_Mutation_p.A114V|MAPK10_uc011ccw.2_Missense_Mutation_p.A252V|MAPK10_uc003hpo.3_Missense_Mutation_p.A221V|MAPK10_uc003hpp.3_Missense_Mutation_p.A221V	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	366					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCCACTTCGGCTGGGTCATA	0.443000														58			47		0	0	0.003610	0	0
CADM3	57863	broad.mit.edu	37	1	159170642	159170642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159170642C>T	uc001ftl.2	+	8	1306	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	CADM3_uc001ftk.2_Missense_Mutation_p.A410V|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	376					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCTCCAGACGCGGACACGGCC	0.582000														56			30		0	0	0.004289	0	0
CDH2	1000	broad.mit.edu	37	18	25570082	25570082	+	Missense_Mutation	SNP	C	T	T	rs150313483		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:25570082C>T	uc002kwg.2	-	9	2036	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	CDH2_uc010xbn.1_Missense_Mutation_p.R495Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	526	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCATATATCGATCTGGGTC	0.378000														42			27		0	0	0.005443	0	0
FAM179A	165186	broad.mit.edu	37	2	29255833	29255833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29255833G>A	uc010ezl.3	+	14	2397	c.2046G>A	c.(2044-2046)atG>atA	p.M682I	FAM179A_uc010ymm.2_Missense_Mutation_p.M627I|FAM179A_uc002rmr.4_Missense_Mutation_p.M209I|FAM179A_uc002rms.1_5'Flank	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	682							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATATCTTGATGGCGAACACTA	0.443000														18			10		0	0	0.001368	0	0
SERPINA6	866	broad.mit.edu	37	14	94780692	94780692	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94780692A>G	uc001ycv.3	-	1	398	c.294T>C	c.(292-294)acT>acC	p.T98T	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	98					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGACCTCTCAGTGAGGTTGA	0.562000														3			18		0	0	0.000958	0	0
LMTK2	22853	broad.mit.edu	37	7	97822385	97822385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:97822385C>T	uc003upd.2	+	10	2901	c.2608C>T	c.(2608-2610)Ctc>Ttc	p.L870F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	870					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGTTGAAATTCTCTCAACTGA	0.547000														9			32		0	0	0.002445	0	0
KCND3	3752	broad.mit.edu	37	1	112318747	112318747	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:112318747C>T	uc001ebu.1	-	7	2400	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	KCND3_uc001ebv.1_Silent_p.T621T	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	640						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAGGAATGTTCGTGTTGGGGC	0.597000														59			45		0	0	0.003610	0	0
NCAPD3	23310	broad.mit.edu	37	11	134079247	134079247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:134079247G>A	uc001qhd.1	-	4	1298	c.692C>T	c.(691-693)tCc>tTc	p.S231F	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	231					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTTTCAAGGAAAACTTTGG	0.368000														37			27		0	0	0.005443	0	0
MTMR7	9108	broad.mit.edu	37	8	17230708	17230708	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:17230708T>A	uc003wxm.3	-	1	305	c.66A>T	c.(64-66)aaA>aaT	p.K22N		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	22							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTAGAGCTGCTTTTTTAGGAG	0.393000														7			23		0	0	0.004656	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728713	15728713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15728713G>A	uc002ddr.3	-	3	1114	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	KIAA0430_uc002ddq.3_Missense_Mutation_p.L302F|KIAA0430_uc010uzv.2_Missense_Mutation_p.L303F|KIAA0430_uc010uzw.2_Missense_Mutation_p.L303F|KIAA0430_uc010uzx.2_3'UTR	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	302						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGACAGCAAGAGGTGCAGGT	0.438000														70			40		0	0	0.002222	0	0
COL3A1	1281	broad.mit.edu	37	2	189864583	189864583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189864583C>T	uc002uqj.1	+	31	2362	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	749	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGCGGTCCAGGTGCTGA	0.473000														8			6		0	0	0.003080	0	0
U2SURP	23350	broad.mit.edu	37	3	142773807	142773807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142773807C>T	uc003evh.1	+	26	2896	c.2797C>T	c.(2797-2799)Ccc>Tcc	p.P933S	U2SURP_uc003evi.1_Missense_Mutation_p.P524S|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.P932S	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	933	Arg/Ser-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGTACATCCCCCAGCCCATC	0.458000														4			7		0	0	0.003080	0	0
COL1A2	1278	broad.mit.edu	37	7	94035010	94035010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94035010C>T	uc003ung.1	+	10	983	c.512C>T	c.(511-513)cCt>cTt	p.P171L	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	171					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGAACTCCTGGACTTCCT	0.373000										HNSCC(75;0.22)				90			96		0	0	0.003610	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724794	113724794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:113724794G>A	uc003eax.3	-	9	1576	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.P455S|KIAA1407_uc011bip.1_Missense_Mutation_p.P464S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	477										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCCACAAAGGGGGCACAGCA	0.463000														46			30		0	0	0.002096	0	0
TLR4	7099	broad.mit.edu	37	9	120475721	120475721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:120475721G>A	uc004bjz.3	+	2	1606	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	TLR4_uc004bkb.3_Missense_Mutation_p.E239K|TLR4_uc004bka.3_Missense_Mutation_p.E399K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	439					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACAAATGAGTGAGTTTTCAGT	0.388000														10			76		0	0	0.003610	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123826	31123826	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31123826C>T	uc003tca.2	+	6	688	c.399C>T	c.(397-399)gcC>gcT	p.A133A	ADCYAP1R1_uc003tcg.3_Silent_p.A133A|ADCYAP1R1_uc003tce.2_Silent_p.A133A|ADCYAP1R1_uc003tcb.2_Silent_p.A112A|ADCYAP1R1_uc003tcc.2_Silent_p.A133A|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	133	Important for ligand binding and specificity.				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						ACTTTGATGCCTGTGGGTTTG	0.547000														65			42		0	0	0.003610	0	0
BC139719	0	broad.mit.edu	37	16	90161575	90161575	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:90161575G>A	uc002fqq.3	+	3	501	c.501G>A	c.(499-501)ggG>ggA	p.G167G	BC139719_uc002fqp.3_Silent_p.G150G					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		TGGGCCAAGGGACGCTACACC	0.582000														6			4		0	0	0.000602	0	0
NLRC4	58484	broad.mit.edu	37	2	32476000	32476000	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:32476000T>A	uc002roi.3	-	3	1194	c.933A>T	c.(931-933)gaA>gaT	p.E311D	NLRC4_uc021vfq.1_Missense_Mutation_p.E311D|NLRC4_uc002roj.2_Missense_Mutation_p.E311D|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	311	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGATCAGCACTTCTCGGATGA	0.527000														33			27		0	0	0.001512	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798955	57798955	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57798955C>T	uc010rjz.2	+	0	531	c.531C>T	c.(529-531)gtC>gtT	p.V177V	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCCCAAATGTCATTGACCATT	0.517000														79			43		0	0	0.003610	0	0
NUP153	9972	broad.mit.edu	37	6	17648081	17648081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:17648081G>A	uc003ncd.1	-	12	1789	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	NUP153_uc011dje.1_Missense_Mutation_p.P561L|NUP153_uc010jpl.1_Missense_Mutation_p.P530L	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	530					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			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)			TTTTACGATTGGAGATGAAAA	0.338000														69			26		0	0	0.001786	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629397	9629397	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:9629397G>A	uc003jem.1	-	0	1067	c.748C>T	c.(748-750)Cta>Tta	p.L250L		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	250					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGAAACTTTAGAGAAGAGAGA	0.433000														55			22		0	0	0.001882	0	0
SORCS3	22986	broad.mit.edu	37	10	106937874	106937875	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106937874_106937875TT>AA	uc001kyi.1	+	13	2179_2180	c.1952_1953TT>AA	c.(1951-1953)gtt>gAA	p.V651E	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	651						integral to membrane	neuropeptide receptor activity	p.V651A(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCACTTCGGTTCCTCTCTTTG	0.475000														29			15		0	0	0.004672	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963610	7963610	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7963610C>A	uc002mir.3	+	2	304	c.203C>A	c.(202-204)cCg>cAg	p.P68Q		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	68						integral to membrane		p.P68Q(2)|p.P68S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCAGAGGCCCCGTGCCAGCAA	0.517000														100			7		0.00307968	0.00640016	0.003080	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19775806	19775806	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:19775806T>C	uc002ykw.3	-	0	165	c.134A>G	c.(133-135)gAa>gGa	p.E45G		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	45					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCGTTGGGATTCCTTGATTGT	0.423000														68			33		0	0	0.005524	0	0
CCKAR	886	broad.mit.edu	37	4	26487489	26487489	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:26487489C>T	uc003gse.1	-	2	549	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	132					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATATGGCTACCAGATTAAAGG	0.443000														16			12		0	0	0.001368	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235926	23235927	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23235926_23235927CC>TT	uc021wmq.1	+	1	530_531	c.256_257CC>TT	c.(256-258)ccc>TTc	p.P86F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.P85F|IGLL5_uc010gtu.2_Intron|IGLL5_uc021wmr.1_5'Flank	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	85						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CAGGTGCTGGCCCCGGGGGTTT	0.629000														9			7		0	0	0.004672	0	0
HPR	3250	broad.mit.edu	37	16	72107799	72107799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72107799G>A	uc002fby.3	+	1	44	c.14G>A	c.(13-15)gGa>gAa	p.G5E	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	5					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.L4L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AGTGACCTGGGAGCTGTCATT	0.512000														56			42		0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137619233	137619233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:137619233C>T	uc004cfe.3	+	4	1158	c.776C>T	c.(775-777)cCa>cTa	p.P259L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	259	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCCAATCCAGATGAATAT	0.522000														6			37		0	0	0.004289	0	0
PPM1B	5495	broad.mit.edu	37	2	44436387	44436387	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44436387T>G	uc002rtt.3	+	2	1313	c.885T>G	c.(883-885)ttT>ttG	p.F295L	PPM1B_uc002rts.3_Missense_Mutation_p.F295L|PPM1B_uc002rtu.3_Missense_Mutation_p.F295L|PPM1B_uc002rtv.3_Missense_Mutation_p.F8L|PPM1B_uc002rtw.3_Missense_Mutation_p.F295L|PPM1B_uc002rtx.3_Missense_Mutation_p.F295L	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	295					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAGTTTGCTTTTCAAATGCTC	0.328000														180			125		0	0	0.003610	0	0
RFX6	222546	broad.mit.edu	37	6	117232120	117232120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117232120C>T	uc003pxm.3	+	6	758	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGTAAATATTCGCTTAGCTCA	0.343000														57			31		0	0	0.004289	0	0
SPEG	10290	broad.mit.edu	37	2	220353270	220353270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220353270G>A	uc010fwg.3	+	32	7909	c.7909G>A	c.(7909-7911)Gat>Aat	p.D2637N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2637	Ig-like 9.				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)		GTCCTGCAAAGATGGGCGGCA	0.622000														28			24		0	0	0.003954	0	0
TTC39A	22996	broad.mit.edu	37	1	51767299	51767299	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:51767299C>T	uc001csl.3	-	11	1211	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	TTC39A_uc001csk.3_Nonsense_Mutation_p.W334*|TTC39A_uc010ond.2_Nonsense_Mutation_p.W306*|TTC39A_uc010one.2_Nonsense_Mutation_p.W333*|TTC39A_uc010onf.2_Nonsense_Mutation_p.W337*|TTC39A_uc001csn.3_Nonsense_Mutation_p.W368*|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Nonsense_Mutation_p.W306*	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	369							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGACATCTTCCACTGGCCCTT	0.587000														16			14		0	0	0.001855	0	0
MYO3A	53904	broad.mit.edu	37	10	26414399	26414399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26414399G>A	uc001isn.2	+	18	2336	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	MYO3A_uc009xko.1_Missense_Mutation_p.G659E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	659	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R658K(1)|p.G659R(1)|p.R658G(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCACTAGAGGAGAAACAATT	0.423000														46			37		0	0	0.004878	0	0
FBXW8	26259	broad.mit.edu	37	12	117462048	117462048	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117462048C>T	uc001twg.1	+	8	1546	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	FBXW8_uc001twf.1_Silent_p.I422I	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	488							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		ACTGGAAGATCGTCAGTGGAG	0.577000														22			14		0	0	0.002450	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263446	144263446	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:144263446C>T	uc003qjv.3	-	2	1773	c.507G>A	c.(505-507)aaG>aaA	p.K169K	PLAGL1_uc003qjx.3_Silent_p.K169K|PLAGL1_uc003qjy.3_Silent_p.K169K|PLAGL1_uc010khl.3_Silent_p.K169K|PLAGL1_uc010khm.3_Silent_p.K169K|PLAGL1_uc003qjz.3_Silent_p.K169K|PLAGL1_uc003qka.3_Silent_p.K169K|PLAGL1_uc003qkb.3_Silent_p.K117K|PLAGL1_uc003qkc.3_Silent_p.K169K|PLAGL1_uc003qkd.3_Silent_p.K117K|PLAGL1_uc003qke.3_Silent_p.K169K|PLAGL1_uc003qkf.3_Silent_p.K169K|PLAGL1_uc003qkg.3_Silent_p.K117K|PLAGL1_uc003qkh.3_Silent_p.K169K|PLAGL1_uc003qki.3_Silent_p.K117K|PLAGL1_uc003qkj.3_Silent_p.K169K|PLAGL1_uc003qkk.3_Silent_p.K117K|PLAGL1_uc003qkl.3_Silent_p.K117K|PLAGL1_uc003qkm.3_Silent_p.K169K|PLAGL1_uc010khn.3_Silent_p.K169K|PLAGL1_uc003qkn.3_Silent_p.K117K|PLAGL1_uc003qko.3_Silent_p.K169K|PLAGL1_uc003qkp.3_Silent_p.K117K|PLAGL1_uc003qjw.3_Silent_p.K117K|PLAGL1_uc021zgj.1_Silent_p.K117K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	169					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GTCGCACATCCTTCCGGGTGT	0.572000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		181			135		0	0	0.003610	0	0
OR52K2	119774	broad.mit.edu	37	11	4470716	4470716	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4470716C>T	uc001lyz.2	+	0	192	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTCCTTCTCATCATCCAGG	0.542000														66			34		0	0	0.004878	0	0
MRPL10	124995	broad.mit.edu	37	17	45904462	45904462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45904462G>A	uc002ily.3	-	3	459	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	MRPL10_uc002ilz.3_Missense_Mutation_p.L111F|MRPL10_uc010wky.2_Missense_Mutation_p.L72F	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	111					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGTCGCATAAGAAGCTTGTCC	0.567000														8			53		0	0	0.003610	0	0
NOD2	64127	broad.mit.edu	37	16	50745440	50745440	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50745440C>A	uc002egm.1	+	3	1723	c.1618C>A	c.(1618-1620)Ctt>Att	p.L540I	NOD2_uc021tia.1_Missense_Mutation_p.L372I|NOD2_uc010cbk.1_Missense_Mutation_p.L513I|NOD2_uc002egl.1_Missense_Mutation_p.L318I|NOD2_uc010cbl.1_Missense_Mutation_p.L318I|NOD2_uc010cbm.1_Missense_Mutation_p.L318I|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	540	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACCCAGTCTTCTTCGGGGCCG	0.617000														20			17		5.3912e-06	1.12719e-05	0.000743	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951702	30951702	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30951702G>A	uc003aig.1	-	3	650	c.510C>T	c.(508-510)ttC>ttT	p.F170F	GAL3ST1_uc003aih.1_Silent_p.F170F|GAL3ST1_uc003aii.1_Silent_p.F170F|GAL3ST1_uc010gvz.1_Silent_p.F170F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	170					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGAGGACTCGAACAAGCGGG	0.642000														32			22		0	0	0.003330	0	0
ADAD2	161931	broad.mit.edu	37	16	84227647	84227647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:84227647G>A	uc002fhq.2	+	1	568	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	ADAD2_uc002fhr.2_Intron|AK123582_uc002fhs.1_3'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	0	DRBM.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGGAGGAGAGGAATTGAAAGC	0.473000														48			29		0	0	0.004878	0	0
ZBED2	79413	broad.mit.edu	37	3	111312910	111312910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:111312910G>A	uc003dxy.3	-	1	1040	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.P47S	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	47							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TTGTTGTGGGGCATTGGAGTG	0.547000														26			18		0	0	0.002299	0	0
SCARB2	950	broad.mit.edu	37	4	77087448	77087448	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77087448C>A	uc003hju.2	-	9	1550	c.1194G>T	c.(1192-1194)acG>acT	p.T398T	SCARB2_uc011cbu.2_Silent_p.T255T	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	398					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	p.T398T(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAATGTCTCCCGTTTCACTAC	0.428000														112			6		0.00198382	0.00412773	0.001984	1	0
BIN2	51411	broad.mit.edu	37	12	51685803	51685803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51685803G>A	uc001ryg.3	-	9	1139	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	BIN2_uc009zlz.3_Missense_Mutation_p.P331S|BIN2_uc001ryh.3_Missense_Mutation_p.P239S|BIN2_uc010sng.2_Missense_Mutation_p.P337S	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	363						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTGGAGCTGGGGAGAACTTCC	0.617000														22			21		0	0	0.002780	0	0
ANK3	288	broad.mit.edu	37	10	61932885	61932885	+	Silent	SNP	G	A	A	rs150715672		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61932885G>A	uc001jky.3	-	18	2582	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Silent_p.F731F|ANK3_uc001jkz.4_Silent_p.F742F|ANK3_uc001jlb.1_Silent_p.F277F|ANK3_uc001jlc.1_Silent_p.F409F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	748					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.F748F(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						GCTGGAGCAGGAAATTAACAA	0.338000														29			14		0	0	0.000743	0	0
MYLK2	85366	broad.mit.edu	37	20	30409334	30409334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30409334G>A	uc002wwq.2	+	3	668	c.566G>A	c.(565-567)aGg>aAg	p.R189K		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	189					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)			ACGGATCCCAGGCCAGCCAAG	0.592000														41			15		0	0	0.004007	0	0
ANXA2	302	broad.mit.edu	37	15	60648028	60648028	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:60648028G>A	uc010bgj.3	-	6	673	c.618C>T	c.(616-618)tcC>tcT	p.S206S	ANXA2_uc002agk.3_Intron|ANXA2_uc002agn.3_Intron|ANXA2_uc002agl.3_Intron|ANXA2_uc002agm.3_Intron|ANXA2_uc010uhd.2_Intron	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	0					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CAGGCACAGGGGATTTAGTTA	0.418000														10			10		0	0	0.000443	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458345	42458345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42458345G>A	uc002igt.1	-	12	1327	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	432					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.R431M(1)		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)	GGAGGGACGTGACCTCAGCCC	0.627000														4			40		0	0	0.002522	0	0
OR2W5	441932	broad.mit.edu	37	1	247655249	247655249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247655249C>T	uc001icz.2	+	0	880	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGAAGTTCCTGACTCTCT	0.512000														37			40		0	0	0.002522	0	0
MUC16	94025	broad.mit.edu	37	19	9066356	9066356	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9066356G>A	uc002mkp.3	-	2	21294	c.21090C>T	c.(21088-21090)atC>atT	p.I7030I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7032	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						TTTGAGTGGGGATGGTCATTT	0.493000														116			107		0	0	0.003610	0	0
PDE6C	5146	broad.mit.edu	37	10	95380680	95380680	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95380680C>T	uc001kiu.4	+	2	804	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	222	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGTGTCTATCATCCTAAGGC	0.383000														241			151		0	0	0.003610	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874951	80874951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:80874951C>T	uc010ysh.2	+	17	2821	c.2816C>T	c.(2815-2817)tCg>tTg	p.S939L	CTNNA2_uc010yse.2_Missense_Mutation_p.S891L|CTNNA2_uc010ysf.2_Missense_Mutation_p.S891L|CTNNA2_uc010ysg.2_Missense_Mutation_p.S846L|CTNNA2_uc010ysi.2_Missense_Mutation_p.S523L|CTNNA2_uc010ysj.2_Missense_Mutation_p.S220L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	939					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAACACATTTCGCCTGTACAG	0.403000														87			59		0	0	0.003610	0	0
OR2A5	393046	broad.mit.edu	37	7	143748193	143748193	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143748193C>A	uc011ktw.2	+	0	699	c.699C>A	c.(697-699)ggC>ggA	p.G233G		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGGGGAGGGCCGCAGAAAGG	0.617000														81			30		2.61193e-14	5.48877e-14	0.001786	1	0
SULF2	55959	broad.mit.edu	37	20	46318973	46318973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:46318973G>A	uc002xto.3	-	4	964	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	SULF2_uc002xtr.3_Missense_Mutation_p.P212S|SULF2_uc002xtq.3_Missense_Mutation_p.P212S|SULF2_uc010ghv.1_Missense_Mutation_p.P212S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	212					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.P212Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCCTGTGCGGGTACATCTTC	0.577000														56			10		0	0	0.000443	0	0
RRM2B	50484	broad.mit.edu	37	8	103244404	103244404	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:103244404T>C	uc022azl.1	-	1	402	c.393A>G	c.(391-393)gcA>gcG	p.A131A	RRM2B_uc003ykn.3_Silent_p.A59A|RRM2B_uc010mbv.2_Intron|RRM2B_uc003yko.3_Non-coding_Transcript|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	59					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AGGAAGCCTGTGCCTGTTTAT	0.423000								Modulation of nucleotide pools						50			70		0	0	0.003610	0	0
CARD11	84433	broad.mit.edu	37	7	2963988	2963988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:2963988C>T	uc003smv.3	-	14	2153	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	607					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)		GAGTAGCGTTCGTGACTGTCA	0.642000			Mis		DLBCL									24			11		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346622	140346622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140346622G>A	uc003lii.3	+	0	876	c.271G>A	c.(271-273)Gag>Aag	p.E91K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.E91K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	91	Cadherin 1.				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)			GCGCTACCTGGAGCTGGACCT	0.672000														5			12		0	0	0.001368	0	0
MUC4	4585	broad.mit.edu	37	3	195474187	195474187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:195474187C>T	uc021xjp.1	-	24	16255	c.16099G>A	c.(16099-16101)Gac>Aac	p.D5367N	MUC4_uc010hzq.3_Missense_Mutation_p.D224N|MUC4_uc003fuz.3_Missense_Mutation_p.D965N|MUC4_uc003fva.3_Missense_Mutation_p.D847N|MUC4_uc003fvb.3_Missense_Mutation_p.D883N|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.D883N|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.D876N|MUC4_uc021xjn.1_Missense_Mutation_p.D1056N|MUC4_uc021xjo.1_Missense_Mutation_p.D847N|MUC4_uc021xjg.1_Missense_Mutation_p.D847N|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.D931N|MUC4_uc021xjj.1_Missense_Mutation_p.D931N|MUC4_uc021xjk.1_Missense_Mutation_p.D1108N|MUC4_uc021xjl.1_Missense_Mutation_p.D847N|MUC4_uc003fvo.3_Missense_Mutation_p.D1131N|MUC4_uc003fvp.3_Missense_Mutation_p.D1080N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2124					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAACGCGTCGAGTTTCATG	0.637000														36			7		0	0	0.004482	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910951	230910951	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:230910951G>A	uc002vqd.2	-	3	1350	c.891C>T	c.(889-891)ttC>ttT	p.F297F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.F297F|SLC16A14_uc002vqf.3_Silent_p.F297F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	297						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACCAGTCCTCGAAGCCCTTCC	0.517000														17			18		0	0	0.000958	0	0
OR10G7	390265	broad.mit.edu	37	11	123909555	123909555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123909555G>A	uc001pzq.1	-	0	154	c.154C>T	c.(154-156)Cac>Tac	p.H52Y		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GTGTGGAGGTGAGAATCCACC	0.557000														47			7		0	0	0.000443	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541936	66541936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:66541936G>A	uc002lkk.2	+	6	1190	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CCDC102B_uc002lki.2_Missense_Mutation_p.E323K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E323K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	323										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACATAATGATGAAATGCAAGA	0.363000														32			13		0	0	0.001855	0	0
MAST3	23031	broad.mit.edu	37	19	18254689	18254689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18254689C>T	uc002nhz.4	+	20	2369	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	790							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCAAGTTTGCCTTCTCATCA	0.627000														16			9		0	0	0.000443	0	0
SLC30A4	7782	broad.mit.edu	37	15	45777479	45777479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:45777479G>A	uc001zvj.3	-	7	1484	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	391					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GTTTGCTTTGGACTGTACTTC	0.363000														13			11		0	0	0.001368	0	0
RYR1	6261	broad.mit.edu	37	19	39016076	39016076	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39016076C>T	uc002oit.3	+	70	10690	c.10560C>T	c.(10558-10560)atC>atT	p.I3520I	RYR1_uc002oiu.3_Silent_p.I3515I|RYR1_uc002oiv.1_Silent_p.I435I|RYR1_uc010xuf.1_Silent_p.I440I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3520					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCTGCCCATCGGCCTGAATA	0.632000														29			17		0	0	0.001216	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028176	21028176	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21028176C>T	uc010sil.2	+	6	800	c.735C>T	c.(733-735)atC>atT	p.I245I	SLCO1B3_uc001rek.3_Silent_p.I245I|SLCO1B3_uc001rel.3_Silent_p.I245I|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	245					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.I245M(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAGGCACTATCAGAATAACTC	0.383000														102			55		0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152651277	152651277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152651277G>A	uc021zhb.1	-	75	14766	c.14543C>T	c.(14542-14544)cCc>cTc	p.P4848L	SYNE1_uc003qot.4_Missense_Mutation_p.P4777L|SYNE1_uc003qou.4_Missense_Mutation_p.P4848L|SYNE1_uc010kiz.3_Missense_Mutation_p.P603L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4848					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAAGCCAAGGGGTCAAGGTG	0.493000										HNSCC(10;0.0054)				20			13		0	0	0.001368	0	0
FKBP15	23307	broad.mit.edu	37	9	115931755	115931755	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:115931755G>A	uc004bgs.2	-	25	3387	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V	FKBP15_uc004bgr.2_Silent_p.V515V|FKBP15_uc011lxc.1_Silent_p.V659V|FKBP15_uc011lxd.1_Silent_p.V1010V	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1078					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCTGACACAGACCTTTCCTG	0.587000														17			112		0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82838036	82838036	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:82838036C>T	uc003kii.3	+	7	9570	c.9214C>T	c.(9214-9216)Ctg>Ttg	p.L3072L	VCAN_uc003kij.3_Silent_p.L2085L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.L1736L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3072	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAGATTTCCTGATTGGCAT	0.408000														17			26		0	0	0.003330	0	0
OTOL1	131149	broad.mit.edu	37	3	161214652	161214652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:161214652G>A	uc011bpb.2	+	0	57	c.57G>A	c.(55-57)atG>atA	p.M19I		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	19						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGCTGGTATGAACACAATAG	0.373000														20			11		0	0	0.000978	0	0
SI	6476	broad.mit.edu	37	3	164764664	164764664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164764664C>T	uc003fei.3	-	15	1915	c.1852G>A	c.(1852-1854)Gga>Aga	p.G618R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	618	Isomaltase.				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)	TCCAGCATTCCAGTTATAGAC	0.373000										HNSCC(35;0.089)				66			47		0	0	0.003610	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685936	44685936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44685936G>A	uc010zxl.1	+	24	3398	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	SLC12A5_uc002xrb.2_Missense_Mutation_p.E1085K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1108					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAATGGTGATGAAAACTGTAT	0.562000														110			29		0	0	0.003271	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843016	16843016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:16843016C>T	uc002gqs.1	-	4	740	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.E197K	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	243					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ACTGCGCTCTCCTGCGTGGGC	0.662000									IgA Deficiency, Selective					3			25		0	0	0.003330	0	0
C2orf77	129881	broad.mit.edu	37	2	170505779	170505779	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:170505779A>G	uc002ufe.2	-	7	1324	c.1230T>C	c.(1228-1230)gaT>gaC	p.D410D		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	410										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						AGAAAATCTGATCTGCTTTCA	0.353000														58			30		0	0	0.001271	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163062	141163062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141163062C>T	uc010hup.3	+	1	1882	c.1835C>T	c.(1834-1836)tCt>tTt	p.S612F	ZBTB38_uc003etw.3_Missense_Mutation_p.S611F|ZBTB38_uc010hun.3_Missense_Mutation_p.S608F|ZBTB38_uc010huo.3_Missense_Mutation_p.S611F|ZBTB38_uc003ety.3_Missense_Mutation_p.S611F|ZBTB38_uc021xes.1_Missense_Mutation_p.S611F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	611					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCACACAGCTCTGAATTACCA	0.428000														45			52		0	0	0.003610	0	0
ADK	132	broad.mit.edu	37	10	76468180	76468180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:76468180C>T	uc001jwi.3	+	10	1160	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	ADK_uc010qlb.2_Missense_Mutation_p.P299S|ADK_uc001jwj.3_Missense_Mutation_p.P339S|ADK_uc010qlc.2_Missense_Mutation_p.P321S	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	356					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGCACCTTTCCTGAGAAGCC	0.473000														31			18		0	0	0.004990	0	0
PAK7	57144	broad.mit.edu	37	20	9546684	9546684	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:9546684C>T	uc002wnl.2	-	5	1883	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	PAK7_uc002wnk.2_Silent_p.R446R|PAK7_uc002wnj.2_Silent_p.R446R|PAK7_uc010gby.1_Silent_p.R446R	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	446	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAAGTATTCCCTGGGGTCTC	0.587000														21			24		0	0	0.003954	0	0
OR1D5	8386	broad.mit.edu	37	17	2966465	2966465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2966465G>A	uc021tns.1	-	0	437	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						CCAACACAAGGAGAGGAGCAA	0.587000														8			8		0	0	0.000978	0	0
MYO3A	53904	broad.mit.edu	37	10	26457766	26457766	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26457766G>A	uc001isn.2	+	27	3597	c.3237G>A	c.(3235-3237)caG>caA	p.Q1079Q	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1079	IQ 1.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.Q1079L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAAAATACAGGAGAAAAGGA	0.323000														49			32		0	0	0.003271	0	0
LRP1B	53353	broad.mit.edu	37	2	141607715	141607715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141607715C>T	uc002tvj.1	-	28	5867	c.4895G>A	c.(4894-4896)cGa>cAa	p.R1632Q	LRP1B_uc010fnl.1_Missense_Mutation_p.R814Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1632					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)		AATAAAAGCTCGTTTAATGGT	0.333000										TSP Lung(27;0.18)				54			35		0	0	0.004878	0	0
OR51A7	119687	broad.mit.edu	37	11	4929091	4929091	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4929091G>A	uc010qyq.2	+	0	492	c.492G>A	c.(490-492)agG>agA	p.R164R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L163*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACCTTAAGGAGATTAAAAT	0.393000														46			30		0	0	0.001061	0	0
NOS1	4842	broad.mit.edu	37	12	117672548	117672548	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117672548G>A	uc001twn.2	-	21	3870	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	NOS1_uc021ren.1_Silent_p.F683F|NOS1_uc021reo.1_Silent_p.F683F|NOS1_uc001twm.2_Silent_p.F1019F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1019	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGAGACGCACGAAGATAGTTG	0.557000														18			6		0	0	0.001168	0	0
MYH13	8735	broad.mit.edu	37	17	10258066	10258066	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10258066G>A	uc002gmk.1	-	10	1026	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	312	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.D311N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCACGAAGGGGAAGTCGAAGG	0.458000														20			50		0	0	0.003610	0	0
DCAF12	25853	broad.mit.edu	37	9	34107373	34107373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:34107373G>A	uc003ztt.2	-	2	866	c.524C>T	c.(523-525)cCt>cTt	p.P175L		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12 (DCAF12), mRNA.	175						CUL4 RING ubiquitin ligase complex|centrosome				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TACACACACAGGATCCAGCGT	0.488000														7			42		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905632	54905632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54905632G>A	uc003dhf.3	+	17	1741	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E471K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E299K	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	565						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGTGGAGTGGGAAGACCGAGA	0.483000														29			34		0	0	0.001287	0	0
CSMD2	114784	broad.mit.edu	37	1	34191066	34191066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34191066C>T	uc001bxm.1	-	16	2756	c.2579G>A	c.(2578-2580)gGg>gAg	p.G860E	CSMD2_uc001bxn.1_Missense_Mutation_p.G820E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	820	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGGTAAACCCCGATCAAGGG	0.532000														22			16		0	0	0.004990	0	0
AK5	26289	broad.mit.edu	37	1	77806190	77806190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:77806190G>A	uc001dhn.3	+	5	1165	c.828G>A	c.(826-828)atG>atA	p.M276I	AK5_uc001dho.3_Missense_Mutation_p.M250I	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	276					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGAGACTAATGAACTTCAAGC	0.438000														43			29		0	0	0.001061	0	0
GALNT6	11226	broad.mit.edu	37	12	51773391	51773391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51773391C>T	uc001ryk.2	-	1	400	c.175G>A	c.(175-177)Gag>Aag	p.E59K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E59K|GALNT6_uc010snh.1_Missense_Mutation_p.E59K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	59					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCATGGCCTCCAGCATGAGG	0.572000														51			23		0	0	0.003954	0	0
CDHR2	54825	broad.mit.edu	37	5	175992384	175992384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:175992384C>T	uc021yie.1	+	1	305	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	CDHR2_uc003mem.2_Missense_Mutation_p.L11F|CDHR2_uc003men.1_Missense_Mutation_p.L11F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	11					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGCTTCCTCCTTCCTGCCCT	0.622000														11			15		0	0	0.000958	0	0
MMP26	56547	broad.mit.edu	37	11	5012670	5012670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5012670G>A	uc001lzv.3	+	3	557	c.539G>A	c.(538-540)gGa>gAa	p.G180E		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	180					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G180E(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAAATTCTGGAAATCCTGGA	0.473000														73			61		0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	35733949	35733949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:35733949C>T	uc021rid.1	+	21	4175	c.3641C>T	c.(3640-3642)tCa>tTa	p.S1214L	NBEA_uc021ric.1_Missense_Mutation_p.S1214L|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1214						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)		CATACAACTTCAGATGGAATG	0.398000														25			15		0	0	0.003163	0	0
GJA10	84694	broad.mit.edu	37	6	90604881	90604881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90604881C>T	uc011eaa.2	+	0	694	c.694C>T	c.(694-696)Cat>Tat	p.H232Y		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	232					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGAAATATTTCATCTAGGCAT	0.388000														46			34		0	0	0.004289	0	0
TNRC6C	57690	broad.mit.edu	37	17	76087609	76087609	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76087609C>A	uc002jud.2	+	14	4491	c.3891C>A	c.(3889-3891)ctC>ctA	p.L1297L	TNRC6C_uc002juf.2_Silent_p.L1294L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1297					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGTCACGCCTCCCCCAGTGGA	0.577000														2			18		6.94344e-10	1.45586e-09	0.000743	1	0
MBD6	114785	broad.mit.edu	37	12	57919882	57919883	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57919882_57919883AG>GA	uc001soj.1	+	5	1355_1356	c.1131_1132AG>GA	c.(1129-1134)gaaggg>gaGAgg	p.G378R	MBD6_uc001sok.1_Missense_Mutation_p.G245R|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	378	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GATTGCTAGAAGGGAGAGGCCC	0.624000														21			10		0	0	0.004672	0	0
PDC	5132	broad.mit.edu	37	1	186415700	186415700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:186415700C>T	uc001gsa.3	-	2	144	c.71G>A	c.(70-72)gGa>gAa	p.G24E	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_5'UTR	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	24					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ATTTATTACTCCTTTGGGTCC	0.328000														55			28		0	0	0.001786	0	0
SCMH1	22955	broad.mit.edu	37	1	41579008	41579008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:41579008G>A	uc001cgo.3	-	7	1031	c.662C>T	c.(661-663)cCt>cTt	p.P221L	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Missense_Mutation_p.P160L|SCMH1_uc001cgr.3_Missense_Mutation_p.P160L|SCMH1_uc001cgq.3_Missense_Mutation_p.P174L|SCMH1_uc001cgs.3_Missense_Mutation_p.P231L|SCMH1_uc001cgt.3_Missense_Mutation_p.P160L|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	221					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAGCCCACAGGGAAGATGTC	0.557000														58			35		0	0	0.003755	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144780	100144780	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:100144780G>A	uc001kpc.3	-	14	1685	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	533			A -> T (in dbSNP:rs2296441).				oxidoreductase activity	p.F532F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCACGGGGCGGGCGAAGTAGA	0.602000														14			9		0	0	0.001368	0	0
KCNK9	51305	broad.mit.edu	37	8	140630500	140630500	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140630500C>T	uc003yvf.1	-	2	1189	c.1125_splice	c.e2+1	p.*375_splice	KCNK9_uc003yvg.1_3'UTR|KCNK9_uc003yve.1_Intron	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	0						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCTCCCCACACCTAAACGGAC	0.423000														73			74		0	0	0.003610	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420398	69420398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:69420398C>T	uc004afn.3	+	12	1400	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	430										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TCAGCAATTTCCCAAGAAGCT	0.343000														231			85		0	0	0.003610	0	0
ZP1	22917	broad.mit.edu	37	11	60637362	60637362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60637362G>A	uc001nqd.3	+	2	691	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	224					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTGAACAAACGAGATTACATA	0.562000														26			15		0	0	0.004990	0	0
SOX10	6663	broad.mit.edu	37	22	38373922	38373922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:38373922G>A	uc003aun.1	-	2	927	c.649C>T	c.(649-651)Cca>Tca	p.P217S	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P217S	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	217						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)					CCCTCTCCTGGGTGCCGGTGG	0.687000														11			8		0	0	0.003080	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327797	104327797	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104327797T>C	uc001tkb.1	+	4	580	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Silent_p.L159L	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	159					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CAGAGAAGAGTTGGTTAAAAA	0.408000														44			28		0	0	0.001786	0	0
PTHLH	5744	broad.mit.edu	37	12	28116681	28116681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:28116681G>A	uc001rik.3	-	2	427	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	PTHLH_uc001ril.3_Nonsense_Mutation_p.Q42*|PTHLH_uc001rim.3_Nonsense_Mutation_p.Q42*|PTHLH_uc001rin.3_Nonsense_Mutation_p.Q42*	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	42					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TGGAGGAGCTGATGTTCAGAC	0.408000														66			45		0	0	0.003610	0	0
TRIM32	22954	broad.mit.edu	37	9	119460032	119460032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:119460032C>T	uc022bmo.1	+	0	11	c.11C>T	c.(10-12)gCa>gTa	p.A4V	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.A4V|TRIM32_uc004bjx.2_Missense_Mutation_p.A4V	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	4	Poly-Ala.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGGCTGCAGCAGCAGCTTCT	0.522000														3			17		0	0	0.000743	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19199372	19199372	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:19199372G>A	uc001bbb.3	-	14	1935	c.1659C>T	c.(1657-1659)ccC>ccT	p.P553P	ALDH4A1_uc010ocu.2_Silent_p.P493P|ALDH4A1_uc001bbc.3_Silent_p.P553P|ALDH4A1_uc021ohl.1_Silent_p.P502P	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	553					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGTCCCCCAGGGGCTTATGTG	0.622000														37			42		0	0	0.003610	0	0
MAP2	4133	broad.mit.edu	37	2	210559607	210559607	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:210559607C>T	uc002vde.1	+	6	2961	c.2713C>T	c.(2713-2715)Cga>Tga	p.R905*	MAP2_uc002vdc.1_Nonsense_Mutation_p.R905*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.R901*	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	905					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGATAAAGTTCGAAGAGATTT	0.453000														28			23		0	0	0.002299	0	0
IL17RE	132014	broad.mit.edu	37	3	9952858	9952858	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9952858G>A	uc003btu.3	+	11	1150	c.1146_splice	c.e11+1	p.K382_splice	CIDEC_uc003bto.3_Intron|IL17RE_uc011atn.1_Splice_Site|IL17RE_uc003bty.3_Splice_Site|IL17RE_uc003btx.3_Splice_Site_p.K226_splice|IL17RE_uc010hcq.3_Splice_Site_p.K342_splice|IL17RE_uc003btw.3_Splice_Site_p.K342_splice	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	342						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCTGCTTCAAGGTACAACCAT	0.502000														58			53		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179485684	179485684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179485684C>T	uc021vsy.1	-	195	38174	c.37949G>A	c.(37948-37950)cGg>cAg	p.R12650Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R6345Q|TTN_uc021vta.1_Missense_Mutation_p.R6278Q|TTN_uc021vtb.1_Missense_Mutation_p.R6153Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13577	Ig-like 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R12650W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTCACCCGGGTGTCCTT	0.373000														30			31		0	0	0.003271	0	0
CDH18	1016	broad.mit.edu	37	5	19838955	19838955	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:19838955G>A	uc003jgd.3	-	2	675	c.141C>T	c.(139-141)gtC>gtT	p.V47V	CDH18_uc011cnm.2_Silent_p.V47V|CDH18_uc003jgc.3_Silent_p.V47V|CDH18_uc021xwu.1_Silent_p.V47V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	47					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)					GACGATGATGGACTTCGGTTT	0.428000														39			29		0	0	0.001512	0	0
abParts	0	broad.mit.edu	37	2	90211735	90211735	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:90211735G>A	uc010yts.2	+	37		c.4590_splice	c.e37-1							Parts of antibodies, mostly variable regions.																		GACCCAGACGGAACCATGGAA	0.572000														36			18		0	0	0.001882	0	0
CPA5	93979	broad.mit.edu	37	7	130007273	130007273	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:130007273A>G	uc010lmd.1	+	11	1519	c.899A>G	c.(898-900)gAg>gGg	p.E300G	CPA5_uc003vps.2_Missense_Mutation_p.E300G|CPA5_uc003vpt.2_Missense_Mutation_p.E300G|CPA5_uc010lme.1_Missense_Mutation_p.E300G|CPA5_uc003vpu.1_Missense_Mutation_p.E300G|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	300					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTCAGTCGGAGCCGGAGGTG	0.507000														56			12		0	0	0.000978	0	0
DDO	8528	broad.mit.edu	37	6	110714218	110714218	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:110714218C>T	uc003puc.3	-	4	874	c.870G>A	c.(868-870)gaG>gaA	p.E290E	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.E231E	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	262					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGAGGGAGGGCTCCAGAGCAC	0.582000														64			47		0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215848409	215848409	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215848409G>A	uc001hku.1	-	62	13231	c.12844C>T	c.(12844-12846)Ctg>Ttg	p.L4282L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4282	Fibronectin type-III 28.				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.L4281P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGGAAATCAGCAGTTTTTGG	0.438000										HNSCC(13;0.011)				41			24		0	0	0.002780	0	0
SLC12A9	56996	broad.mit.edu	37	7	100456509	100456509	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100456509C>T	uc003uwp.3	+	5	952	c.810C>T	c.(808-810)gtC>gtT	p.V270V	SLC12A9_uc003uwq.3_Silent_p.V181V|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.V6V|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Silent_p.V6V|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	270						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGCCAGCGTCTTTGCTGTCC	0.592000														44			17		0	0	0.001216	0	0
MBL1P	8512	broad.mit.edu	37	10	81666483	81666483	+	RNA	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:81666483T>A	uc021puw.1	+	1		c.308T>A								Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		AGAAGAGAAATCCCAAAGCTT	0.418000														26			32		0	0	0.001485	0	0
CACNA1I	8911	broad.mit.edu	37	22	40038817	40038817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40038817G>A	uc003ayc.3	+	6	1072	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	CACNA1I_uc003ayd.3_Missense_Mutation_p.G358S|CACNA1I_uc003aye.3_Missense_Mutation_p.G273S|CACNA1I_uc003ayf.3_Missense_Mutation_p.G273S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	358					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACTCTGGAAGGCTGGGTGGA	0.562000														5			3		0	0	0.004672	0	0
CUBN	8029	broad.mit.edu	37	10	17127727	17127727	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:17127727A>T	uc001ioo.3	-	15	2031	c.1979T>A	c.(1978-1980)cTt>cAt	p.L660H		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	660	CUB 2.				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)	CTTCCCAAGAAGGGGGTCCTG	0.443000														30			19		0	0	0.000958	0	0
SALL4	57167	broad.mit.edu	37	20	50408154	50408154	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:50408154T>C	uc002xwh.4	-	1	969	c.868A>G	c.(868-870)Aaa>Gaa	p.K290E	SALL4_uc010gii.3_Missense_Mutation_p.K290E|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	290					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGGCTTGTTTCAAGGCATCC	0.587000														50			13		0	0	0.002450	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471555	61471556	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61471555_61471556CC>TT	uc002ljl.3	+	7	925_926	c.829_830CC>TT	c.(829-831)cct>TTt	p.P277F	SERPINB7_uc002ljm.3_Missense_Mutation_p.P277F|SERPINB7_uc010xet.2_Missense_Mutation_p.P260F|SERPINB7_uc010dqg.3_Missense_Mutation_p.P277F	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGTATTTTTTCCTCAGTTCAAG	0.351000														27			16		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179411902	179411902	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179411902A>T	uc021vsy.1	-	288	86871	c.86646T>A	c.(86644-86646)cgT>cgA	p.R28882R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R22577R|TTN_uc021vta.1_Silent_p.R22510R|TTN_uc021vtb.1_Silent_p.R22385R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29809	Ig-like 133.						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)			GAATTGTATTACGTTCTTTCT	0.413000														147			93		0	0	0.003610	0	0
TRIML2	205860	broad.mit.edu	37	4	189020258	189020258	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:189020258G>A	uc011cle.1	-	3	774	c.552C>T	c.(550-552)gtC>gtT	p.V184V	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.V134V|TRIML2_uc011clf.1_Silent_p.V184V	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	134	B30.2/SPRY.						ligase activity	p.S183F(1)|p.S183I(1)|p.S183C(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGAGGCTGCGGACCTGTTCAG	0.483000														51			20		0	0	0.001523	0	0
NUAK1	9891	broad.mit.edu	37	12	106461376	106461376	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:106461376G>C	uc001tlj.1	-	6	2570	c.1190C>G	c.(1189-1191)cCc>cGc	p.P397R		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	397							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCCCCTTGGGCCTCTTAGA	0.517000														50			34		0	0	0.003755	0	0
ANPEP	290	broad.mit.edu	37	15	90349337	90349337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:90349337C>T	uc002bop.4	-	1	770	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	160	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACCAGGTACTCGGTGGGCTCC	0.632000														29			21		0	0	0.004656	0	0
FZD4	8322	broad.mit.edu	37	11	86665987	86665987	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:86665987G>A	uc001pce.3	-	0	454	c.141C>T	c.(139-141)ccC>ccT	p.P47P	LOC100506368_uc001pcf.3_5'Flank	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	47	FZ.				Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATGCGGATGGGGTCGCAGC	0.672000														22			12		0	0	0.001855	0	0
C10orf120	399814	broad.mit.edu	37	10	124457719	124457719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124457719G>A	uc001lgn.3	-	2	570	c.538C>T	c.(538-540)Cat>Tat	p.H180Y		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	180										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AAAGGCTGATGATTTCCCAGA	0.507000														61			41		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92086695	92086695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92086695C>T	uc001pdj.4	+	0	1434	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	473	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.C473C(1)		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)				CCCAGAATTTCAGCAACCACT	0.423000										TCGA Ovarian(4;0.039)				213			134		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26181423	26181423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26181423G>A	uc003abz.1	+	10	2591	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	MYO18B_uc003aca.1_Missense_Mutation_p.D662N|MYO18B_uc010guy.1_Missense_Mutation_p.D662N|MYO18B_uc010guz.1_Missense_Mutation_p.D662N|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.D294N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	781	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGATGGCAGATAGCAGCTC	0.617000														6			3		0	0	0.000248	0	0
ANKS3	124401	broad.mit.edu	37	16	4780033	4780033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:4780033G>A	uc002cxj.2	-	2	413	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	ANKS3_uc002cxi.2_5'Flank|ANKS3_uc021tcj.1_5'UTR|ANKS3_uc021tck.1_Missense_Mutation_p.H40Y|ANKS3_uc002cxk.3_5'UTR|ANKS3_uc010uxs.2_Intron|ANKS3_uc002cxm.3_5'UTR	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	40										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGCTGTGTGAAGATCCAGG	0.582000														57			39		0	0	0.001287	0	0
COL22A1	169044	broad.mit.edu	37	8	139688824	139688824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139688824C>T	uc003yvd.3	-	40	3574	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	COL22A1_uc011ljo.2_Missense_Mutation_p.G323S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1043	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)			ACCCCAATGCCTGGGTCACCA	0.522000										HNSCC(7;0.00092)				4			5		0	0	0.000602	0	0
RP1L1	94137	broad.mit.edu	37	8	10467557	10467557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:10467557C>T	uc003wtc.3	-	3	4280	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1351					intracellular signal transduction			p.E1351D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		gcctcttcttcttgctgtcct	0.488000														4			45		0	0	0.001951	0	0
WASF3	10810	broad.mit.edu	37	13	27259904	27259904	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:27259904C>T	uc001uqv.3	+	9	1656	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	WASF3_uc001uqw.3_Silent_p.I474I	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	477					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.T476M(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGGCCACGATCCTGTCCCGGC	0.612000														9			21		0	0	0.001523	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751198	162751198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:162751198G>A	uc002ubx.4	+	10	1388	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	SLC4A10_uc010fpa.1_Missense_Mutation_p.D414N|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.D383N|SLC4A10_uc002uby.4_Missense_Mutation_p.D372N	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	402					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.W402L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTATTTCATGATGTTGCCTA	0.318000														13			13		0	0	0.001368	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135891593	135891593	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:135891593C>T	uc010fnf.3	+	14	1532	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	RAB3GAP1_uc002tuj.3_Silent_p.L497L|RAB3GAP1_uc010fng.3_Silent_p.L322L|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	497						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAACAACTTTCTGATTCCAGG	0.378000														41			31		0	0	0.003271	0	0
OR13F1	138805	broad.mit.edu	37	9	107266963	107266963	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:107266963C>T	uc011lvm.2	+	0	420	c.420C>T	c.(418-420)acC>acT	p.T140T		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGGAGAACCTGTGTGCAGA	0.532000														9			69		0	0	0.003610	0	0
NBPF3	84224	broad.mit.edu	37	1	21807446	21807446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21807446G>A	uc001ber.3	+	11	1755	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	NBPF3_uc001bes.3_Missense_Mutation_p.E413K|NBPF3_uc009vqb.3_Missense_Mutation_p.E457K|NBPF3_uc010odm.2_Missense_Mutation_p.E399K	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	469	NBPF 4.|Poly-Glu.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAAGAAGAGGAAGAAGACCA	0.468000														98			15		0	0	0.002780	0	0
LRP1B	53353	broad.mit.edu	37	2	141777515	141777515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141777515C>T	uc002tvj.1	-	11	2918	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	649					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)		CACCACAATTCCTCTGGGATG	0.358000										TSP Lung(27;0.18)				39			25		0	0	0.001271	0	0
OR6T1	219874	broad.mit.edu	37	11	123813630	123813631	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123813630_123813631CC>GT	uc010sab.2	-	0	915_916	c.915_916GG>AC	c.(913-918)ttgggg>ttACgg	p.G306R		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		CTGGGCCACCCCAAGGCTTCTC	0.450000														50			40		0	0	0.004672	0	0
ACOT12	134526	broad.mit.edu	37	5	80643675	80643676	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:80643675_80643676GG>CA	uc003khl.4	-	5	625_626	c.570_571CC>TG	c.(568-573)ctccca>ctTGca	p.P191A	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	191	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.L190H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCATGGGGTGGGAGGACCAGTT	0.465000														40			83		0	0	0.004672	0	0
KIF16B	55614	broad.mit.edu	37	20	16359499	16359499	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:16359499G>A	uc002wpg.2	-	18	3307	c.3148C>T	c.(3148-3150)Cag>Tag	p.Q1050*	KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q432*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q432*|KIF16B_uc010gch.2_Nonsense_Mutation_p.Q1050*|KIF16B_uc010gci.2_Nonsense_Mutation_p.Q1050*|KIF16B_uc010gcj.2_Nonsense_Mutation_p.Q1061*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1050	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGCTAGCCTGGAGCCCTGAC	0.582000														32			48		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7531772	7531772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7531772C>T	uc010sge.2	-	8	2229	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	CD163L1_uc001qsy.3_Missense_Mutation_p.E725K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	725	SRCR 7.					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						CAAACAACTTCAGCAATGTTC	0.483000														44			33		0	0	0.004289	0	0
MYF5	4617	broad.mit.edu	37	12	81112819	81112819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81112819C>T	uc001szg.2	+	2	892	c.757C>T	c.(757-759)Cat>Tat	p.H253Y		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	253					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCTTATCTATCATGTGCTATG	0.478000														27			16		0	0	0.004007	0	0
NEBL	10529	broad.mit.edu	37	10	21148728	21148728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:21148728C>T	uc001iqi.3	-	7	1109	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	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.	238					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						TCCTTCATTTCATTATCAAAT	0.299000														33			16		0	0	0.004007	0	0
ALK	238	broad.mit.edu	37	2	29543716	29543716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29543716C>T	uc002rmy.3	-	6	2399	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	483	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGCCATCTTCAAAGTTGCAG	0.522000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					49			58		0	0	0.003610	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307132	39307132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:39307132G>A	uc021wwc.1	-	1	1005	c.965C>T	c.(964-966)cCt>cTt	p.P322L	CX3CR1_uc021wwa.1_Missense_Mutation_p.P290L|CX3CR1_uc021wwb.1_Missense_Mutation_p.P290L|CX3CR1_uc003cjl.3_Missense_Mutation_p.P290L|CX3CR1_uc021wwd.1_Missense_Mutation_p.P290L	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	290					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ATAGATGAGAGGATTCAGGCA	0.498000														62			39		0	0	0.001287	0	0
LPHN3	23284	broad.mit.edu	37	4	62812733	62812733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:62812733C>T	uc010ihh.3	+	12	2490	c.2317C>T	c.(2317-2319)Cat>Tat	p.H773Y	LPHN3_uc003hcq.4_Missense_Mutation_p.H773Y|LPHN3_uc003hct.3_Missense_Mutation_p.H166Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	760					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTCCACAAATCATTCTGTTAT	0.398000														99			89		0	0	0.003610	0	0
ZNF415	55786	broad.mit.edu	37	19	53619571	53619571	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53619571G>A	uc002qax.3	-	3	418	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ZNF415_uc010yds.2_Missense_Mutation_p.S44F|ZNF415_uc010ydt.2_Missense_Mutation_p.S44F|ZNF415_uc002qau.3_5'UTR|ZNF415_uc002qav.3_Silent_p.L23L|ZNF415_uc002qaw.3_Missense_Mutation_p.S44F|ZNF415_uc002qay.3_5'UTR|ZNF415_uc002qaz.3_Silent_p.L23L|ZNF415_uc002qba.3_Intron			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTCACCCAGGGAGACCAGGTT	0.473000														73			58		0	0	0.003610	0	0
FOXP1	27086	broad.mit.edu	37	3	71247353	71247353	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:71247353C>T	uc003dol.3	-	2	503	c.180_splice	c.e2+1	p.Q60_splice	FOXP1_uc003dom.3_Splice_Site_p.Q60_splice|FOXP1_uc003don.3_Splice_Site|FOXP1_uc021xan.1_Splice_Site_p.Q60_splice|FOXP1_uc003doo.3_Splice_Site_p.Q60_splice|FOXP1_uc003dop.3_Splice_Site_p.Q60_splice|FOXP1_uc021xao.1_Splice_Site_p.Q60_splice|FOXP1_uc003doq.1_Splice_Site_p.Q60_splice|FOXP1_uc003dos.3_Splice_Site_p.Q60_splice	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	60	Gln-rich.	Breakpoint for translocation to form PAX5-FOXP1.			cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCCCAGTACCTGTTGCTGCT	0.592000			T	PAX5	ALL									39			13		0	0	0.001855	0	0
CDH9	1007	broad.mit.edu	37	5	26988489	26988489	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26988489C>T	uc003jgs.1	-	2	121	c.-48_splice	c.e2-1		CDH9_uc010iug.3_Splice_Site	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTTGTTTTTCCTAAAGAGTA	0.313000														24			13		0	0	0.001368	0	0
COL24A1	255631	broad.mit.edu	37	1	86590795	86590795	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86590795G>A	uc001dlj.3	-	2	1299	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Silent_p.L408L	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	408					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)		TAGCCTTCTTGAGATTAGTAA	0.363000														39			33		0	0	0.003271	0	0
OLFM2	93145	broad.mit.edu	37	19	9967571	9967571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9967571C>T	uc002mmp.3	-	4	627	c.599G>A	c.(598-600)gGg>gAg	p.G200E		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	200	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						GTTACTGACCCCGGTCAGCTT	0.612000														8			6		0	0	0.001984	0	0
TMC1	117531	broad.mit.edu	37	9	75407149	75407149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75407149G>A	uc004aiz.1	+	16	1987	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMC1_uc010moz.1_Missense_Mutation_p.E441K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.E337K|TMC1_uc010mpa.1_Missense_Mutation_p.E337K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	483					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TACCCTTTGGGAAGCCAATAT	0.413000														18			157		0	0	0.003610	0	0
ZNF254	9534	broad.mit.edu	37	19	24310636	24310636	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:24310636T>A	uc002nru.3	+	3	1968	c.1834T>A	c.(1834-1836)Ttc>Atc	p.F612I	ZNF254_uc010xrk.2_Missense_Mutation_p.F527I	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	612					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CAAAGCATTTTTCTGGTCCTC	0.383000														28			29		0	0	0.001271	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016231	38016231	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:38016231C>T	uc003gtb.3	+	2	877	c.519C>T	c.(517-519)ttC>ttT	p.F173F	TBC1D1_uc011byd.2_Silent_p.F173F|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Silent_p.F44F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	173						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAAGAAGTTCGAGGTGCTCT	0.627000														60			46		0	0	0.003610	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148898	73148898	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:73148898G>A	uc003hgk.2	-	21	3610	c.3573C>T	c.(3571-3573)atC>atT	p.I1191I		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1191					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTTGTCAATGATCTTTCCAT	0.438000														59			52		0	0	0.003610	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801540	128801540	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:128801540G>A	uc003vop.2	+	1	232	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	41						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGGTGATGGTGGCTGTGGGTG	0.567000														121			22		0	0	0.002299	0	0
VNN1	8876	broad.mit.edu	37	6	133014378	133014378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:133014378C>T	uc003qdo.3	-	3	631	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	204	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GCCAAAACTTCCAAAGGTGGT	0.398000														37			19		0	0	0.000958	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56369832G>A	uc002qmd.4	+	2	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_uc002qmf.3_Missense_Mutation_p.G283E|NLRP4_uc010etf.3_Missense_Mutation_p.G189E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	358	NACHT.						ATP binding	p.G358R(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)		ATGCAGAAAGGAAAAGACCTG	0.512000														39			25		0	0	0.003954	0	0
KIAA0146	23514	broad.mit.edu	37	8	48626126	48626126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:48626126C>T	uc003xqd.3	+	15	2326	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	KIAA0146_uc011ldc.2_Missense_Mutation_p.S685F|KIAA0146_uc011ldd.2_Missense_Mutation_p.S695F|KIAA0146_uc003xqe.3_Missense_Mutation_p.S230F|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc010lxt.3_Missense_Mutation_p.S444F|KIAA0146_uc011ldf.2_Missense_Mutation_p.S260F|KIAA0146_uc011ldg.2_Missense_Mutation_p.S245F|KIAA0146_uc003xqg.1_Non-coding_Transcript	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	755										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				GGTGCAAGTTCCTGTGAGCTG	0.537000														45			21		0	0	0.001882	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248551788G>A	uc001iei.1	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ACAGTCTGAGGAACAGGGATG	0.458000														37			17		0	0	0.001523	0	0
EPPK1	83481	broad.mit.edu	37	8	144941802	144941802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144941802G>A	uc003zaa.1	-	0	5633	c.5620C>T	c.(5620-5622)Cgt>Tgt	p.R1874C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1874						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACACGAAGTGTGTGC	0.607000														25			37		0	0	0.004289	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054680	2054680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:2054680C>T	uc003zhc.3	+	5	1229	c.1130C>T	c.(1129-1131)aCc>aTc	p.T377I	SMARCA2_uc003zhd.3_Missense_Mutation_p.T377I|SMARCA2_uc010mha.3_Missense_Mutation_p.T368I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	377					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACCAAAGCAACCGTGGAACTA	0.403000														15			31		0	0	0.002445	0	0
NRXN3	9369	broad.mit.edu	37	14	79117588	79117588	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:79117588C>T	uc001xun.3	+	2	512	c.21C>T	c.(19-21)ttC>ttT	p.F7F	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.F141F	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.F7V(1)|p.D6E(1)		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)		CGGACGACTTCTTCTATGTAG	0.522000														9			72		0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41552234	41552234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:41552234C>T	uc003xok.3	-	27	3287	c.3203G>A	c.(3202-3204)cGg>cAg	p.R1068Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R384Q|ANK1_uc003xoi.3_Missense_Mutation_p.R1068Q|ANK1_uc003xoj.3_Missense_Mutation_p.R1068Q|ANK1_uc003xol.3_Missense_Mutation_p.R1068Q|ANK1_uc003xom.3_Missense_Mutation_p.R1109Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1068					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)			CTGGCAGAGCCGTGACATGAT	0.597000														9			25		0	0	0.004656	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996075	43996075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:43996075G>A	uc003bdy.2	-	22	3064	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	EFCAB6_uc003bdz.2_Missense_Mutation_p.S765L|EFCAB6_uc010gzi.2_Missense_Mutation_p.S765L|EFCAB6_uc010gzj.1_Missense_Mutation_p.S143L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	917	EF-hand 10.				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)				GACAGCAGGCGAATAGTTAAT	0.428000														131			89		0	0	0.003610	0	0
MARCKS	4082	broad.mit.edu	37	6	114179007	114179007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:114179007C>T	uc003pvy.4	+	0	481	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	29					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		TCGTCGCCTTCCAAAGCGAAC	0.587000														8			7		0	0	0.003080	0	0
ARAP2	116984	broad.mit.edu	37	4	36214091	36214091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:36214091C>T	uc003gsq.2	-	4	1398	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ARAP2_uc003gsr.1_Missense_Mutation_p.E354K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	354					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E354K(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTCAAAAATTCATTCTTTATA	0.338000														20			9		0	0	0.000978	0	0
TJP3	27134	broad.mit.edu	37	19	3730372	3730372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3730372G>A	uc010xhv.2	+	3	338	c.338G>A	c.(337-339)aGg>aAg	p.R113K	TJP3_uc010xhs.2_Missense_Mutation_p.R94K|TJP3_uc010xht.2_Missense_Mutation_p.R58K|TJP3_uc010xhu.2_Missense_Mutation_p.R103K|TJP3_uc010xhw.2_Missense_Mutation_p.R113K	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	94						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCCCGGAGGATCCACCTG	0.692000														5			4		0	0	0.000248	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386856	105386856	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105386856C>T	uc010qqu.1	-	5	520	c.453G>A	c.(451-453)aaG>aaA	p.K151K	SH3PXD2A_uc010qqr.2_Silent_p.K98K|SH3PXD2A_uc010qqs.1_Silent_p.K71K|SH3PXD2A_uc010qqt.1_Silent_p.K113K|SH3PXD2A_uc009xxn.1_Silent_p.K71K|SH3PXD2A_uc001kxj.1_Silent_p.K236K	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	236					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTTCTCCAGTCTTAGAGGTGT	0.592000														19			22		0	0	0.002780	0	0
C10orf28	27291	broad.mit.edu	37	10	99968599	99968599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:99968599C>T	uc001kox.4	+	4	1078	c.728C>T	c.(727-729)tCt>tTt	p.S243F	C10orf28_uc001kow.4_Missense_Mutation_p.S243F|C10orf28_uc001koy.4_Missense_Mutation_p.S243F|C10orf28_uc009xvx.3_Missense_Mutation_p.S243F|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	243							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AGCTCTGATTCTGAAATTGTA	0.393000														32			20		0	0	0.001523	0	0
COL14A1	7373	broad.mit.edu	37	8	121256239	121256239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121256239G>A	uc003yox.3	+	19	2736	c.2471G>A	c.(2470-2472)gGa>gAa	p.G824E	COL14A1_uc003yoy.3_Missense_Mutation_p.G502E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	824	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.G824R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCGCTCCTGGAAAAACCTGT	0.468000														94			32		0	0	0.003755	0	0
OPN3	23596	broad.mit.edu	37	1	241761205	241761205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241761205G>A	uc001hza.3	-	2	933	c.788C>T	c.(787-789)aCc>aTc	p.T263I	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	263					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GACCAGGAAGGTGAATATCAT	0.393000														57			25		0	0	0.005443	0	0
LRFN2	57497	broad.mit.edu	37	6	40400075	40400075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:40400075C>T	uc003oph.1	-	1	1243	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	260	LRRCT.					cell junction|integral to membrane|postsynaptic membrane		p.D260Y(2)|p.D259E(1)		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)					TCCAGGTCATCGTCCCGCTCG	0.597000														18			17		0	0	0.004990	0	0
HDAC4	9759	broad.mit.edu	37	2	240056275	240056275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:240056275G>A	uc002vyk.4	-	9	1835	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	HDAC4_uc010fyz.1_Missense_Mutation_p.S343L|HDAC4_uc010zoa.1_Missense_Mutation_p.S343L|HDAC4_uc010fza.2_Missense_Mutation_p.S348L|HDAC4_uc010fyy.3_Missense_Mutation_p.S300L|HDAC4_uc010znz.1_Missense_Mutation_p.S231L|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	348					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)		CAAGGATGGCGATGTGTAGAG	0.632000														20			12		0	0	0.001368	0	0
TTC7A	57217	broad.mit.edu	37	2	47221612	47221612	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:47221612C>T	uc010fbb.3	+	6	1328	c.960C>T	c.(958-960)gcC>gcT	p.A320A	TTC7A_uc002rvm.3_Silent_p.A286A|TTC7A_uc002rvn.1_Silent_p.A201A|TTC7A_uc002rvo.3_Silent_p.A320A|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Silent_p.A201A|TTC7A_uc002rvq.3_Silent_p.A60A|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	320							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTCTTTCGCCACTCAGGCCC	0.597000														48			34		0	0	0.002836	0	0
SCN10A	6336	broad.mit.edu	37	3	38768376	38768376	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38768376G>A	uc003ciq.3	-	15	2808	c.2808C>T	c.(2806-2808)tgC>tgT	p.C936C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	936					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)	GGGGGAATGGGCAGGACCTGC	0.597000														42			26		0	0	0.005443	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434829	1434829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1434829C>T	uc002lsn.3	+	11	1331	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding	p.S381T(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		GTGCCAGGGTcggggggcccc	0.711000														14			11		0	0	0.000978	0	0
ATCAY	85300	broad.mit.edu	37	19	3905569	3905569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3905569G>A	uc010xhz.2	+	4	775	c.292G>A	c.(292-294)Gat>Aat	p.D98N	ATCAY_uc002lyy.4_Missense_Mutation_p.D92N			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	92					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGATGACCTGGATATTAACGT	0.537000														50			40		0	0	0.001951	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028923	59028923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:59028923G>A	uc002qtd.3	-	1	410	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZBTB45_uc002qtf.3_Missense_Mutation_p.R40C	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	40	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GAAGCTTCACGAATGCGCACA	0.602000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			19		0	0	0.001523	0	0
IL37	27178	broad.mit.edu	37	2	113675341	113675341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113675341C>T	uc002tij.3	+	3	437	c.395C>T	c.(394-396)tCc>tTc	p.S132F	IL37_uc002tim.3_Missense_Mutation_p.S71F|IL37_uc002tik.3_Missense_Mutation_p.S111F|IL37_uc002til.3_Missense_Mutation_p.S92F|IL37_uc002tin.3_Missense_Mutation_p.S106F	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	132					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						AGTCATCCATCCCTTCAGCTG	0.498000														38			30		0	0	0.002445	0	0
DMPK	1760	broad.mit.edu	37	19	46278228	46278228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46278228G>A	uc002pdi.1	-	9	1475	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	DMPK_uc010xxs.1_Missense_Mutation_p.S315F|DMPK_uc002pdd.1_Missense_Mutation_p.S414F|DMPK_uc002pde.1_Missense_Mutation_p.S409F|DMPK_uc002pdg.1_Missense_Mutation_p.S399F|DMPK_uc002pdf.1_Missense_Mutation_p.S404F|DMPK_uc002pdh.1_Missense_Mutation_p.S399F|DMPK_uc010xxt.1_Missense_Mutation_p.S399F	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	414					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAGGAGTAGGAGTAGCCCAC	0.622000														17			11		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9088509	9088509	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9088509G>A	uc002mkp.3	-	0	3510	c.3306C>T	c.(3304-3306)ttC>ttT	p.F1102F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1102	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						ATGTGTCAACGAATTGGCTTG	0.428000														51			47		0	0	0.003610	0	0
IVL	3713	broad.mit.edu	37	1	152883961	152883961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152883961G>A	uc021ozl.1	+	0	1688	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	IVL_uc001fau.3_Missense_Mutation_p.G563E	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	563					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)			CCCACAAAGGGAGAAGTATTG	0.582000														25			31		0	0	0.003271	0	0
SPAG17	200162	broad.mit.edu	37	1	118535128	118535128	+	Silent	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:118535128T>G	uc001ehk.2	-	35	5390	c.5322A>C	c.(5320-5322)atA>atC	p.I1774I	SPAG17_uc021osr.1_Silent_p.I284I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1774						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)		CCTCATTCTTTATGACCTCAT	0.478000														48			38		0	0	0.002522	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555104	44555104	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44555104C>T	uc010xdb.2	-	0	1346	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	370	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GATCGGGCGTCCACCCTTCCA	0.587000														551			30		0	0	0.001485	0	0
ACER1	125981	broad.mit.edu	37	19	6309842	6309842	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6309842G>A	uc002mel.2	-	3	432	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	118						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGATGAACTGGGACCTGGGGA	0.617000														25			18		0	0	0.001523	0	0
FGF17	8822	broad.mit.edu	37	8	21903556	21903556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:21903556C>T	uc003xai.3	+	0	1374	c.73C>T	c.(73-75)Cct>Tct	p.P25S	FGF17_uc003xag.3_Intron|FGF17_uc003xah.3_Intron	NM_003867	NP_003858	O60258	FGF17_HUMAN	Homo sapiens fibroblast growth factor 17 (FGF17), mRNA.	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CACCCCTCTCCCTTGGATGGA	0.542000														3			13		0	0	0.001368	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345056	60345056	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:60345056C>T	uc010woz.2	-	11		c.887_splice	c.e11+1		DQ574804_uc010wpb.2_5'Flank|DQ573965_uc021ube.1_5'Flank					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GCCTCCTTACCCCATCAATCA	0.602000														4			56		0	0	0.003610	0	0
SLC5A8	160728	broad.mit.edu	37	12	101588903	101588903	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101588903C>T	uc001thz.4	-	3	897	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	169					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						AGACCACCCCCGTTGCCACTA	0.403000														19			10		0	0	0.000673	0	0
ZNF451	26036	broad.mit.edu	37	6	56999599	56999599	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:56999599C>T	uc003pdm.1	+	6	857	c.633C>T	c.(631-633)tcC>tcT	p.S211S	ZNF451_uc003pdl.3_Silent_p.S211S|ZNF451_uc003pdn.1_Silent_p.S211S|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.S211S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTTCAGCTCCTTTGCTTGTG	0.328000														31			28		0	0	0.004656	0	0
HECW1	23072	broad.mit.edu	37	7	43508659	43508659	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43508659G>A	uc003tid.1	+	15	3659	c.3054G>A	c.(3052-3054)ctG>ctA	p.L1018L	HECW1_uc011kbi.1_Silent_p.L984L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1018	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACACTCGGCTGGAACTGCCCC	0.552000														41			28		0	0	0.001271	0	0
GRIP2	80852	broad.mit.edu	37	3	14535314	14535314	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14535314C>T	uc021wtn.1	-	25	3279	c.3279G>A	c.(3277-3279)cgG>cgA	p.R1093R	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	997					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTCGAAGTCCCGTGTACGGA	0.632000														12			7		0	0	0.003080	0	0
ANO5	203859	broad.mit.edu	37	11	22301266	22301266	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22301266C>A	uc001mqi.2	+	21	3014	c.2697C>A	c.(2695-2697)gtC>gtA	p.V899V	ANO5_uc001mqj.2_Silent_p.V898V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	899						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAAGCATGTCATGATTGAGG	0.368000														28			27		7.01153e-11	1.47103e-10	0.001271	1	0
HECW1	23072	broad.mit.edu	37	7	43495908	43495908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43495908G>A	uc003tid.1	+	12	3118	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	HECW1_uc011kbi.1_Missense_Mutation_p.R804Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	838	WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R817Q(1)|p.R838G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGGAAGCTCGAATTGACAGC	0.517000														29			23		0	0	0.003954	0	0
LCE1E	353135	broad.mit.edu	37	1	152759961	152759961	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152759961C>T	uc021ozg.1	+	0	186	c.186C>T	c.(184-186)tcC>tcT	p.S62S	LCE1E_uc001fan.3_Silent_p.S62S	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	62	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGCTCCAGCTCTGGGG	0.662000														41			23		0	0	0.005443	0	0
STOX1	219736	broad.mit.edu	37	10	70645510	70645510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70645510C>T	uc001jos.2	+	2	2045	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	STOX1_uc001joq.3_Missense_Mutation_p.P543L|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.P543L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	653						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACCGAACACCCTCTGCTTGT	0.458000														64			46		0	0	0.003610	0	0
BVES	11149	broad.mit.edu	37	6	105572425	105572425	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:105572425G>A	uc003pqw.3	-	4	802	c.645C>T	c.(643-645)ttC>ttT	p.F215F	BVES_uc003pqx.3_Silent_p.F215F|BVES_uc003pqy.3_Silent_p.F215F	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	215					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AACATACCTGGAATTTTTCAC	0.353000														60			38		0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9063951	9063952	+	Missense_Mutation	DNP	CC	TT	TT	rs144610010	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9063951_9063952CC>TT	uc002mkp.3	-	2	23698_23699	c.23494_23495GG>AA	c.(23494-23496)gga>AAa	p.G7832K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7834	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCCTCAATCCAGGGGTCAGG	0.545000														37			15		0	0	0.004672	0	0
TIAM1	7074	broad.mit.edu	37	21	32595738	32595738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:32595738G>A	uc002yow.1	-	8	2451	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	TIAM1_uc011adk.1_Missense_Mutation_p.S660L|TIAM1_uc011adl.1_Missense_Mutation_p.S660L|TIAM1_uc002yox.1_Missense_Mutation_p.S268L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGAAACGATGATACCGAAAA	0.478000														48			34		0	0	0.003271	0	0
RGPD4	285190	broad.mit.edu	37	2	108488470	108488470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108488470C>T	uc010ywk.2	+	19	4092	c.4010C>T	c.(4009-4011)cCt>cTt	p.P1337L	RGPD4_uc002tdu.3_Missense_Mutation_p.P524L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1337	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TACTTTGAACCTGTTGTTCCT	0.398000														110			70		0	0	0.003610	0	0
ASCC2	84164	broad.mit.edu	37	22	30209463	30209463	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30209463G>A	uc003agr.3	-	7	933	c.789C>T	c.(787-789)ttC>ttT	p.F263F	ASCC2_uc011akr.2_Silent_p.F187F|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AAGCCAAAGGGAAGATATCCA	0.418000														42			26		0	0	0.004656	0	0
ACACB	32	broad.mit.edu	37	12	109660623	109660623	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109660623T>A	uc001tob.3	+	25	3817	c.3698T>A	c.(3697-3699)cTc>cAc	p.L1233H	ACACB_uc001toc.3_Missense_Mutation_p.L1233H	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1233					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCTCCCACCTCCCCTCCTAC	0.642000														7			5		0	0	0.001984	0	0
CDK9	1025	broad.mit.edu	37	9	130550269	130550269	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130550269C>T	uc004bse.2	+	3	432	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	103	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						ACCTGGTGTTCGACTTCTGCG	0.488000														11			53		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152279872	152279872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152279872G>A	uc001ezu.1	-	2	7526	c.7490C>T	c.(7489-7491)tCc>tTc	p.S2497F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2497	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2497P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCCTGGGATGTGGTGTG	0.557000									Ichthyosis					177			88		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	39062779	39062779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39062779G>A	uc002oit.3	+	94	13997	c.13867G>A	c.(13867-13869)Gat>Aat	p.D4623N	RYR1_uc002oiu.3_Missense_Mutation_p.D4618N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4623					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAGAGGGCGATGAGGATGA	0.617000														71			34		0	0	0.005524	0	0
LRP1B	53353	broad.mit.edu	37	2	141777596	141777596	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141777596T>A	uc002tvj.1	-	11	2837	c.1865A>T	c.(1864-1866)aAa>aTa	p.K622I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	622					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)		ATTAATGGTTTTCCTATGGCC	0.413000										TSP Lung(27;0.18)				61			45		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7528404	7528404	+	Missense_Mutation	SNP	C	T	T	rs150856487	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7528404C>T	uc010sge.2	-	9	2634	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	CD163L1_uc001qsy.3_Missense_Mutation_p.E860K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	860	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGGAACTTTTCGGCCCAAGTT	0.458000														49			27		0	0	0.001512	0	0
TP63	8626	broad.mit.edu	37	3	189349216	189349217	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:189349216_189349217CC>TT	uc003fry.2	+	1	1	c.-88_splice	c.e1-1		TP63_uc003frx.2_Splice_Site|TP63_uc003frz.2_Splice_Site|TP63_uc010hzc.1_Splice_Site	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.						DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTTTAGCCTCCCGGCTTTATA	0.342000										HNSCC(45;0.13)				6			14		0	0	0.004672	0	0
RCAN2	10231	broad.mit.edu	37	6	46190958	46190958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46190958C>T	uc003oyc.2	-	4	805	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	RCAN2_uc003oyb.2_Missense_Mutation_p.E172K|RCAN2_uc003oyd.2_Missense_Mutation_p.E218K	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	172					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGGTCCTCTTCTTCCTCTATG	0.537000														97			61		0	0	0.003610	0	0
C1orf106	55765	broad.mit.edu	37	1	200880918	200880918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200880918C>T	uc001gvo.3	+	8	1594	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	C1orf106_uc010ppm.2_Missense_Mutation_p.P433S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCTATTTCCCGGCGGGGCG	0.731000														15			10		0	0	0.000673	0	0
LRCH4	4034	broad.mit.edu	37	7	100175318	100175318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100175318G>A	uc003uvj.3	-	8	1138	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	362					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCTCCCCGGGGACATGGCT	0.662000														87			40		0	0	0.003610	0	0
TMEM156	80008	broad.mit.edu	37	4	38995416	38995416	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:38995416G>A	uc003gto.3	-	2	669	c.561C>T	c.(559-561)atC>atT	p.I187I	TMEM156_uc010ifj.3_Silent_p.I187I	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	187						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGTATTCCATGATTCTACAAG	0.353000														68			41		0	0	0.002522	0	0
WDR59	79726	broad.mit.edu	37	16	74908169	74908169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:74908169G>A	uc002fdh.1	-	25	2965	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	WDR59_uc002fdf.1_Missense_Mutation_p.R400W|WDR59_uc002fdg.1_Missense_Mutation_p.R547W	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	955										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCCTGGGTCCGAAACCACTCC	0.572000														9			6		0	0	0.001168	0	0
XDH	7498	broad.mit.edu	37	2	31589781	31589781	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:31589781C>T	uc002rnv.1	-	20	2356	c.2277G>A	c.(2275-2277)ggG>ggA	p.G759G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	759					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)	GCTCCATCTCCCCTGCCTCGC	0.557000														49			36		0	0	0.004878	0	0
AGT	183	broad.mit.edu	37	1	230841680	230841680	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:230841680G>A	uc001hty.4	-	3	1632	c.1124_splice	c.e3+1	p.R375_splice	AGT_uc009xff.3_Splice_Site_p.R347_splice	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	375			R -> Q (in RTD).		G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GGCTCCTACCGGGGAGATAGT	0.607000														59			70		0	0	0.003610	0	0
EXPH5	23086	broad.mit.edu	37	11	108383883	108383883	+	Missense_Mutation	SNP	G	T	T	rs115994428	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108383883G>T	uc001pkk.3	-	5	2462	c.2351C>A	c.(2350-2352)cCg>cAg	p.P784Q	EXPH5_uc010rvz.2_Missense_Mutation_p.P628Q|EXPH5_uc010rvy.2_Missense_Mutation_p.P596Q	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	784					intracellular protein transport		Rab GTPase binding	p.P784L(2)|p.P784P(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATCTGTGTGCGGTATATACAT	0.383000														139			6		0.00116845	0.00243511	0.001168	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18808982	18808982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:18808982G>A	uc001bax.3	+	0	1559	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E285K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	503						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCCCAAGGAAGACTCCGG	0.697000														33			31		0	0	0.002096	0	0
DIAPH3	81624	broad.mit.edu	37	13	60548485	60548485	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:60548485C>T	uc001vht.3	-	15	1869	c.1650_splice	c.e15+1	p.Q550_splice	DIAPH3_uc001vhu.3_Splice_Site_p.Q287_splice|DIAPH3_uc001vhv.3_Splice_Site_p.Q128_splice	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	550					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGGAATTTTACCTGAGACTTA	0.348000														56			25		0	0	0.005443	0	0
IGSF10	285313	broad.mit.edu	37	3	151171421	151171421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151171421G>A	uc011bod.2	-	2	466	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	156					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)			TGCACCAGGCGGAGAAAGTTG	0.408000														32			28		0	0	0.004656	0	0
GALNT5	11227	broad.mit.edu	37	2	158140883	158140883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:158140883C>T	uc002tzg.3	+	1	1799	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	515	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTGAGATCTGTTCACAGT	0.488000														36			27		0	0	0.005443	0	0
CCDC60	160777	broad.mit.edu	37	12	119968742	119968742	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:119968742C>T	uc001txe.3	+	12	1890	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	475										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAAAAAGATCCTGGTGAAAC	0.488000														58			33		0	0	0.001706	0	0
GPLD1	2822	broad.mit.edu	37	6	24467020	24467020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24467020G>A	uc003ned.1	-	9	820	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	GPLD1_uc010jpr.1_Missense_Mutation_p.P74S|GPLD1_uc010jps.1_Missense_Mutation_p.P237S	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	237						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						ACCAAAAACGGGGACTTTGTA	0.343000														25			17		0	0	0.001216	0	0
CLCA4	22802	broad.mit.edu	37	1	87040390	87040390	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87040390G>A	uc009wcs.3	+	9	1679	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	CLCA4_uc009wct.3_Silent_p.V308V|CLCA4_uc009wcu.3_Silent_p.V365V	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	545						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)		ATTTCACAGTGGATGCAACTT	0.413000														61			26		0	0	0.001271	0	0
HCRTR1	3061	broad.mit.edu	37	1	32089222	32089222	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32089222G>A	uc009vtx.2	+	6	1222	c.837G>A	c.(835-837)cgG>cgA	p.R279R	HCRTR1_uc001btc.4_Silent_p.R193R|HCRTR1_uc001btd.2_Silent_p.R279R|HCRTR1_uc010ogl.2_Silent_p.R279R	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	279			R -> Q (in dbSNP:rs7516785).		feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCCAGCCCCGGGCCCGCGCCT	0.662000														15			15		0	0	0.004990	0	0
PTPRD	5789	broad.mit.edu	37	9	8500768	8500768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:8500768C>T	uc003zkk.3	-	23	2857	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	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.	705	Fibronectin type-III 4.				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)		TTCATTGGTTCGAATCAACAC	0.473000										TSP Lung(15;0.13)				10			17		0	0	0.004990	0	0
OR4C46	119749	broad.mit.edu	37	11	51515761	51515761	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:51515761C>T	uc010ric.2	+	0	480	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F160F(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGATCCTCTTCATCTTCCAAT	0.468000														33			30		0	0	0.002836	0	0
PATL1	219988	broad.mit.edu	37	11	59425140	59425140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59425140G>A	uc001noe.4	-	4	627	c.484C>T	c.(484-486)Cca>Tca	p.P162S	PATL1_uc009yms.1_Missense_Mutation_p.P162S|PATL1_uc010rkw.2_5'UTR	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	162	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCATCTTCTGGACCCTGGGGG	0.463000														28			24		0	0	0.005443	0	0
CCDC149	91050	broad.mit.edu	37	4	24833249	24833249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:24833249G>A	uc003grc.3	-	8	943	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Missense_Mutation_p.H282Y|CCDC149_uc003gre.3_Missense_Mutation_p.H227Y|CCDC149_uc003gra.2_Missense_Mutation_p.H155Y	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	282										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTGCATCCATGATCCTCAGAT	0.443000														22			17		0	0	0.000743	0	0
GAS8	2622	broad.mit.edu	37	16	90104193	90104193	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:90104193C>T	uc002fqi.1	+	7	1070	c.948C>T	c.(946-948)gtC>gtT	p.V316V	GAS8_uc010vps.1_Silent_p.V291V|GAS8_uc002fqh.2_Silent_p.V233V|GAS8_uc010vpv.1_Silent_p.V287V|GAS8_uc010cjc.1_Silent_p.V233V|GAS8_uc010vpw.1_Silent_p.V233V|GAS8_uc002fqj.1_Silent_p.V124V|AK127378_uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	316					negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GTTTGAAAGTCAGGGAGAAAG	0.532000														66			53		0	0	0.003610	0	0
FAM26E	254228	broad.mit.edu	37	6	116832945	116832945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:116832945G>A	uc003pwy.3	+	0	138	c.86G>A	c.(85-87)gGa>gAa	p.G29E	BET3L_uc003pwx.3_Intron|BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	29						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CTGACCGTGGGAAGTGAGCGT	0.463000														67			40		0	0	0.001287	0	0
HTR1A	3350	broad.mit.edu	37	5	63256842	63256842	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:63256842C>T	uc011cqt.2	-	0	705	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	235					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCGCTCCGGTCTTCTCCACCT	0.612000														11			26		0	0	0.001512	0	0
XIRP2	129446	broad.mit.edu	37	2	168098326	168098326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168098326C>T	uc002udx.3	+	7	1171	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	XIRP2_uc010fpn.3_Missense_Mutation_p.S394L|XIRP2_uc010fpo.3_Missense_Mutation_p.S361L|XIRP2_uc002udy.3_Missense_Mutation_p.S186L|XIRP2_uc010fpq.3_Missense_Mutation_p.S139L|XIRP2_uc010fpr.3_Missense_Mutation_p.S139L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	186					actin cytoskeleton organization	cell junction	actin binding	p.S361*(2)|p.S394*(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						CCAAAGGTTTCGACTAAGTTG	0.363000														46			38		0	0	0.004289	0	0
OR52A5	390054	broad.mit.edu	37	11	5153391	5153391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5153391G>A	uc010qyx.2	-	0	482	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GAGCCCTAAGGAAGGTATTAT	0.458000														34			27		0	0	0.004656	0	0
MECOM	2122	broad.mit.edu	37	3	168861491	168861491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168861491C>T	uc011bpj.1	-	2	908	c.505G>A	c.(505-507)Gat>Aat	p.D169N	MECOM_uc003ffj.3_Missense_Mutation_p.D45N|MECOM_uc003ffi.3_5'UTR|MECOM_uc011bpi.1_5'UTR|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffl.2_Missense_Mutation_p.D141N|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Missense_Mutation_p.D169N|MECOM_uc003ffm.1_Missense_Mutation_p.D45N	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.T168T(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						CATACCTGATCATTTATCTGG	0.413000														49			29		0	0	0.001271	0	0
PDE6C	5146	broad.mit.edu	37	10	95422875	95422875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95422875G>A	uc001kiu.4	+	20	2596	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	820					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGATGAGTATGATGCAAAGAT	0.423000														28			23		0	0	0.003330	0	0
LALBA	3906	broad.mit.edu	37	12	48963728	48963728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48963728C>T	uc001rrt.3	-	0	102	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	26					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGGGACAGCTCACATTTTGTG	0.498000														24			16		0	0	0.000743	0	0
SCARA5	286133	broad.mit.edu	37	8	27764708	27764708	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:27764708C>T	uc003xgj.3	-	5	1664	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	SCARA5_uc010luz.3_Silent_p.G126G|SCARA5_uc003xgk.3_Silent_p.G308G|SCARA5_uc003xgl.3_Silent_p.G351G	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	351	Collagen-like.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCCCCAGCTTCCCATCATCGC	0.592000														18			60		0	0	0.003610	0	0
ADD1	118	broad.mit.edu	37	4	2906795	2906795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:2906795C>T	uc003gfq.3	+	9	1654	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	ADD1_uc003gfo.3_Missense_Mutation_p.S489L|ADD1_uc003gfp.3_Intron|ADD1_uc003gfr.3_Intron|ADD1_uc003gfs.3_Intron|ADD1_uc003gft.3_Missense_Mutation_p.S489L	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	471					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTCTCTCTCGTCCGGTGTC	0.522000														25			15		0	0	0.004007	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671359	31671359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:31671359G>A	uc010zue.2	+	2	371	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	119						cytoplasm|extracellular region	lipid binding										AGGGACCTCCGAAACAGTGGC	0.587000														33			45		0	0	0.002522	0	0
ZNF236	7776	broad.mit.edu	37	18	74639409	74639409	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:74639409C>A	uc002lmi.3	+	23	4542	c.4344C>A	c.(4342-4344)acC>acA	p.T1448T	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1448					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCACAGTGACCTCTGCGAACC	0.557000														16			15		4.14922e-12	8.71218e-12	0.004007	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138713098	138713098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138713098G>A	uc004cgr.4	-	10	3409	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P1027S|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P859S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1137						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGCTGGCAGGGAAGGGTCTC	0.637000														13			54		0	0	0.003610	0	0
AKR1D1	6718	broad.mit.edu	37	7	137782621	137782621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:137782621G>A	uc003vtz.3	+	3	475	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.E130K|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.E130K|AKR1D1_uc011kqe.1_Missense_Mutation_p.E130K|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	130					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCCAGGAGATGAAATATACCC	0.294000														47			63		0	0	0.003610	0	0
AK098438	0	broad.mit.edu	37	1	21752741	21752741	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21752741G>A	uc001bep.1	-	2		c.235C>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		CACGTCAAGAGAAAAGCCAAC	0.453000														98			17		0	0	0.003330	0	0
LZTR1	8216	broad.mit.edu	37	22	21329051	21329051	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:21329051C>T	uc002ztj.2	+	7	884	c.666C>T	c.(664-666)atC>atT	p.I222I	LZTR1_uc002ztk.2_Silent_p.I222I|LZTR1_uc002ztl.2_Silent_p.I228I|LZTR1_uc011ahx.1_Silent_p.I210I	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGACCGGATCGTCCTGTGCA	0.652000														25			15		0	0	0.000958	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650465	94650465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:94650465C>T	uc001dqj.4	-	17	2441	c.2072G>A	c.(2071-2073)tGt>tAt	p.C691Y	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.C257Y	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	691	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTCTGAGGCACATATTTTGAG	0.328000														40			30		0	0	0.002836	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132169	59132169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59132169C>T	uc010rks.2	+	0	238	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACAGTCCCCAAGATGCT	0.413000														67			44		0	0	0.003610	0	0
SPERT	220082	broad.mit.edu	37	13	46287745	46287745	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:46287745C>T	uc001van.1	+	2	665	c.585C>T	c.(583-585)atC>atT	p.I195I	SPERT_uc001vao.2_Silent_p.I159I	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	195						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGAACAAGATCCTACAGGTCT	0.632000														30			20		0	0	0.001216	0	0
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	A	A	rs150229714		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:24776021G>A	uc003xed.4	+	2	2686	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_uc011lac.1_Missense_Mutation_p.E667K|NEFM_uc010lue.3_Missense_Mutation_p.E509K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	885	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)		AAAGGTTGAAGAGCATGAAGA	0.428000														17			84		0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28424362	28424362	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:28424362A>G	uc001zbj.3	-	57	9051	c.8945T>C	c.(8944-8946)gTt>gCt	p.V2982A		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2982					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACGAAGGAACCTTTATCTA	0.289000														71			37		0	0	0.001485	0	0
FCRL4	83417	broad.mit.edu	37	1	157545358	157545358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157545358C>T	uc001fqw.3	-	11	1640	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	502						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTGAGTTATCTGGGTGTTGT	0.438000														41			12		0	0	0.004990	0	0
TPRKB	51002	broad.mit.edu	37	2	73957719	73957719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:73957719G>A	uc002sjn.2	-	3	520	c.409C>T	c.(409-411)Cct>Tct	p.P137S	TPRKB_uc002sjm.2_Missense_Mutation_p.P176S|TPRKB_uc002sjl.2_Missense_Mutation_p.P104S|TPRKB_uc002sjo.2_Missense_Mutation_p.P137S|TPRKB_uc010yrm.1_Missense_Mutation_p.P104S	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	Homo sapiens TP53RK binding protein (TPRKB), mRNA.	137					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						ATTATTTCAGGAAGATTTTTC	0.318000														47			25		0	0	0.005443	0	0
ANKRD33	341405	broad.mit.edu	37	12	52285033	52285033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52285033G>A	uc001rzd.3	+	4	1481	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.G243E|ANKRD33_uc001rze.3_Missense_Mutation_p.E331K|ANKRD33_uc001rzg.4_Missense_Mutation_p.G170E|ANKRD33_uc001rzi.4_Missense_Mutation_p.G243E	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCGATACCAGGAGCTCAGGAT	0.577000														11			12		0	0	0.000978	0	0
TFDP1	7027	broad.mit.edu	37	13	114287579	114287579	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:114287579C>T	uc001vtw.3	+	5	665	c.453C>T	c.(451-453)aaC>aaT	p.N151N	TFDP1_uc010tkd.2_Silent_p.N56N|TFDP1_uc010tke.2_Silent_p.N56N|TFDP1_uc001vty.4_Silent_p.N151N|TFDP1_uc010agx.3_Silent_p.N151N	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	151					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTGCCGACAACCACATCTTAC	0.562000										TSP Lung(29;0.18)				3			17		0	0	0.002299	0	0
POU6F2	11281	broad.mit.edu	37	7	39472834	39472834	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:39472834G>A	uc003thb.2	+	7	1328	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	POU6F2_uc022acb.1_Silent_p.V395V	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	395	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						TCCTGCCCGTGATCAACACCC	0.602000														19			13		0	0	0.000743	0	0
C6	729	broad.mit.edu	37	5	41195936	41195936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41195936C>T	uc003jmk.2	-	4	755	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	C6_uc003jml.1_Missense_Mutation_p.R182Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	182	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTATACTTCCGTGTGCATAC	0.443000														50			32		0	0	0.002445	0	0
IGSF8	93185	broad.mit.edu	37	1	160062869	160062869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160062869G>A	uc001fva.3	-	3	1202	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	IGSF8_uc001fuz.3_Missense_Mutation_p.S386F|IGSF8_uc009wtf.3_Missense_Mutation_p.S386F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	386	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTATGTTCTGGATGCCACCTT	0.662000														14			13		0	0	0.003163	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535308	90535308	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90535308C>T	uc010mqi.3	+	3	515	c.486C>T	c.(484-486)tcC>tcT	p.S162S	FAM75C1_uc004apq.4_Silent_p.S145S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCATTGTCTCCCCGTTAGCTT	0.597000														15			106		0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576786	33576786	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:33576786C>T	uc003jia.1	-	18	3508	c.3345G>A	c.(3343-3345)tcG>tcA	p.S1115S	ADAMTS12_uc010iuq.1_Silent_p.S1030S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1115	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCCTCCCTCCGAGGTAGGAC	0.493000										HNSCC(64;0.19)				50			27		0	0	0.001061	0	0
NPIPL3	23117	broad.mit.edu	37	16	21416211	21416211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21416211G>A	uc021tei.1	-	7	1163	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	LOC23117_uc021tel.1_Intron|LOC23117_uc010bwt.2_Non-coding_Transcript|NPIPL3_uc021tem.1_Missense_Mutation_p.P330L|NPIPL3_uc002diu.1_Non-coding_Transcript|LOC23117_uc021ten.1_Non-coding_Transcript|NPIPL3_uc010bwu.1_Missense_Mutation_p.P166L|NPIPL3_uc002dix.1_Missense_Mutation_p.P349L	NM_130464	NP_569731	Q92617	NPPL3_HUMAN	Homo sapiens nuclear pore complex interacting protein-like 3 (NPIPL3), mRNA.	349						integral to membrane											gggtggaAGGGGAGTGAGTAG	0.562000														44			11		0	0	0.004007	0	0
MIER2	54531	broad.mit.edu	37	19	307127	307127	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:307127G>A	uc002lok.1	-	12	1617	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		ACTGTGACAGGGGCTCCGAGT	0.672000														5			10		0	0	0.000673	0	0
IFNA6	3443	broad.mit.edu	37	9	21350398	21350398	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21350398G>A	uc011lni.2	-	0	489	c.489C>T	c.(487-489)gcC>gcT	p.A163A		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	163					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			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CAACCTCCCAGGCACAAGGGC	0.453000														41			81		0	0	0.003610	0	0
FOXP4	116113	broad.mit.edu	37	6	41558079	41558079	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:41558079C>T	uc003oql.3	+	11	1886	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	FOXP4_uc003oqm.3_Silent_p.I474I|FOXP4_uc003oqn.3_Silent_p.I463I	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	476					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCCCTCATCCGCCAGGTGA	0.667000														41			28		0	0	0.002836	0	0
UPK3A	7380	broad.mit.edu	37	22	45689117	45689117	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:45689117C>T	uc003bfy.3	+	4	654	c.627C>T	c.(625-627)atC>atT	p.I209I	UPK3A_uc010gzy.3_Silent_p.I88I	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	209					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAGGCATGATCGTCATCACTT	0.617000														25			20		0	0	0.001523	0	0
MYH11	4629	broad.mit.edu	37	16	15872668	15872668	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15872668C>T	uc002ddx.3	-	7	887	c.780G>A	c.(778-780)acG>acA	p.T260T	MYH11_uc002ddv.3_Silent_p.T260T|MYH11_uc002ddw.3_Silent_p.T253T|MYH11_uc002ddy.3_Silent_p.T253T|MYH11_uc010bvg.3_Silent_p.T85T|MYH11_uc002dea.1_5'UTR	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	253	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	p.T260T(2)|p.T253T(2)		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						CGATGTAACCCGTGACGTCGA	0.562000			T	CBFB	AML									32			15		0	0	0.001882	0	0
C11orf70	85016	broad.mit.edu	37	11	101951950	101951950	+	Nonsense_Mutation	SNP	C	T	T	rs140641107		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:101951950C>T	uc001pgp.3	+	5	646	c.613C>T	c.(613-615)Cga>Tga	p.R205*	C11orf70_uc001pgq.3_Nonsense_Mutation_p.R167*	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	205										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTTAGTGTTCGAAAGAATCC	0.299000														51			19		0	0	0.001216	0	0
TNXB	7148	broad.mit.edu	37	6	32012825	32012825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32012825C>T	uc003nzl.2	-	31	11081	c.10879G>A	c.(10879-10881)Gaa>Aaa	p.E3627K	TNXB_uc003nzg.1_Missense_Mutation_p.E58K|TNXB_uc003nzh.1_Missense_Mutation_p.E96K	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3674	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						CGCTTCCCTTCATGGAGGCCA	0.652000														141			32		0	0	0.001485	0	0
UBE4A	9354	broad.mit.edu	37	11	118255600	118255600	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118255600C>T	uc001psw.3	+	14	2487	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F	UBE4A_uc001psv.3_Silent_p.F791F	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	784					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCACTTTTCCTCCGCTTTC	0.363000														68			63		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661333	176661333	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176661333C>T	uc001gkz.3	+	5	3667	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	835					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Q835H(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						CCTAGTCTATCAGCAGTGGAC	0.502000														52			56		0	0	0.003610	0	0
SPRR4	163778	broad.mit.edu	37	1	152944429	152944429	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152944429G>A	uc001fav.1	+	1	126	c.63G>A	c.(61-63)caG>caA	p.Q21Q	SPRR4_uc021ozm.1_Silent_p.Q21Q	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	21	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCAGCAGCAGCAAGTGAAGC	0.577000														35			25		0	0	0.004656	0	0
AHDC1	27245	broad.mit.edu	37	1	27878223	27878223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:27878223G>A	uc021ojw.1	-	0	404	c.404C>T	c.(403-405)tCc>tTc	p.S135F	AHDC1_uc009vsy.3_Missense_Mutation_p.S135F|AHDC1_uc009vsz.1_Missense_Mutation_p.S135F|AHDC1_uc001boh.1_Missense_Mutation_p.S8F	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	135	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAGGTCCTGGGAGAGGCGTGT	0.647000														108			69		0	0	0.003610	0	0
PIGN	23556	broad.mit.edu	37	18	59774098	59774098	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:59774098T>A	uc021ulb.1	-	15	1723	c.1691A>T	c.(1690-1692)tAc>tTc	p.Y564F	PIGN_uc021ulc.1_Missense_Mutation_p.Y190F|PIGN_uc021uld.1_Missense_Mutation_p.Y190F	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	564					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CATATAGCGGTAGAAAAAACT	0.373000														14			4		0	0	0.000602	0	0
GRID1	2894	broad.mit.edu	37	10	87362269	87362269	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:87362269G>A	uc001kdl.1	-	15	2892	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.L502L|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	931						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCTCTGGCAGAAAGGTGCTG	0.657000										Multiple Myeloma(13;0.14)				17			12		0	0	0.002450	0	0
SYVN1	84447	broad.mit.edu	37	11	64900474	64900474	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64900474G>A	uc001odb.3	-	3	391	c.297C>T	c.(295-297)ttC>ttT	p.F99F	SYVN1_uc001odc.3_Silent_p.F99F|SYVN1_uc009yqc.3_Silent_p.F99F	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	99					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGCGGGGGCTGAAGTCATCCC	0.542000														22			7		0	0	0.001984	0	0
PLBD1	79887	broad.mit.edu	37	12	14659889	14659889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:14659889C>T	uc001rcc.1	-	8	1511	c.1350G>A	c.(1348-1350)atG>atA	p.M450I		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	450					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGATATATTTCATGGATGCCG	0.398000														67			37		0	0	0.001485	0	0
FNDC5	252995	broad.mit.edu	37	1	33333848	33333848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:33333848C>T	uc001bwg.3	-	2	342	c.127G>A	c.(127-129)Gag>Aag	p.E43K	FNDC5_uc021okv.1_Missense_Mutation_p.E43K|FNDC5_uc001bwf.2_Missense_Mutation_p.E43K	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	102	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGCACAGGCTCGCTGGCTGGG	0.617000														49			35		0	0	0.003755	0	0
POLR3B	55703	broad.mit.edu	37	12	106804625	106804625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:106804625G>A	uc001tlp.3	+	11	1210	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	POLR3B_uc001tlq.3_Missense_Mutation_p.A272T	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	330					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAATTTCCGAGCCAAATGTAT	0.353000														28			15		0	0	0.004990	0	0
LRRC1	55227	broad.mit.edu	37	6	53764587	53764587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:53764587G>A	uc003pcd.1	+	7	1206	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	229						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGATGTCTCTGAAAACAGGTT	0.403000														31			29		0	0	0.001786	0	0
COL1A1	1277	broad.mit.edu	37	17	48272987	48272987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48272987G>A	uc002iqm.3	-	16	1222	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	366	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACCCTGGGGACCTTCAGAG	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			55		0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29294859	29294859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29294859G>A	uc002rmt.2	-	0	2269	c.2269C>T	c.(2269-2271)Ccc>Tcc	p.P757S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	757					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGAGGCAGGGACTTGCCCCA	0.542000														19			18		0	0	0.000743	0	0
EXT2	2132	broad.mit.edu	37	11	44219521	44219521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:44219521C>T	uc001mya.3	+	8	1603	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	EXT2_uc010rfo.2_Missense_Mutation_p.S511F|EXT2_uc009ykt.3_Missense_Mutation_p.S493F|EXT2_uc001mxz.3_Missense_Mutation_p.S483F	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	483					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCAGTCTATCCAAACTACTT	0.488000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					47			19		0	0	0.002780	0	0
ACP1	52	broad.mit.edu	37	2	277050	277050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:277050C>T	uc002qwf.3	+	4	460	c.364C>T	c.(364-366)Cca>Tca	p.P122S	ACP1_uc002qwg.3_Missense_Mutation_p.P122S|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	122						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GAGCTATGATCCACAAAAACA	0.308000														40			19		0	0	0.001882	0	0
CCRL2	9034	broad.mit.edu	37	3	46450373	46450373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46450373C>T	uc010hjg.3	+	1	952	c.839C>T	c.(838-840)tCc>tTc	p.S280F	CCRL2_uc003cpp.4_Missense_Mutation_p.S268F|CCRL2_uc010hjf.3_Missense_Mutation_p.S268F|CCRL2_uc021wxc.1_Missense_Mutation_p.S268F	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	268					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GAACACTTCTCCCTGAGTGAC	0.463000														150			96		0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31538379	31538379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31538379G>A	uc010dmi.3	-	6	1358	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	NOL4_uc010xbs.2_Missense_Mutation_p.P69S|NOL4_uc002kxr.4_Missense_Mutation_p.P190S|NOL4_uc010xbt.2_Missense_Mutation_p.P280S|NOL4_uc010dmh.3_Missense_Mutation_p.P280S|NOL4_uc010xbu.2_Missense_Mutation_p.P354S|NOL4_uc002kxt.4_Missense_Mutation_p.P354S|NOL4_uc010xbv.1_Missense_Mutation_p.P103S	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	354						nucleolus	RNA binding	p.S353Y(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTATGTGCAGGAGACTGAAAA	0.383000														43			33		0	0	0.002096	0	0
PXDNL	137902	broad.mit.edu	37	8	52321172	52321172	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:52321172G>A	uc003xqu.4	-	16	3113	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1004					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)				CCGCGCCCACGATCTTCCTGG	0.622000														3			12		0	0	0.001368	0	0
N4BP2	55728	broad.mit.edu	37	4	40119499	40119499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:40119499C>T	uc003guy.4	+	7	2013	c.1675C>T	c.(1675-1677)Cat>Tat	p.H559Y	N4BP2_uc010ifq.3_Missense_Mutation_p.H479Y|N4BP2_uc010ifr.3_Missense_Mutation_p.H479Y	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	559						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCGTAACATTCATGGGGTAAG	0.308000														30			36		0	0	0.004878	0	0
CCDC30	728621	broad.mit.edu	37	1	43011224	43011224	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43011224C>T	uc009vwk.1	+	3	509	c.399C>T	c.(397-399)agC>agT	p.S133S	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	133								p.S133S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATTCAAAGCCGAAAGGAAG	0.333000														47			34		0	0	0.003271	0	0
CCR9	10803	broad.mit.edu	37	3	45942944	45942944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45942944G>A	uc003coz.2	+	2	844	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.G210R|CCR9_uc003cpa.2_Missense_Mutation_p.G210R|CCR9_uc021wwv.1_Missense_Mutation_p.G210R	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	222					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		p.L221L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGTCATTCTGGGGTTCTTCCT	0.483000														35			38		0	0	0.001485	0	0
PCSK7	9159	broad.mit.edu	37	11	117096732	117096732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117096732G>A	uc001pqr.3	-	5	976	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	259	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCAGTACCCGGATACCTAGG	0.542000			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			14		0	0	0.004990	0	0
IFNGR2	3460	broad.mit.edu	37	21	34793917	34793917	+	Missense_Mutation	SNP	C	G	G	rs121913200		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:34793917C>G	uc002yrp.4	+	2	985	c.337C>G	c.(337-339)Cta>Gta	p.L113V		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	113	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	p.T112T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CAATGTCACTCTACGCCTTCG	0.493000														51			29		0	0	0.001512	0	0
COMP	1311	broad.mit.edu	37	19	18895057	18895057	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18895057C>T	uc002nke.3	-	16	2067	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	COMP_uc002nkd.3_Silent_p.K644K|COMP_uc010xqj.2_Silent_p.K624K	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	677	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACTTCTTGTCCTTCCAACCCA	0.632000														56			26		0	0	0.001061	0	0
SLC2A14	144195	broad.mit.edu	37	12	7985410	7985410	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7985410C>A	uc010sgh.2	-	2	154	c.133_splice	c.e2-1	p.V45_splice	SLC2A14_uc001qtk.3_Splice_Site_p.V30_splice|SLC2A14_uc001qtl.3_Splice_Site_p.V7_splice|SLC2A14_uc001qtm.3_Splice_Site_p.V7_splice|SLC2A14_uc010sgg.2_Splice_Site|SLC2A14_uc001qtn.3_Splice_Site_p.V30_splice|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCTGGGGTGACCTGGAGAGAC	0.458000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			21		1.9806e-07	4.14438e-07	0.002299	1	0
PLCB2	5330	broad.mit.edu	37	15	40590442	40590442	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40590442G>A	uc001zld.3	-	10	1438	c.1137C>T	c.(1135-1137)acC>acT	p.T379T	PLCB2_uc010bbo.3_Silent_p.T379T|PLCB2_uc010ucm.2_Silent_p.T379T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	379	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M378I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGATGTCTGTGGTCATGGTGA	0.607000														13			9		0	0	0.000978	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867829	57867829	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57867829G>A	uc001sod.3	-	18	2377	c.2184C>T	c.(2182-2184)gcC>gcT	p.A728A	ARHGAP9_uc001sny.3_Intron|ARHGAP9_uc001snz.3_Silent_p.A454A|ARHGAP9_uc001soa.3_Silent_p.A327A|ARHGAP9_uc001sob.3_Silent_p.A638A|ARHGAP9_uc001soc.3_Silent_p.A638A|ARHGAP9_uc001soe.1_Silent_p.A717A	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	657	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTTACCAAGGGCAGCACGGA	0.537000														12			7		0	0	0.001984	0	0
ANAPC5	51433	broad.mit.edu	37	12	121784743	121784743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121784743G>A	uc001uag.3	-	2	475	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ANAPC5_uc001uah.3_Missense_Mutation_p.S19F	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	118					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCAGAGAAAGAATCTGAAAG	0.383000														245			135		0	0	0.003610	0	0
RECQL4	9401	broad.mit.edu	37	8	145741607	145741607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145741607G>A	uc003zdj.3	-	4	938	c.896C>T	c.(895-897)cCa>cTa	p.P299L	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	299					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGTTCCCCTGGAGGGTCTTC	0.662000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					13			14		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179594213	179594213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179594213C>T	uc021vsy.1	-	60	15163	c.14938G>A	c.(14938-14940)Gga>Aga	p.G4980R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1641R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5907	Ig-like 30.						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)			GGAGGTGTTCCCGTAACTTCA	0.443000														53			35		0	0	0.003755	0	0
OR1S1	219959	broad.mit.edu	37	11	57982549	57982549	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57982549C>T	uc010rkc.2	+	0	333	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGAGCTGCATCACACAGATGT	0.428000														75			43		0	0	0.001706	0	0
TFB2M	64216	broad.mit.edu	37	1	246714589	246714589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:246714589G>A	uc001ibn.3	-	4	846	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	TFB2M_uc010pys.1_Non-coding_Transcript	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	Homo sapiens transcription factor B2, mitochondrial (TFB2M), nuclear gene encoding mitochondrial protein, mRNA.	241					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGATTTCCGGGATCTGCCATT	0.308000														63			33		0	0	0.004289	0	0
BCL11A	53335	broad.mit.edu	37	2	60689273	60689273	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:60689273G>A	uc002sae.1	-	3	1002	c.774C>T	c.(772-774)cgC>cgT	p.R258R	BCL11A_uc002sab.3_Silent_p.R258R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Silent_p.R224R|BCL11A_uc002sad.1_Silent_p.R106R|BCL11A_uc002saf.1_Silent_p.R224R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	258					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGGTGGAAAGCGCCCTTCTG	0.582000			T	IGH@	B-CLL									156			144		0	0	0.003610	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42287671	42287671	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42287671G>A	uc021sjp.1	-	11	1134	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.A2A	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	366	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACCCCCAGTGGCCATGATGG	0.572000														13			7		0	0	0.004482	0	0
MSMO1	6307	broad.mit.edu	37	4	166261499	166261499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:166261499C>T	uc003ire.3	+	4	788	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	MSMO1_uc010irb.3_Missense_Mutation_p.R220C|MSMO1_uc003irf.3_Missense_Mutation_p.R89C	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	220					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	GGTGACCATTCGTTTATTAGA	0.333000														48			34		0	0	0.004878	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167428	140167428	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:140167428G>A	uc003etn.3	+	5	1045	c.855G>A	c.(853-855)ctG>ctA	p.L285L	CLSTN2_uc003etm.2_Silent_p.L285L	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	285					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.L285Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCATCCACCTGGAGACGTGCG	0.527000										HNSCC(16;0.037)				67			50		0	0	0.003610	0	0
TRIM58	25893	broad.mit.edu	37	1	248039444	248039444	+	Missense_Mutation	SNP	G	A	A	rs143805378		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248039444G>A	uc001ido.3	+	5	1162	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	372	B30.2/SPRY.					intracellular	zinc ion binding	p.E372K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAAAGGGGGAAACCACGCC	0.562000														40			38		0	0	0.001287	0	0
ABCG5	64240	broad.mit.edu	37	2	44064986	44064986	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44064986G>A	uc002rtn.3	-	1	392	c.252C>T	c.(250-252)atC>atT	p.I84I	ABCG5_uc002rto.3_Silent_p.I3I|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	84	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTTCCTAGGATGCACATGA	0.483000														148			111		0	0	0.003610	0	0
ZNF574	64763	broad.mit.edu	37	19	42583793	42583793	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42583793C>T	uc002osk.4	+	1	1540	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ZNF574_uc002osm.4_Silent_p.F345F|ZNF574_uc021uva.1_Silent_p.F345F	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GTCGTGTCTTCCCTAGCCCTT	0.612000														39			28		0	0	0.001061	0	0
ICAM2	3384	broad.mit.edu	37	17	62081042	62081042	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:62081042A>T	uc002jdu.4	-	2	843	c.611T>A	c.(610-612)tTt>tAt	p.F204Y	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.F204Y|ICAM2_uc010ded.3_Missense_Mutation_p.F204Y|ICAM2_uc002jdx.4_Missense_Mutation_p.F204Y|ICAM2_uc002jdv.4_Missense_Mutation_p.F204Y	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	204					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GTGTTTGTGAAAGATGTTGCC	0.567000														7			29		0	0	0.002096	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363514	42363514	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42363514C>T	uc001zox.3	-	17	1777	c.1682_splice	c.e17-1	p.E561_splice		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	561	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGGGCTCCTTCTCTGAAGCCA	0.597000														11			8		0	0	0.000443	0	0
XKRX	402415	broad.mit.edu	37	X	100169665	100169665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:100169665C>T	uc004egn.2	-	2	1617	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	XKRX_uc011mre.1_Missense_Mutation_p.D134N	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	338						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCGACGAGATCTCTGTCTGCC	0.502000														16			81		0	0	0.003610	0	0
OR56A4	120793	broad.mit.edu	37	11	6024001	6024001	+	Silent	SNP	G	A	A	rs141110808		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6024001G>A	uc010qzv.2	-	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D125D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGAGCACGATGTCCAGCA	0.587000														26			24		0	0	0.004656	0	0
NOS1	4842	broad.mit.edu	37	12	117768576	117768576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117768576G>A	uc001twn.2	-	1	1010	c.299C>T	c.(298-300)cCt>cTt	p.P100L	NOS1_uc001twm.2_Missense_Mutation_p.P100L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	100	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)	GAAACCTTCAGGGCCCCTCAG	0.627000														18			11		0	0	0.001368	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760970	62760970	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62760970C>T	uc009yon.3	-	9	1576	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.G362G|SLC22A8_uc001nwo.3_Silent_p.G485G|SLC22A8_uc010rmm.2_Silent_p.G394G|SLC22A8_uc001nwp.2_Silent_p.G485G	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	485					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGCACTGCCCCCGAGGAGGG	0.597000														34			21		0	0	0.002780	0	0
MYO18B	84700	broad.mit.edu	37	22	26422841	26422841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26422841C>T	uc003abz.1	+	42	7151	c.6901C>T	c.(6901-6903)Ctc>Ttc	p.L2301F	MYO18B_uc003aca.1_Missense_Mutation_p.L2182F|MYO18B_uc010guy.1_Missense_Mutation_p.L2183F|MYO18B_uc010guz.1_Missense_Mutation_p.L2181F|MYO18B_uc011aka.1_Missense_Mutation_p.L1455F|MYO18B_uc011akb.1_Missense_Mutation_p.L1814F|MYO18B_uc010gva.1_Missense_Mutation_p.L284F|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2301						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGGGAAACCTCTCGCTGAG	0.612000														9			5		0	0	0.000602	0	0
TLL1	7092	broad.mit.edu	37	4	166964467	166964467	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:166964467C>T	uc003irh.2	+	11	2067	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	TLL1_uc011cjn.2_Nonsense_Mutation_p.Q474*|TLL1_uc011cjo.2_Nonsense_Mutation_p.Q298*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	474	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGATTCAGTCTCCCAA	0.413000														68			49		0	0	0.003610	0	0
GNA15	2769	broad.mit.edu	37	19	3155824	3155824	+	Silent	SNP	C	T	T	rs140382547		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3155824C>T	uc002lxf.2	+	4	876	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCTGTAGGATCGTGGACGTCG	0.557000														35			15		0	0	0.004007	0	0
CSTF2	1478	broad.mit.edu	37	X	100078283	100078283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:100078283C>T	uc004egh.3	+	3	368	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	CSTF2_uc010nnd.3_Missense_Mutation_p.L104F|CSTF2_uc004egi.3_Missense_Mutation_p.L104F|SNORA9_uc022caf.1_5'Flank	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	104					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TTGATTAGGCCTTGGCACTGG	0.463000														4			30		0	0	0.003271	0	0
TRPC4	7223	broad.mit.edu	37	13	38357417	38357417	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38357417G>A	uc010abx.3	-	1	289	c.54C>T	c.(52-54)atC>atT	p.I18I	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.I18I|TRPC4_uc001uws.3_Silent_p.I18I|TRPC4_uc010tey.2_Silent_p.I18I|TRPC4_uc010abw.3_Silent_p.I18I|TRPC4_uc010aby.3_Silent_p.I18I	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	18					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTTAGAGGGATGCGGTCTC	0.403000														100			58		0	0	0.003610	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746165	48746165	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48746165G>A	uc002xvf.3	-	3	557	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Silent_p.F132F|TMEM189-UBE2V1_uc010gif.2_Silent_p.F129F|TMEM189-UBE2V1_uc010zyp.1_Silent_p.F57F	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	132						endoplasmic reticulum membrane|integral to membrane		p.D131N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TGGTCTCGATGAAGTCGTGCC	0.597000														48			17		0	0	0.001216	0	0
USH1C	10083	broad.mit.edu	37	11	17552965	17552965	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17552965G>A	uc001mnf.3	-	2	338	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	USH1C_uc001mne.3_Silent_p.L77L|USH1C_uc009yhb.3_Silent_p.L77L|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.L41L	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	77					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						CGGGGGGTCAGCTGATCATAT	0.632000														8			9		0	0	0.004482	0	0
ABCC6	368	broad.mit.edu	37	16	16297332	16297332	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:16297332G>A	uc002den.4	-	7	970	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.F323F	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	311	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCCAGGAGGAAGGTAGAAT	0.592000														48			29		0	0	0.002096	0	0
ITIH5	80760	broad.mit.edu	37	10	7679434	7679434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:7679434C>T	uc021pmv.1	-	4	515	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	ITIH5_uc001ijr.2_Missense_Mutation_p.G137R	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	137	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATTTCAGTCCCCTTCTCTCTG	0.542000														35			13		0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152483671	152483671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152483671G>A	uc021vrb.1	-	64	9492	c.9463C>T	c.(9463-9465)Ccc>Tcc	p.P3155S	NEB_uc002txu.3_Missense_Mutation_p.P3398S|NEB_uc021vrc.1_Missense_Mutation_p.P3398S|NEB_uc010fnx.3_Missense_Mutation_p.P3143S|NEB_uc021vrd.1_Missense_Mutation_p.P3155S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3155					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.V3154F(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACCCAATGGGGACCCAGCCA	0.443000														19			22		0	0	0.002780	0	0
PEAR1	375033	broad.mit.edu	37	1	156880483	156880483	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156880483G>A	uc001fqj.1	+	14	2015	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S	PEAR1_uc001fqk.1_Silent_p.S258S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	633	EGF-like 8.					integral to membrane		p.S633W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACCCCTCGAACGGGACCT	0.617000														33			11		0	0	0.001368	0	0
FILIP1	27145	broad.mit.edu	37	6	76023924	76023924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76023924C>T	uc010kbe.3	-	5	2163	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	FILIP1_uc003phy.1_Missense_Mutation_p.D542N|FILIP1_uc003phz.3_Missense_Mutation_p.D443N|FILIP1_uc003pia.3_Missense_Mutation_p.D542N|FILIP1_uc003pib.1_Missense_Mutation_p.D294N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	542										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						TCAGTTACATCCATAACTTTT	0.289000														17			18		0	0	0.000743	0	0
FOXI1	2299	broad.mit.edu	37	5	169533036	169533036	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:169533036C>T	uc003mai.4	+	0	120	c.75C>T	c.(73-75)ccC>ccT	p.P25P	FOXI1_uc003maj.4_Silent_p.P25P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	25	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAGGAGCCCCCCGAGATGA	0.701000									Pendred syndrome					7			12		0	0	0.003163	0	0
C1orf127	148345	broad.mit.edu	37	1	11008779	11008779	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11008779C>T	uc010oao.2	-	11	1413	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	C1orf127_uc001ars.2_Silent_p.G306G|C1orf127_uc001arr.2_Silent_p.G314G	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	322										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCCAGGGATCCCTGCTTCCC	0.652000														53			22		0	0	0.002780	0	0
NCOA1	8648	broad.mit.edu	37	2	24930085	24930085	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:24930085C>T	uc002rfk.3	+	10	2005	c.1746C>T	c.(1744-1746)tcC>tcT	p.S582S	NCOA1_uc010eye.3_Silent_p.S582S|NCOA1_uc002rfi.3_Silent_p.S431S|NCOA1_uc002rfj.3_Silent_p.S582S|NCOA1_uc002rfl.3_Silent_p.S582S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	582	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGAGTCCAAAGATAACA	0.418000			T	PAX3	alveolar rhadomyosarcoma									34			23		0	0	0.001882	0	0
CABP2	51475	broad.mit.edu	37	11	67288549	67288549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:67288549G>A	uc001ome.1	-	3	432	c.344C>T	c.(343-345)aCc>aTc	p.T115I	CABP2_uc001omc.1_Missense_Mutation_p.T109I			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	109	EF-hand 2.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GTAGCCCAGGGTCCGCATGCA	0.632000														43			27		0	0	0.001271	0	0
EHD2	30846	broad.mit.edu	37	19	48220223	48220223	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:48220223G>A	uc002phj.4	+	1	604	c.354G>A	c.(352-354)ccG>ccA	p.P118P	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	118					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCGTGGACCCGGACAAGCCCT	0.622000														37			17		0	0	0.000958	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142166	3142166	+	Missense_Mutation	SNP	C	T	T	rs149971053		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3142166C>T	uc002ctv.1	-	1	471	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Intron|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R56Q	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	128	Pro-rich.				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						TGGCTGGGGTCGGGGAGGCTC	0.652000														16			11		0	0	0.001368	0	0
SNAP91	9892	broad.mit.edu	37	6	84417550	84417550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84417550C>T	uc021zcf.1	-	0	127	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SNAP91_uc003pka.3_Missense_Mutation_p.E33K|SNAP91_uc011dze.2_Missense_Mutation_p.E33K|SNAP91_uc003pkc.3_Missense_Mutation_p.E33K|SNAP91_uc003pkd.3_Missense_Mutation_p.E33K|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	33	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCCATTACTTCATGAGTAGTG	0.567000														46			36		0	0	0.002522	0	0
USP19	10869	broad.mit.edu	37	3	49150050	49150050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49150050G>A	uc003cwd.2	-	16	2528	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	USP19_uc003cwa.3_Missense_Mutation_p.R545C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R840C|USP19_uc011bcg.2_Missense_Mutation_p.R828C|USP19_uc003cwc.2_Missense_Mutation_p.R495C|USP19_uc011bch.2_Missense_Mutation_p.R838C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	737					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATGAAAACGATTCTTAATT	0.522000														25			9		0	0	0.000978	0	0
ZACN	353174	broad.mit.edu	37	17	74075563	74075563	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74075563G>A	uc002jqn.2	+	1	224	c.141G>A	c.(139-141)caG>caA	p.Q47Q	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	47					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGAAGGTTCAGGAAAGCATCC	0.527000														3			23		0	0	0.002780	0	0
ASXL3	80816	broad.mit.edu	37	18	31318971	31318971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31318971G>A	uc010dmg.1	+	10	1658	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	ASXL3_uc002kxq.2_Missense_Mutation_p.D242N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTTGTTATCGATCAGTTAGA	0.393000														10			8		0	0	0.003080	0	0
FGF5	2250	broad.mit.edu	37	4	81188066	81188066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:81188066G>A	uc003hmd.3	+	0	325	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	FGF5_uc003hme.3_Missense_Mutation_p.G30R	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	30					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGCCCCCAAAGGGCAACCCGG	0.622000														14			17		0	0	0.000958	0	0
HHLA2	11148	broad.mit.edu	37	3	108072296	108072296	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108072296C>T	uc003dwz.3	+	3	501	c.87C>T	c.(85-87)ttC>ttT	p.F29F	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Silent_p.F29F|HHLA2_uc003dwy.4_Silent_p.F29F	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	29						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGGCTTTCTTCATTTATGTTC	0.378000														6			6		0	0	0.001984	0	0
PTK2	5747	broad.mit.edu	37	8	141675085	141675085	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:141675085C>A	uc003yvu.3	-	30	3187	c.2877G>T	c.(2875-2877)ttG>ttT	p.L959F	PTK2_uc011ljp.2_Missense_Mutation_p.L267F|PTK2_uc003yvo.3_Missense_Mutation_p.L587F|PTK2_uc011ljq.2_Missense_Mutation_p.L657F|PTK2_uc003yvp.3_Missense_Mutation_p.L627F|PTK2_uc003yvq.3_Missense_Mutation_p.L464F|PTK2_uc003yvr.3_Missense_Mutation_p.L902F|PTK2_uc003yvs.3_Missense_Mutation_p.L913F|PTK2_uc011ljr.2_Missense_Mutation_p.L972F|PTK2_uc003yvt.3_Missense_Mutation_p.L981F|PTK2_uc003yvv.3_Missense_Mutation_p.L862F	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	959	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCTCAGGGCCAAGCCGACTT	0.453000														33			36		1.60099e-16	3.36777e-16	0.004878	1	0
MUC3A	4584	broad.mit.edu	37	7	100551903	100551904	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100551903_100551904GG>TT	uc003uxl.1	+	0	1154_1155	c.354_355GG>TT	c.(352-357)agggga>agTTga	p.118_119RG>S*	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						CTTTCACTAGGGGAAGTACGTC	0.431000														600			16		0	0	0.004672	0	0
MAGI3	260425	broad.mit.edu	37	1	114184754	114184754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:114184754C>T	uc001edk.3	+	9	1763	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	MAGI3_uc001edh.3_Missense_Mutation_p.P553S|MAGI3_uc001edi.4_Missense_Mutation_p.P528S|MAGI3_uc010owm.2_Missense_Mutation_p.P553S|MAGI3_uc001edj.3_Missense_Mutation_p.P249S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	553					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCATGAATCCTCAGGATTT	0.468000														72			83		0	0	0.003610	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795341	142795341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:142795341C>T	uc004fbz.3	-	1	1091	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	113								p.D112G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.532000														122			25		0	0	0.003610	0	0
ZNF646	9726	broad.mit.edu	37	16	31087769	31087769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:31087769G>A	uc002eap.3	+	1	413	c.124G>A	c.(124-126)Gac>Aac	p.D42N	ZNF668_uc010caf.3_5'Flank|ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.D42N	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGAGGAGGCTGACAGCATCCC	0.632000														37			32		0	0	0.004289	0	0
PZP	5858	broad.mit.edu	37	12	9322163	9322163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:9322163C>T	uc001qvl.3	-	15	1893	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	PZP_uc009zgl.3_Missense_Mutation_p.D491N|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGGTGAGATCCTTCACAGTT	0.413000														24			13		0	0	0.001855	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728408	50728408	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:50728408G>A	uc003bkv.4	-	2	699	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	202	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGTGGCGTGGTCCGTGTAGG	0.602000														20			15		0	0	0.004007	0	0
LRRC15	131578	broad.mit.edu	37	3	194080236	194080236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:194080236C>T	uc003ftt.3	-	2	1680	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	LRRC15_uc003ftu.3_Missense_Mutation_p.E513K|LRRC15_uc021xiy.1_Missense_Mutation_p.E513K	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	513						integral to membrane		p.E513I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTGTAGTCTTCCACAGGGCTG	0.557000														18			14		0	0	0.002450	0	0
SLC4A7	9497	broad.mit.edu	37	3	27460060	27460060	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:27460060A>T	uc011aww.2	-	10	1797	c.1576T>A	c.(1576-1578)Ttt>Att	p.F526I	SLC4A7_uc011awx.2_Missense_Mutation_p.F513I|SLC4A7_uc021wun.1_Missense_Mutation_p.F402I|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.F509I|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.F398I|SLC4A7_uc011axb.2_Missense_Mutation_p.F513I|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.F398I|SLC4A7_uc010hfl.3_Missense_Mutation_p.F67I|SLC4A7_uc003cdv.3_Missense_Mutation_p.F517I|SLC4A7_uc003cdw.3_Missense_Mutation_p.F393I	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	517						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGATCTAAAAATTCATCAATT	0.353000														18			7		0	0	0.001984	0	0
SLC39A10	57181	broad.mit.edu	37	2	196548522	196548522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196548522C>T	uc002utg.4	+	2	1322	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*	SLC39A10_uc002uth.4_Nonsense_Mutation_p.Q370*|SLC39A10_uc010zgp.2_5'UTR	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	370					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATTGTTATATCAAATCGACAG	0.353000														47			36		0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179399748	179399748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179399748G>A	uc021vsy.1	-	306	94115	c.93890C>T	c.(93889-93891)tCc>tTc	p.S31297F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S24992F|TTN_uc021vta.1_Missense_Mutation_p.S24925F|TTN_uc021vtb.1_Missense_Mutation_p.S24800F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32224	Fibronectin type-III 128.						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)			ATTCAGAATGGAAATTTCCTT	0.348000														68			32		0	0	0.002096	0	0
CHD6	84181	broad.mit.edu	37	20	40080653	40080653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:40080653C>T	uc002xka.1	-	21	3514	c.3336G>A	c.(3334-3336)tgG>tgA	p.W1112*		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1112					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.R1111L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATGTCCTTCCACCGGCCCC	0.547000														23			5		0	0	0.000602	0	0
TMEM144	55314	broad.mit.edu	37	4	159165493	159165493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:159165493G>A	uc003ipx.3	+	11	1466	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	316						integral to membrane		p.E316*(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CATGTTTAAGGAAATAAAGGT	0.413000														29			21		0	0	0.001786	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716504	142716504	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:142716504C>T	uc022cfm.1	-	0	2421	c.2421G>A	c.(2419-2421)agG>agA	p.R807R	SLITRK4_uc022cfl.1_Silent_p.R807R|SLITRK4_uc004fbx.3_Silent_p.R807R|SLITRK4_uc004fby.3_Silent_p.R807R	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	807						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTCTTCCTTTGTTCCA	0.428000														3			40		0	0	0.005524	0	0
MXRA5	25878	broad.mit.edu	37	X	3239094	3239094	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3239094C>T	uc004crg.4	-	4	4789	c.4632G>A	c.(4630-4632)gtG>gtA	p.V1544V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1544						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)				CTTCATTGTTCACTGGGGTTG	0.418000														5			69		0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567248	45567248	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:45567248G>A	uc010dnv.3	-	2	733	c.297C>T	c.(295-297)atC>atT	p.I99I	ZBTB7C_uc002ldb.3_Silent_p.I77I|ZBTB7C_uc010dnu.3_Silent_p.I86I|ZBTB7C_uc010dnw.3_Silent_p.I77I|ZBTB7C_uc010dnx.1_Silent_p.I77I|ZBTB7C_uc010dny.1_Silent_p.I77I|ZBTB7C_uc010dnz.1_Silent_p.I99I|ZBTB7C_uc010doi.1_Silent_p.I77I|ZBTB7C_uc010doj.1_Silent_p.I86I|ZBTB7C_uc010dok.1_Silent_p.I126I|ZBTB7C_uc010dol.1_Silent_p.I86I|ZBTB7C_uc010doa.1_Silent_p.I99I|ZBTB7C_uc010dob.1_Silent_p.I77I|ZBTB7C_uc010doc.1_Silent_p.I86I|ZBTB7C_uc010dod.1_Silent_p.I99I|ZBTB7C_uc010doe.1_Silent_p.I77I|ZBTB7C_uc010dof.1_Silent_p.I77I|ZBTB7C_uc010dog.1_Silent_p.I77I|ZBTB7C_uc010doh.1_Silent_p.I86I|ZBTB7C_uc010dom.1_Silent_p.I86I|ZBTB7C_uc010don.1_Silent_p.I85I|ZBTB7C_uc010dop.1_Silent_p.I77I|ZBTB7C_uc010doq.1_Silent_p.I86I|ZBTB7C_uc010dor.1_Silent_p.I99I|ZBTB7C_uc010dos.1_Silent_p.I77I|ZBTB7C_uc010dot.1_Silent_p.I77I|ZBTB7C_uc010doo.1_Silent_p.I77I|ZBTB7C_uc010dou.1_Silent_p.I86I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	77	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGACAAAGTCGATCTCATAGA	0.582000														22			14		0	0	0.004007	0	0
SP140L	93349	broad.mit.edu	37	2	231256802	231256802	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:231256802G>A	uc010fxm.1	+	12	1056	c.965_splice	c.e12-1	p.G322_splice	SP140L_uc010fxo.1_Splice_Site_p.G94_splice	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	322	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGTCTTACAGGAACCTTGGCA	0.488000														28			20		0	0	0.001523	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436741	72436741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72436741G>A	uc002jkp.3	+	1	1472	c.961G>A	c.(961-963)Gat>Aat	p.D321N	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.D288N|GPRC5C_uc002jkt.3_Missense_Mutation_p.D276N|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	276						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCCCACCTGGGATGACCCCAC	0.602000														7			30		0	0	0.003755	0	0
SUGP2	10147	broad.mit.edu	37	19	19135628	19135628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19135628G>A	uc002nkz.1	-	2	1591	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	SUGP2_uc002nkx.2_Missense_Mutation_p.S510L|SUGP2_uc002nla.1_Missense_Mutation_p.S510L|SUGP2_uc002nlb.2_Missense_Mutation_p.S510L|SUGP2_uc010xqk.1_Missense_Mutation_p.S279L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	510					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCAGCAGGTGAGGGAGCTAT	0.527000														76			33		0	0	0.003755	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059814	60059814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60059814G>A	uc001noz.3	+	1	293	c.158G>A	c.(157-159)gGa>gAa	p.G53E	MS4A4A_uc001npa.3_Missense_Mutation_p.G34E|MS4A4A_uc001npc.3_Missense_Mutation_p.G53E	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	53						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CTGTGGAAAGGATTGCAAGAG	0.488000														29			25		0	0	0.003954	0	0
RALGAPB	57148	broad.mit.edu	37	20	37187061	37187061	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:37187061T>A	uc002xiw.3	+	22	3753	c.3496T>A	c.(3496-3498)Ttc>Atc	p.F1166I	RALGAPB_uc002xix.3_Missense_Mutation_p.F1162I|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.F944I	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1166	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTTTTTATTTTCTATATGAA	0.353000														192			58		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141731538	141731539	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141731538_141731539GG>AA	uc003vwy.3	+	12	1583_1584	c.1529_1530GG>AA	c.(1528-1530)tgg>tAA	p.W510*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	510	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)	GCTGTTTGGTGGACAAAGGAAT	0.366000														66			56		0	0	0.004672	0	0
RHAG	6005	broad.mit.edu	37	6	49582516	49582516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:49582516C>T	uc003ozk.4	-	4	753	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	RHAG_uc010jzl.3_Missense_Mutation_p.E231K|RHAG_uc010jzm.3_Missense_Mutation_p.E231K	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	231					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCCAGGTTCAGCAATGGCC	0.502000														38			25		0	0	0.001786	0	0
FGF7	2252	broad.mit.edu	37	15	49775424	49775424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:49775424G>A	uc001zxn.3	+	2	892	c.363G>A	c.(361-363)atG>atA	p.M121I	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	121					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ATCTTGCAATGAACAAGGAAG	0.353000														30			17		0	0	0.001216	0	0
CNR2	1269	broad.mit.edu	37	1	24201874	24201874	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24201874C>T	uc021oij.1	-	0	234	c.234G>A	c.(232-234)ggG>ggA	p.G78G	CNR2_uc001bif.3_Silent_p.G78G	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	78					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGAAGTCAGCCCCAGCCAAGC	0.537000														34			29		0	0	0.001786	0	0
PTPN9	5780	broad.mit.edu	37	15	75816585	75816585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75816585G>A	uc002bal.3	-	2	770	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	88	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTCAGAACGAAGAGGTTCC	0.388000														49			34		0	0	0.002522	0	0
OR52N4	390072	broad.mit.edu	37	11	5776234	5776234	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5776234G>A	uc001mbu.3	+	0	312	c.264G>A	c.(262-264)tgG>tgA	p.W88*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GCATCTTCTGGTTTCATCTCA	0.473000														43			37		0	0	0.004878	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292607	4292607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4292607C>T	uc002lzx.2	-	4	884	c.838G>A	c.(838-840)Gga>Aga	p.G280R	TMIGD2_uc021umz.1_Nonsense_Mutation_p.W163*|TMIGD2_uc021una.1_Nonsense_Mutation_p.W111*|TMIGD2_uc010dtv.2_Missense_Mutation_p.G276R	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	280						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCCTCTCCCACTTTGGGG	0.627000														66			66		0	0	0.003610	0	0
MAP9	79884	broad.mit.edu	37	4	156294331	156294331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:156294331C>T	uc003ios.3	-	3	702	c.438G>A	c.(436-438)atG>atA	p.M146I	MAP9_uc011cin.2_Missense_Mutation_p.M146I|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.M146I|MAP9_uc010iqb.2_Missense_Mutation_p.M74I	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	146			M -> V (in dbSNP:rs34082815).		cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTTAGGTTTCATTTTTATTT	0.303000														32			21		0	0	0.001882	0	0
ABCC9	10060	broad.mit.edu	37	12	21965021	21965021	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21965021G>A	uc001rfh.3	-	33	4193	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	ABCC9_uc001rfi.1_Silent_p.I1391I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1391	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTGCAGAATGATTGAAAGTC	0.383000														58			37		0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179598116	179598116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179598116C>T	uc021vsy.1	-	50	12397	c.12172G>A	c.(12172-12174)Gtc>Atc	p.V4058I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V719I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4985							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4057I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTGGCGACCAAGGGTCTC	0.473000														55			38		0	0	0.004878	0	0
DBX2	440097	broad.mit.edu	37	12	45410113	45410113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:45410113C>T	uc001rok.1	-	3	1148	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E326*(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GCTTCTTCTTCAGAACATAAA	0.448000														37			22		0	0	0.002299	0	0
MAP4	4134	broad.mit.edu	37	3	47908795	47908795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:47908795G>A	uc003csb.2	-	14	3533	c.3007C>T	c.(3007-3009)Cat>Tat	p.H1003Y	MAP4_uc003csc.3_Missense_Mutation_p.H1003Y|MAP4_uc003crw.2_Missense_Mutation_p.H82Y|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Missense_Mutation_p.H716Y|MAP4_uc003csa.3_Intron|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Missense_Mutation_p.H723Y	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	1003					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GACTGAATATGGCTGTAGCTC	0.438000														65			29		0	0	0.004878	0	0
MYH15	22989	broad.mit.edu	37	3	108219037	108219037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108219037C>T	uc003dxa.1	-	4	541	c.484G>A	c.(484-486)Ggg>Agg	p.G162R		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	162	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						CGCCTCTTCCCTTTGTAGGCG	0.473000														20			18		0	0	0.000958	0	0
DCHS2	54798	broad.mit.edu	37	4	155157596	155157596	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:155157596G>A	uc003inw.2	-	24	6843	c.6843C>T	c.(6841-6843)ttC>ttT	p.F2281F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2281	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)		CAGTTAAGGTGAATTTTGTCA	0.353000														35			21		0	0	0.001523	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457497	21457497	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21457497C>T	uc001rer.3	-	4	704	c.453G>A	c.(451-453)aaG>aaA	p.K151K	SLCO1A2_uc010siq.2_Silent_p.K19K|SLCO1A2_uc001res.3_Silent_p.K151K|SLCO1A2_uc010sio.2_Silent_p.K19K|SLCO1A2_uc010sip.2_Silent_p.K19K|SLCO1A2_uc001ret.3_Silent_p.K149K|SLCO1A2_uc001reu.2_Silent_p.K131K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	151					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.T150A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATTTAACTTCCTTTGTACACT	0.358000														55			21		0	0	0.002299	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556063	45556063	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:45556063C>T	uc010dnv.3	-	3	1930	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	ZBTB7C_uc002ldb.3_Silent_p.R476R|ZBTB7C_uc010dnu.3_Silent_p.R485R|ZBTB7C_uc010dnw.3_Silent_p.R476R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	476						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CGCGTCGGGGCCGTGCCATGC	0.726000														4			4		0	0	0.000248	0	0
ITPKB	3707	broad.mit.edu	37	1	226924433	226924433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:226924433G>A	uc010pvo.2	-	1	1067	c.727C>T	c.(727-729)Cct>Tct	p.P243S	ITPKB_uc001hqh.3_Missense_Mutation_p.P243S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	243							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GATCCTGTAGGGGCAGCCCGG	0.592000														52			52		0	0	0.003610	0	0
ACOX3	8310	broad.mit.edu	37	4	8390952	8390952	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:8390952G>A	uc010idk.3	-	12	1630	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	ACOX3_uc003glc.4_Silent_p.I495I|ACOX3_uc003gld.4_Silent_p.I495I	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	495					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.G494D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCTGGTCAAGGATGCCGGGAT	0.547000														14			15		0	0	0.000958	0	0
LRRC32	2615	broad.mit.edu	37	11	76371022	76371022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:76371022C>T	uc001oxq.4	-	2	1858	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	LRRC32_uc001oxr.4_Missense_Mutation_p.E539K|LRRC32_uc010rsf.2_Missense_Mutation_p.E525K	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	539						integral to plasma membrane		p.E539Q(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCCAGCACCTCCAGTGACACA	0.642000														21			13		0	0	0.001368	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111965972	111965972	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:111965972C>T	uc004bdz.1	-	18	2212	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	639						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTGGATTTCTTATTGATAT	0.373000														11			57		0	0	0.003610	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603833	140603833	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140603833C>T	uc003ljb.3	+	0	756	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAGTCCCCGAGGACAGAC	0.488000														10			17		0	0	0.004007	0	0
PTCD2	79810	broad.mit.edu	37	5	71634538	71634538	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:71634538C>T	uc003kcb.3	+	6	739	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.3_Silent_p.F91F|PTCD2_uc011csg.2_Silent_p.F71F|PTCD2_uc011csh.2_Silent_p.F134F|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	243										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423000														6			15		0	0	0.004007	0	0
VARS2	57176	broad.mit.edu	37	6	30892177	30892178	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30892177_30892178CC>TT	uc011dmz.2	+	25	2684_2685	c.2603_2604CC>TT	c.(2602-2604)ccc>cTT	p.P868L	VARS2_uc003nsc.2_Missense_Mutation_p.P838L|VARS2_uc011dmx.2_Missense_Mutation_p.P838L|VARS2_uc011dmy.2_Missense_Mutation_p.P698L|VARS2_uc011dna.2_Missense_Mutation_p.P836L|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P276L|VARS2_uc010jsg.2_Missense_Mutation_p.P210L|VARS2_uc010jsh.2_5'UTR	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	838					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCCTGGGGCCCCCTCAGGTCC	0.698000														17			12		0	0	0.004672	0	0
DDX60L	91351	broad.mit.edu	37	4	169344861	169344861	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:169344861C>T	uc021xuh.1	-	13	2105	c.1995G>A	c.(1993-1995)gaG>gaA	p.E665E	DDX60L_uc003irq.4_Silent_p.E665E|DDX60L_uc003irr.1_Silent_p.E665E|DDX60L_uc003irs.1_Silent_p.E392E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	665							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGGGTATCTCTCCAGGAGTG	0.313000														29			13		0	0	0.004990	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891962	5891962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:5891962C>T	uc002kmx.1	-	0	142	c.101G>A	c.(100-102)aGg>aAg	p.R34K		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	34						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GTTCTTGCGCCTCTTCTTGGC	0.602000														29			11		0	0	0.000978	0	0
FCGR1B	2210	broad.mit.edu	37	1	120930274	120930274	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120930274G>A	uc001eip.3	-	3	377	c.327C>T	c.(325-327)gtC>gtT	p.V109V	FCGR1B_uc010oxl.2_Non-coding_Transcript|FCGR1B_uc001eiq.3_Silent_p.V17V|FCGR1B_uc009whr.2_Silent_p.V109V|FCGR1B_uc009whs.2_Silent_p.V110V	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ib, receptor (CD64) (FCGR1B), transcript variant 1, mRNA.	109	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCTGCTGGAGACCTGCAGTA	0.488000														72			60		0	0	0.003610	0	0
TCRB	0	broad.mit.edu	37	7	142099750	142099750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142099750G>A	uc003vyz.1	-	1	52	c.52C>T	c.(52-54)Cac>Tac	p.H18Y	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.H18Y					SubName: Full=Uncharacterized protein;																		GCACCTGTGTGATCTGTGGAA	0.453000														18			23		0	0	0.003330	0	0
LCT	3938	broad.mit.edu	37	2	136566152	136566152	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:136566152C>T	uc002tuu.1	-	7	3776	c.3765G>A	c.(3763-3765)agG>agA	p.R1255R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1255	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)		AGTTCAGCAGCCTTCGCGTCC	0.572000														50			25		0	0	0.005443	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163829	150163829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150163829C>T	uc003whj.3	+	1	373	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	15	Poly-Leu.					Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCGGCTCCTCCTCCTGGGAAA	0.493000														63			16		0	0	0.003163	0	0
MEX3A	92312	broad.mit.edu	37	1	156047386	156047386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156047386C>T	uc001fnd.4	-	1	542	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	181	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCCCGTCGCCCTGTCACCAT	0.612000														8			19		0	0	0.000743	0	0
OR5L1	219437	broad.mit.edu	37	11	55578952	55578952	+	Missense_Mutation	SNP	G	A	A	rs149863919		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55578952G>A	uc001nhw.1	+	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E4K(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CATGGGCAAGGAAAACTGCAC	0.393000														73			50		0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152323669	152323669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152323669C>T	uc001ezw.4	-	2	6666	c.6593G>A	c.(6592-6594)gGa>gAa	p.G2198E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2198							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAGTGTGTCCTGAATGTGT	0.517000														89			91		0	0	0.003610	0	0
SNRPB	6628	broad.mit.edu	37	20	2443766	2443766	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2443766G>A	uc002wfz.1	-	4	691	c.528C>T	c.(526-528)ccC>ccT	p.P176P	SNRPB_uc002wga.1_Silent_p.P176P|SNRPB_uc010zpv.2_Silent_p.P97P|SNRPB_uc002wgb.3_Silent_p.P176P|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	176	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.P176L(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCATAGGTGGGGGAGGACCCC	0.587000														72			6		0	0	0.001984	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740838	110740838	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110740838C>T	uc009wfq.3	+	11	2417	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	652					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACACCCTCTCCGTGTCCTACA	0.592000														7			9		0	0	0.000443	0	0
DNMBP	23268	broad.mit.edu	37	10	101640031	101640031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:101640031G>A	uc001kqj.2	-	15	4177	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	DNMBP_uc010qpl.1_Missense_Mutation_p.S298F|DNMBP_uc001kqg.2_Missense_Mutation_p.S650F|DNMBP_uc001kqh.2_Missense_Mutation_p.S994F	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1362	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGACTCTGTGGAGGAGTGGCT	0.587000														20			19		0	0	0.000743	0	0
SRCAP	10847	broad.mit.edu	37	16	30740727	30740728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30740727_30740728CC>TT	uc002dze.1	+	26	6346_6347	c.5961_5962CC>TT	c.(5959-5964)ccccct>ccTTct	p.P1988S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1783S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1988					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCTCCCCCTTCCCTGCA	0.584000														19			7		0	0	0.004672	0	0
ABHD16A	7920	broad.mit.edu	37	6	31657875	31657875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31657875G>A	uc003nvy.2	-	10	1016	c.937C>T	c.(937-939)Cca>Tca	p.P313S	ABHD16A_uc003nvx.2_Missense_Mutation_p.P94S|ABHD16A_uc011dny.2_Missense_Mutation_p.P280S|ABHD16A_uc010jtc.2_Missense_Mutation_p.P94S|ABHD16A_uc011dnz.2_Missense_Mutation_p.P94S	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	313						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GCAAAGCCTGGATGATTCCAG	0.552000														124			86		0	0	0.003610	0	0
GAS2L3	283431	broad.mit.edu	37	12	101012316	101012316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101012316C>T	uc001thu.3	+	7	825	c.599C>T	c.(598-600)tCc>tTc	p.S200F	GAS2L3_uc009zty.3_Missense_Mutation_p.S200F|GAS2L3_uc001thv.3_Missense_Mutation_p.S96F	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	200					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTGAAGATTCCATCAGCATT	0.408000														41			31		0	0	0.002096	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730113	140730113	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140730113A>T	uc003ljo.2	+	0	286	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Nonsense_Mutation_p.K96*	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	99	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCGGAAGGAAACTTGAGTG	0.428000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			23		0	0	0.003954	0	0
OBSCN	84033	broad.mit.edu	37	1	228482023	228482023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:228482023G>A	uc009xez.1	+	41	11346	c.11302G>A	c.(11302-11304)Gag>Aag	p.E3768K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3768K|OBSCN_uc001hsq.1_Missense_Mutation_p.E1024K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3768	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCAGGTGTGAGCTGCAGAT	0.632000														65			31		0	0	0.003271	0	0
FSIP2	401024	broad.mit.edu	37	2	186672120	186672120	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:186672120C>T	uc002upl.3	+	16	18354	c.18354C>T	c.(18352-18354)tcC>tcT	p.S6118S	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAACAATATCCAGCACAAAAA	0.333000														68			36		0	0	0.003271	0	0
FAM47C	442444	broad.mit.edu	37	X	37028481	37028481	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:37028481C>T	uc004ddl.2	+	0	2050	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	666										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCAGTCTCCCCCCGGAGC	0.637000														7			9		0	0	0.002450	0	0
SMPD3	55512	broad.mit.edu	37	16	68405554	68405554	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68405554G>A	uc002ewa.3	-	2	953	c.531C>T	c.(529-531)acC>acT	p.T177T	SMPD3_uc010cfe.3_Silent_p.T177T|SMPD3_uc010vlh.2_Silent_p.T177T	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	177					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGCTGATGGAGGTATTGGTGG	0.627000														22			6		0	0	0.001984	0	0
TUBB7P	56604	broad.mit.edu	37	4	190905468	190905468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:190905468C>T	uc011clg.2	-	2	221	c.3G>A	c.(1-3)atG>atA	p.M1I				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	73					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										GCACAGAGTCCATGGTGCCCG	0.692000														26			21		0	0	0.001061	0	0
GCDH	2639	broad.mit.edu	37	19	13002951	13002951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13002951C>T	uc002mvq.3	+	4	370	c.293C>T	c.(292-294)tCg>tTg	p.S98L	GCDH_uc010xms.2_Intron|GCDH_uc002mvp.3_Missense_Mutation_p.S98L|GCDH_uc010xmt.2_5'UTR|GCDH_uc010xmu.2_Intron	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAGATCATTTCGGAGATGGGG	0.562000														24			14		0	0	0.003163	0	0
TARS	6897	broad.mit.edu	37	5	33461116	33461117	+	Missense_Mutation	DNP	CG	AT	AT	rs148364973		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:33461116_33461117CG>AT	uc003jhy.3	+	11	1655_1656	c.1360_1361CG>AT	c.(1360-1362)cgg>ATg	p.R454M	TARS_uc010iup.1_Missense_Mutation_p.R395M|TARS_uc011coc.2_Missense_Mutation_p.R475M|TARS_uc003jhz.3_Missense_Mutation_p.R350M|TARS_uc011cod.2_Missense_Mutation_p.R333M	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	454					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R454R(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AGGACTCACCCGGGTACGAAGA	0.495000														64			7		0	0	0.004672	0	0
ATP8B3	148229	broad.mit.edu	37	19	1784832	1784832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1784832C>T	uc002ltw.3	-	27	3880	c.3646G>A	c.(3646-3648)Gag>Aag	p.E1216K	ATP8B3_uc002ltv.3_Missense_Mutation_p.E1179K|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1216					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCACGTAGCTCCTTGAGGGCT	0.622000														8			4		0	0	0.000248	0	0
HP	3240	broad.mit.edu	37	16	72094655	72094655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72094655G>A	uc002fbr.4	+	6	1131	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Missense_Mutation_p.D304N|HP_uc021tld.1_Missense_Mutation_p.D304N|HP_uc002fbt.4_Missense_Mutation_p.D304N|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	363	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGCCGTTCACGACCTGGAGGA	0.522000														60			38		0	0	0.002852	0	0
ATR	545	broad.mit.edu	37	3	142280213	142280213	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142280213G>A	uc003eux.4	-	4	1343	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	407					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCCTCAATGATTTCCATAC	0.363000								Other conserved DNA damage response genes						28			21		0	0	0.001523	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731934	227731934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227731934C>T	uc021vxo.1	+	4	990	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	RHBDD1_uc002voi.3_Missense_Mutation_p.H156Y|RHBDD1_uc010fxc.3_Missense_Mutation_p.H156Y	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	156						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TCTTAACAACCATTATTGCCC	0.373000														64			30		0	0	0.001271	0	0
PTPN22	26191	broad.mit.edu	37	1	114380911	114380911	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:114380911G>T	uc001eds.3	-	12	1241	c.1111C>A	c.(1111-1113)Cct>Act	p.P371T	PTPN22_uc021orx.1_Missense_Mutation_p.P371T|PTPN22_uc009wgq.3_Missense_Mutation_p.P316T|PTPN22_uc021ory.1_Missense_Mutation_p.P347T|PTPN22_uc010owo.2_Missense_Mutation_p.P127T|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P371T|PTPN22_uc009wgs.2_Missense_Mutation_p.P244T|PTPN22_uc001edu.2_Missense_Mutation_p.P371T	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	371					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTTAGCAGGGTGCAAAACT	0.358000														33			43		7.63091e-17	1.60586e-16	0.001706	1	0
CXorf66	347487	broad.mit.edu	37	X	139038684	139038684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:139038684C>T	uc004fbb.3	-	2	479	c.457G>A	c.(457-459)Gga>Aga	p.G153R		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	153	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTTAACTTTCCTGCACTGTTT	0.413000														37			103		0	0	0.003610	0	0
ZNF438	220929	broad.mit.edu	37	10	31134408	31134408	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31134408G>A	uc010qdz.2	-	7	2404	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.Q608*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.Q647*|ZNF438_uc001ivo.4_Nonsense_Mutation_p.Q221*|ZNF438_uc009xlg.3_Nonsense_Mutation_p.Q657*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.Q647*|ZNF438_uc010qea.2_Nonsense_Mutation_p.Q657*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.Q657*	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCAAAAGACTGAGCAGTAATC	0.428000														37			27		0	0	0.001271	0	0
DSCAM	1826	broad.mit.edu	37	21	41452109	41452109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41452109C>T	uc002yyq.1	-	24	4842	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	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.	1464	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)				TCTATGATTTCACTTATGCGC	0.458000														51			44		0	0	0.003610	0	0
SPRED1	161742	broad.mit.edu	37	15	38643766	38643766	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:38643766C>T	uc001zka.4	+	6	1571	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	412	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTTTGTCTTTCATTGTACCAT	0.488000									Legius syndrome					68			52		0	0	0.003610	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18795486	18795486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:18795486G>A	uc003zne.4	+	19	3921	c.3769G>A	c.(3769-3771)Gga>Aga	p.G1257R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1257	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAATGCCTTGGGATACGACTC	0.453000														7			7		0	0	0.001984	0	0
ACAD10	80724	broad.mit.edu	37	12	112187039	112187039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:112187039C>T	uc009zvx.3	+	18	3000	c.2800C>T	c.(2800-2802)Cct>Tct	p.P934S	ACAD10_uc001tsq.3_Missense_Mutation_p.P903S|ACAD10_uc001tss.1_Intron	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	903							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTCCTGGGCCCTGGCCGAGG	0.587000														53			47		0	0	0.002852	0	0
ZNF679	168417	broad.mit.edu	37	7	63726689	63726689	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:63726689C>T	uc003tsx.3	+	4	947	c.678C>T	c.(676-678)acC>acT	p.T226T		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCTCTTCAACCCTTTCTAAAC	0.398000														4			5		0	0	0.000602	0	0
FAM154B	283726	broad.mit.edu	37	15	82564131	82564131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:82564131C>T	uc002bgv.3	+	1	310	c.241C>T	c.(241-243)Cca>Tca	p.P81S	FAM154B_uc010unr.2_Missense_Mutation_p.P66S|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	81										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GGACACTGTCCCAACCTATAA	0.373000														19			15		0	0	0.004990	0	0
CSF1	1435	broad.mit.edu	37	1	110466437	110466438	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110466437_110466438GG>AA	uc001dyu.2	+	5	1607_1608	c.1194_1195GG>AA	c.(1192-1197)ccggag>ccAAag	p.E399K	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.E399K|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	399					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.P398P(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACCCCCCGGAGCCAGGCTC	0.668000														16			11		0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139160922	139160922	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139160922G>A	uc003yuy.3	-	13	3460	c.3289C>T	c.(3289-3291)Cag>Tag	p.Q1097*	FAM135B_uc003yux.3_Nonsense_Mutation_p.Q998*|FAM135B_uc003yuz.3_Intron|FAM135B_uc003yva.3_Nonsense_Mutation_p.Q659*|FAM135B_uc003yvb.3_Intron	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1097										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)			TCTTTGGCCTGATAAAAACTG	0.393000										HNSCC(54;0.14)				15			19		0	0	0.001216	0	0
PROKR2	128674	broad.mit.edu	37	20	5283203	5283203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:5283203G>A	uc010zqw.2	-	1	646	c.638C>T	c.(637-639)cCt>cTt	p.P213L	PROKR2_uc010zqx.2_Missense_Mutation_p.P213L|PROKR2_uc010zqy.2_Missense_Mutation_p.P213L	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	213						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.P213H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGATCCACAGGCCAGATCTG	0.512000										HNSCC(71;0.22)				60			9		0	0	0.000673	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933831	22933831	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:22933831G>A	uc001yus.3	+	7	854	c.750G>A	c.(748-750)gaG>gaA	p.E250E	CYFIP1_uc001yut.3_Silent_p.E250E|CYFIP1_uc010aya.1_Silent_p.E278E	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	250					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATTACTACGAGAACAGGATGT	0.512000														61			30		0	0	0.002445	0	0
AKAP8	10270	broad.mit.edu	37	19	15483978	15483978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15483978G>A	uc002nav.3	-	4	615	c.545C>T	c.(544-546)tCc>tTc	p.S182F	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	182					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCATCAAGGGAGCCCCGCTC	0.677000														13			14		0	0	0.003163	0	0
TOX2	84969	broad.mit.edu	37	20	42635366	42635366	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42635366C>T	uc010ggo.3	+	2	385	c.345C>T	c.(343-345)ctC>ctT	p.L115L	TOX2_uc002xle.4_Silent_p.L73L|TOX2_uc010ggp.3_Silent_p.L73L|TOX2_uc002xlf.4_Silent_p.L124L|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGGACCTCCCAGCCATCA	0.637000														12			20		0	0	0.001216	0	0
OR4K1	79544	broad.mit.edu	37	14	20403841	20403841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20403841G>A	uc001vwj.2	+	0	75	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACACAAATGAATCGATGGT	0.343000														128			79		0	0	0.003610	0	0
ATN1	1822	broad.mit.edu	37	12	7047681	7047681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7047681C>T	uc001qrw.1	+	6	2792	c.2555C>T	c.(2554-2556)cCa>cTa	p.P852L	ATN1_uc001qrx.1_Missense_Mutation_p.P852L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	852					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.P852Q(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGGAATGCCCATCTCTGGGC	0.592000											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			14		0	0	0.003163	0	0
SPATA19	219938	broad.mit.edu	37	11	133714482	133714483	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:133714482_133714483AG>GA	uc001qgv.1	-	2	239_240	c.188_189CT>TC	c.(187-189)cct>cTC	p.P63L		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	63					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CACCCTGGGAAGGGTGGTTGAT	0.510000														39			17		0	0	0.004672	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158813902C>T	uc001fsz.1	+	3	760	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	187					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)					TCCAACACTTCGTTTACTCCG	0.493000														74			36		0	0	0.001485	0	0
NPHS1	4868	broad.mit.edu	37	19	36339218	36339218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36339218C>T	uc002oby.3	-	9	1408	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	418	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			CTGAAGGCCTCACATGTGAGG	0.592000														28			35		0	0	0.003755	0	0
MECOM	2122	broad.mit.edu	37	3	168802789	168802789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168802789G>A	uc011bpj.1	-	16	4031	c.3628C>T	c.(3628-3630)Cat>Tat	p.H1210Y	MECOM_uc010hwk.1_3'UTR|MECOM_uc003ffj.3_Missense_Mutation_p.H1087Y|MECOM_uc003ffi.3_Missense_Mutation_p.H1022Y|MECOM_uc011bpi.1_Missense_Mutation_p.H1014Y|MECOM_uc003ffn.3_Missense_Mutation_p.H1022Y|MECOM_uc003ffk.2_Missense_Mutation_p.H1013Y|MECOM_uc003ffl.2_Missense_Mutation_p.H1173Y|MECOM_uc011bpk.1_Missense_Mutation_p.H1022Y	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			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						GATGTAGAATGGAGGGACTCC	0.473000														26			19		0	0	0.002299	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812838	45812838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45812838G>A	uc011bai.2	-	5	930	c.806C>T	c.(805-807)tCc>tTc	p.S269F	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.S232F	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	269					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCAGTTGTTGGATGGCTCATT	0.552000														51			42		0	0	0.003610	0	0
CYP3A43	64816	broad.mit.edu	37	7	99457577	99457577	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99457577A>T	uc003ury.1	+	9	1093	c.990A>T	c.(988-990)aaA>aaT	p.K330N	CYP3A43_uc003urx.1_Missense_Mutation_p.K330N|CYP3A43_uc003urz.1_Missense_Mutation_p.K330N|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.K220N|CYP3A43_uc003usb.1_Missense_Mutation_p.K190N	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	330			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TCCAGCAGAAACTGCAGGAGG	0.493000														73			20		0	0	0.001523	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904846	73904846	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73904846C>T	uc011dyh.2	+	14	2912	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	KCNQ5_uc011dyi.2_Silent_p.I846I|KCNQ5_uc010kat.3_Silent_p.I827I|KCNQ5_uc003pgk.3_Silent_p.I836I|KCNQ5_uc011dyj.2_Silent_p.I726I|KCNQ5_uc011dyk.2_Silent_p.I586I	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	836					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S854_S857delSRGS(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAACCTGATCAGGTCGACCG	0.473000														29			15		0	0	0.000743	0	0
SYPL2	284612	broad.mit.edu	37	1	110018278	110018278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110018278G>A	uc001dxp.3	+	2	571	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	SYPL2_uc001dxo.2_Missense_Mutation_p.E69K|SYPL2_uc010ovk.2_Missense_Mutation_p.E69K|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	69	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGCAACAACGAAGCCAAGGA	0.522000														263			134		0	0	0.003610	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543662	141543662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141543662G>A	uc010ioj.3	-	20	3760	c.3488C>T	c.(3487-3489)tCc>tTc	p.S1163F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1163						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGAGTATGAGGACATGGAGCT	0.642000														37			22		0	0	0.002299	0	0
LRP2	4036	broad.mit.edu	37	2	170101310	170101310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:170101310G>A	uc002ues.3	-	21	3536	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	LRP2_uc010zdf.1_Missense_Mutation_p.S971F	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1108	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAAGGCAGGAAGCAGGTGC	0.527000														70			44		0	0	0.003214	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999892	108999892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108999892G>A	uc002tea.1	+	4	914	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.E106K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CTCCTGGCATGAACATGTGAA	0.468000														23			18		0	0	0.001216	0	0
NLRP11	204801	broad.mit.edu	37	19	56312989	56312989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56312989G>A	uc010ygf.2	-	6	2831	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	NLRP11_uc002qlz.3_Missense_Mutation_p.S554L|NLRP11_uc002qmb.3_Missense_Mutation_p.S608L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	707							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGCAGAAGTGAAAACATATT	0.473000														44			46		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107131212	107131212	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:107131212G>A	uc021ser.1	-	78		c.3666C>T								Parts of antibodies, mostly variable regions.																		GGAGCCTGGCGGACCCAGCTC	0.587000														17			53		0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21141544	21141544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:21141544C>T	uc001iqi.3	-	9	1335	c.938G>A	c.(937-939)gGa>gAa	p.G313E	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.	313					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						ATGATACATTCCTTTGTTTTC	0.398000														22			10		0	0	0.000443	0	0
NBPF7	343505	broad.mit.edu	37	1	120379953	120379953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120379953C>T	uc010oxk.2	-	5	1489	c.868G>A	c.(868-870)Ggg>Agg	p.G290R		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	290	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		GGCGCTTTCCCTTCCTCTTCC	0.443000														166			150		0	0	0.003610	0	0
TBX20	57057	broad.mit.edu	37	7	35280553	35280553	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:35280553A>G	uc011kas.2	-	4	1231	c.751T>C	c.(751-753)Ttt>Ctt	p.F251L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	251						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGTTCTAAATTCTTCAGAC	0.403000														28			15		0	0	0.003163	0	0
RYR2	6262	broad.mit.edu	37	1	237947370	237947370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:237947370G>A	uc001hyl.1	+	89	12478	c.12358G>A	c.(12358-12360)Gaa>Aaa	p.E4120K	RYR2_uc010pya.2_Missense_Mutation_p.E535K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4120					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)			GACTTTTCTGGAATTAGCAGA	0.512000														32			9		0	0	0.004482	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382494	41382494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41382494C>T	uc003jmm.1	-	1	348	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	82	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGTAAAATTCATTGTCTGAG	0.453000														43			25		0	0	0.002780	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823898	38823898	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:38823898G>A	uc003avs.1	-	1	337	c.240C>T	c.(238-240)atC>atT	p.I80I	KCNJ4_uc003avt.1_Silent_p.I80I|KCNJ4_uc021wpp.1_Silent_p.I80I	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	80					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGAAGAAGGCGATACACCAGA	0.687000														10			14		0	0	0.003163	0	0
ATP13A4	84239	broad.mit.edu	37	3	193177020	193177020	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:193177020G>A	uc003ftd.3	-	14	1632	c.1524_splice	c.e14-1	p.G508_splice	ATP13A4_uc003fte.1_Splice_Site_p.G508_splice|ATP13A4_uc011bsr.1_Splice_Site|ATP13A4_uc010hzi.3_Splice_Site|ATP13A4_uc003ftf.4_Splice_Site_p.G214_splice	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	508					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTCCTGAAAGCTTAAGGAGA	0.458000														26			18		0	0	0.001216	0	0
CABP5	56344	broad.mit.edu	37	19	48543927	48543927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:48543927C>T	uc002phu.2	-	2	305	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	58	EF-hand 1.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ACCCATCGTCCTCATGAGATT	0.512000														45			27		0	0	0.001786	0	0
CD163	9332	broad.mit.edu	37	12	7640126	7640126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7640126C>T	uc001qsz.3	-	7	2007	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	CD163_uc001qta.3_Missense_Mutation_p.G627R|CD163_uc009zfw.2_Missense_Mutation_p.G660R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	627	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGGGCAACTCCACATTTAAGC	0.522000														41			31		0	0	0.001786	0	0
HYDIN	54768	broad.mit.edu	37	16	70871596	70871596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70871596C>T	uc002ezr.3	-	76	13387	c.13236G>A	c.(13234-13236)atG>atA	p.M4412I	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.	4413			K -> E (in dbSNP:rs1774480).							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)				CTGTTACCTTCATTTTGGTAC	0.488000														33			26		0	0	0.005443	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55324584	55324584	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55324584C>T	uc010yfl.2	+	5	738	c.705C>T	c.(703-705)atC>atT	p.I235I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Silent_p.I220I|KIR3DL2_uc021vbn.1_Silent_p.I237I|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	335					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)		CTCCAGGTATCGCCAGACACC	0.458000														5			39		0	0	0.001706	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704272	56704272	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56704272G>A	uc010ygh.2	-	0	150	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	50	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGGGCAGCTGAACATCCTGA	0.572000														17			12		0	0	0.002450	0	0
TEX13A	56157	broad.mit.edu	37	X	104463949	104463949	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:104463949G>A	uc004ema.3	-	3	1033	c.921C>T	c.(919-921)tcC>tcT	p.S307S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.P310L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	309						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTGAGAAGGAGGAAAAAGGGC	0.532000														5			18		0	0	0.001523	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910264	108910264	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108910264C>T	uc002tdy.3	+	1	594	c.141C>T	c.(139-141)taC>taT	p.Y47Y	SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc010ywq.2_Silent_p.Y47Y|SULT1C2_uc002tdx.3_Silent_p.Y47Y	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	47					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTGCACCTACCCTAAAGCAG	0.542000														15			13		0	0	0.001368	0	0
OR7D2	162998	broad.mit.edu	37	19	9296980	9296980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9296980C>T	uc002mkz.1	+	0	711	c.523C>T	c.(523-525)Cca>Tca	p.P175S		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	175					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTGAAATTCCACATTTTTT	0.458000														93			65		0	0	0.003610	0	0
CTSS	1520	broad.mit.edu	37	1	150724269	150724269	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150724269G>A	uc001evn.3	-	4	876	c.615C>T	c.(613-615)ccC>ccT	p.P205P	CTSS_uc010pcj.2_Silent_p.P155P	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	205					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTTTGTAGGGATAGGAAG	0.473000														80			38		0	0	0.005524	0	0
AMHR2	269	broad.mit.edu	37	12	53825060	53825060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53825060G>A	uc001scx.2	+	10	1605	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	AMHR2_uc009zmy.2_3'UTR|AMHR2_uc021qyg.1_Missense_Mutation_p.A414T	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	509	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCTGCCTTGGCCCATCCTCA	0.597000														20			21		0	0	0.001882	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324024	172324024	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:172324024C>T	uc003mbw.4	+	2	296	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ERGIC1_uc003mby.4_5'UTR	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	34					ER to Golgi vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCTGCCTCTTCATCCTCT	0.512000														9			18		0	0	0.001216	0	0
ENPEP	2028	broad.mit.edu	37	4	111470937	111470937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:111470937C>T	uc003iab.4	+	16	2738	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	799					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)	AATGAGATTTCATGGAACTAC	0.398000														42			31		0	0	0.003271	0	0
DSG3	1830	broad.mit.edu	37	18	29052340	29052340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29052340G>A	uc002kws.3	+	12	2100	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	664					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)			GGCTCAGAAGGAACAATTCAT	0.458000														34			20		0	0	0.001523	0	0
PTGIS	5740	broad.mit.edu	37	20	48130849	48130849	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48130849G>A	uc002xut.3	-	6	993	c.939C>T	c.(937-939)ctC>ctT	p.L313L	PTGIS_uc010zyi.2_Silent_p.L174L	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	313					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)	GGATACTCTCGAGCTCTCCGC	0.587000														40			12		0	0	0.001368	0	0
PLEC	5339	broad.mit.edu	37	8	145006848	145006848	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145006848G>A	uc003zaf.1	-	14	2351	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PLEC_uc003zab.1_Silent_p.Y590Y|PLEC_uc003zac.1_Silent_p.Y594Y|PLEC_uc003zad.2_Silent_p.Y590Y|PLEC_uc003zae.1_Silent_p.Y558Y|PLEC_uc003zag.1_Silent_p.Y568Y|PLEC_uc003zah.2_Silent_p.Y576Y|PLEC_uc003zaj.2_Silent_p.Y617Y	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	727	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGTCACGGTAGGCACCCC	0.721000														5			4		0	0	0.000248	0	0
MCL1	4170	broad.mit.edu	37	1	150551546	150551546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150551546G>A	uc001euz.3	-	0	669	c.461C>T	c.(460-462)aCc>aTc	p.T154I	MCL1_uc010pch.2_Missense_Mutation_p.T44I|MCL1_uc021oyf.1_Intron|MCL1_uc001eva.3_Missense_Mutation_p.T154I	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	154	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCGTACTGGTGTTATTACC	0.642000														26			31		0	0	0.001786	0	0
BCL6	604	broad.mit.edu	37	3	187442795	187442795	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:187442795G>A	uc003frp.3	-	8	2368	c.1911C>T	c.(1909-1911)acC>acT	p.T637T	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Silent_p.T581T|BCL6_uc010hza.2_Silent_p.T535T|BCL6_uc003frq.2_Silent_p.T637T	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	637					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCCGGAAACGGGTGCCACAGA	0.552000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									40			22		0	0	0.001882	0	0
GALNTL5	168391	broad.mit.edu	37	7	151704932	151704932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:151704932G>A	uc003wkp.3	+	6	1199	c.929G>A	c.(928-930)gGa>gAa	p.G310E	GALNTL5_uc010lqf.3_Missense_Mutation_p.G199E|GALNTL5_uc003wkq.3_Missense_Mutation_p.G61E|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	310	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGTCTGGAGGAATTTTTGCT	0.328000														51			64		0	0	0.003610	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783131	22783131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22783131G>A	uc001wdq.2	+	1	134	c.127G>A	c.(127-129)Gga>Aga	p.G43R	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		CGTCTCGGAGGGAGCATCTGT	0.498000														31			17		0	0	0.004007	0	0
FAM83A	84985	broad.mit.edu	37	8	124195494	124195494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124195494C>T	uc003ypv.3	+	1	2412	c.398C>T	c.(397-399)tCc>tTc	p.S133F	FAM83A_uc003ypw.3_Missense_Mutation_p.S133F|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.S133F|FAM83A_uc003ypy.3_Missense_Mutation_p.S133F|FAM83A_uc003ypz.3_Missense_Mutation_p.S133F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	133										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)			AAGGAAAAATCCAGCGCCACT	0.607000														44			75		0	0	0.003610	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239522	2239522	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2239522C>T	uc010bsg.1	-	3	320	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	96					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCTTCATGGGCTCCTTCCGGC	0.672000														6			8		0	0	0.000673	0	0
SMG5	23381	broad.mit.edu	37	1	156247024	156247024	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156247024G>A	uc001foc.4	-	3	455	c.306C>T	c.(304-306)caC>caT	p.H102H		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	102					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGCTCCGGCTGTGGATGTGCT	0.527000														9			18		0	0	0.001216	0	0
CILP2	148113	broad.mit.edu	37	19	19654194	19654194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19654194C>T	uc002nmw.4	+	6	1218	c.1133C>T	c.(1132-1134)aCt>aTt	p.T378I	CILP2_uc002nmv.4_Missense_Mutation_p.T372I	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	372						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCTCGGGCACTGCCCGGCTC	0.647000														32			23		0	0	0.003330	0	0
MTBP	27085	broad.mit.edu	37	8	121457755	121457755	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121457755C>T	uc003ypc.1	+	0	90	c.45C>T	c.(43-45)ttC>ttT	p.F15F	MRPL13_uc003ypa.3_5'Flank|MRPL13_uc010mdf.3_5'Flank|MTBP_uc003ypb.1_Silent_p.F15F|MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	15					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGGAAAATTCCCGTCGGCGG	0.592000														25			49		0	0	0.003610	0	0
OR10C1	442194	broad.mit.edu	37	6	29408570	29408570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29408570C>T	uc011dlp.2	+	0	855	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	260					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						TATCTATATTCGCCCTAAGGC	0.582000														87			70		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	167992424	167992424	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167992424G>A	uc002udx.3	+	2	503	c.414G>A	c.(412-414)gtG>gtA	p.V138V	XIRP2_uc010fpn.3_Silent_p.V138V|XIRP2_uc010fpo.3_Silent_p.V138V|XIRP2_uc002udy.3_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACAGGAAGTGGAAATTGAGC	0.428000														45			26		0	0	0.003330	0	0
GLIS3	169792	broad.mit.edu	37	9	3829444	3829444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:3829444G>A	uc003zhx.1	-	9	3235	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	GLIS3_uc010mhf.1_Missense_Mutation_p.S235F|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.S686F	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	686					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AATTCTCTGGGAATCGGGGTA	0.532000														12			20		0	0	0.003954	0	0
NPAT	4863	broad.mit.edu	37	11	108043009	108043009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108043009G>A	uc001pjz.4	-	12	2804	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Missense_Mutation_p.P696L	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	901					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGGTGGTAGAGGTTGAGCAGT	0.428000														88			40		0	0	0.001485	0	0
ABCA9	10350	broad.mit.edu	37	17	67017883	67017883	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67017883C>T	uc002jhu.3	-	18	2544	c.2401_splice	c.e18+1	p.D801_splice	ABCA9_uc010dez.3_Splice_Site_p.D801_splice	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	801					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					tttttcttACCTGATTCATCA	0.328000														11			65		0	0	0.003610	0	0
FRG1	2483	broad.mit.edu	37	4	190873350	190873350	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:190873350T>A	uc003izs.3	+	2	358	c.167T>A	c.(166-168)aTt>aAt	p.I56N		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	56					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTGGTGAAATTTCAGGAACC	0.338000														98			52		0	0	0.003610	0	0
RSPH10B	222967	broad.mit.edu	37	7	6820488	6820488	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:6820488G>A	uc003sqw.1	+	13	1849	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	RSPH10B_uc010ktk.1_Silent_p.E526E|RSPH10B_uc011jxc.2_Intron|RSPH10B_uc010ktl.2_Intron	NM_173565	NP_001093167	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	526										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGATGACCGAGAACATTCGTC	0.373000														114			29		0	0	0.001485	0	0
KCNB2	9312	broad.mit.edu	37	8	73848771	73848772	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73848771_73848772GG>AA	uc003xzb.3	+	2	1769_1770	c.1181_1182GG>AA	c.(1180-1182)ggg>gAA	p.G394E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L393L(1)		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)			ACATTACTAGGGAAAATTGTGG	0.441000														41			45		0	0	0.004672	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159496	92159496	+	Missense_Mutation	SNP	G	A	A	rs139686935		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:92159496G>A	uc001xzs.1	-	8	945	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	269					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R269C(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGGATAACGAAGATCTTCA	0.323000														20			85		0	0	0.003610	0	0
ST7L	54879	broad.mit.edu	37	1	113124694	113124694	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:113124694T>C	uc001ecd.3	-	8	1294	c.989A>G	c.(988-990)aAc>aGc	p.N330S	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Missense_Mutation_p.N147S|ST7L_uc010owg.2_Missense_Mutation_p.N265S|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Missense_Mutation_p.N313S|ST7L_uc001ece.3_Missense_Mutation_p.N330S|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Missense_Mutation_p.N265S|ST7L_uc001ech.3_Missense_Mutation_p.N313S|ST7L_uc001eci.3_Missense_Mutation_p.N330S|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.N313S	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	330					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATGGATGTTCAACATGGT	0.348000														56			39		0	0	0.003610	0	0
NPIP	9284	broad.mit.edu	37	16	14859211	14859211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:14859211C>T	uc002dct.3	+	7	994	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S		NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	332	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											CAAGACACCTCCCAAGTGTGT	0.458000														13			5		0	0	0.003163	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182852557	182852557	+	Missense_Mutation	SNP	C	T	T	rs143581354	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:182852557C>T	uc010frm.1	+	1	381	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	PPP1R1C_uc002uoo.3_Intron|PPP1R1C_uc002uop.1_Intron|PPP1R1C_uc010frn.1_Intron	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA.	27					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			GGGCTTTTGTCGTTCACAGAT	0.453000														90			50		0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	97311499	97311499	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:97311499C>T	uc010how.1	+	11	2473	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.F176F|EPHA6_uc003drs.4_Silent_p.F202F|EPHA6_uc003drr.4_Silent_p.F202F|EPHA6_uc003drt.3_Silent_p.F202F|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	715	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCAGCTTCCTGAGGGCAG	0.488000														31			22		0	0	0.002299	0	0
IGFBP6	3489	broad.mit.edu	37	12	53495889	53495889	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53495889T>A	uc001sbu.1	+	3	727	c.661T>A	c.(661-663)Tcc>Acc	p.S221T	SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	221	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GATGGGCAAGTCCCTGCCAGG	0.652000														12			18		0	0	0.000958	0	0
CD109	135228	broad.mit.edu	37	6	74481165	74481166	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74481165_74481166GG>AA	uc003php.3	+	14	2119_2120	c.1688_1689GG>AA	c.(1687-1689)tgg>tAA	p.W563*	CD109_uc003phq.3_Nonsense_Mutation_p.W563*|CD109_uc010kba.3_Nonsense_Mutation_p.W486*	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	563						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTATATTGGAGTAAAGTGA	0.381000														35			29		0	0	0.004672	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36375118	36375118	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36375118G>A	uc010wdn.1	-	0		c.60C>T			LOC440434_uc002hpx.2_Non-coding_Transcript			A6NER0	TBC3F_HUMAN	Homo sapiens aminopeptidase puromycin sensitive pseudogene (LOC440434), non-coding RNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						AGAGTACTAGGGAAAGACAAG	0.348000														38			16		0	0	0.001882	0	0
BAZ1A	11177	broad.mit.edu	37	14	35264087	35264087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:35264087G>A	uc001wsk.3	-	10	1799	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	BAZ1A_uc001wsl.3_Missense_Mutation_p.P411S	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	411					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTTGGTTCTGGAAGTTCCTGA	0.353000														6			55		0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49689666	49689667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49689666_49689667CC>TT	uc003cxe.4	+	4	2791_2792	c.2677_2678CC>TT	c.(2677-2679)ccc>TTc	p.P893F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	893					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCACTGCCCAAGAGGCGC	0.658000														10			4		0	0	0.004672	0	0
AP3B2	8120	broad.mit.edu	37	15	83349688	83349688	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:83349688G>A	uc010uoi.2	-	6	849	c.672C>T	c.(670-672)ctC>ctT	p.L224L	AP3B2_uc010uoh.2_Silent_p.L224L|AP3B2_uc010uoj.2_Silent_p.L192L|AP3B2_uc010uog.2_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	224					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGGTTACAGAGTTTCCGGT	0.597000														17			13		0	0	0.001368	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817373	45817373	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45817373G>A	uc011bai.2	-	3	586	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC6A20_uc011baj.2_Silent_p.L154L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	154					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCGAGATATTGAGGGTTTTCC	0.607000														45			27		0	0	0.001271	0	0
BCL11A	53335	broad.mit.edu	37	2	60688199	60688199	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:60688199G>A	uc002sae.1	-	3	2076	c.1848C>T	c.(1846-1848)ggC>ggT	p.G616G	BCL11A_uc002sab.3_Silent_p.G616G|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.G285G|BCL11A_uc010ypj.2_Silent_p.G582G|BCL11A_uc002sad.1_Silent_p.G464G|BCL11A_uc002saf.1_Silent_p.G582G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	616					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTTGGACAGGCCCCCCGAGG	0.667000			T	IGH@	B-CLL									94			65		0	0	0.003610	0	0
HSPG2	3339	broad.mit.edu	37	1	22207321	22207321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:22207321G>A	uc009vqd.3	-	14	1869	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	HSPG2_uc001bfj.3_Missense_Mutation_p.S609F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	609	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCGCCATAGGAGTCCACCTG	0.632000														9			4		0	0	0.000602	0	0
C10orf120	399814	broad.mit.edu	37	10	124458883	124458883	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124458883C>T	uc001lgn.3	-	1	254	c.222G>A	c.(220-222)ggG>ggA	p.G74G		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	74										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGGAGTATTTCCCAAGGGCAA	0.483000														26			17		0	0	0.003330	0	0
FMN2	56776	broad.mit.edu	37	1	240601478	240601478	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240601478G>A	uc010pye.2	+	16	5265	c.5040G>A	c.(5038-5040)tgG>tgA	p.W1680*	FMN2_uc010pyd.2_Nonsense_Mutation_p.W1676*|FMN2_uc010pyg.2_Nonsense_Mutation_p.W272*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1676	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGACTTCTGGAAGAAAGAGA	0.388000														56			55		0	0	0.003610	0	0
OFD1	8481	broad.mit.edu	37	X	13778281	13778281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:13778281C>T	uc004cvp.4	+	15	2061	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	OFD1_uc004cvr.4_Missense_Mutation_p.R135C|OFD1_uc011mil.2_Missense_Mutation_p.R135C|OFD1_uc004cvq.4_Missense_Mutation_p.R428C|OFD1_uc010nen.3_Missense_Mutation_p.R567C|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.R527C|OFD1_uc004cvv.4_Missense_Mutation_p.R527C	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	568					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.D567Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGTGATCGATCGTTCTGTCAA	0.418000														14			47		0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90086950	90086950	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90086950G>A	uc003kju.3	+	69	14400	c.14304G>A	c.(14302-14304)tcG>tcA	p.S4768S	GPR98_uc003kjt.3_Silent_p.S2474S|GPR98_uc003kjw.3_Silent_p.S429S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4768					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)		CCCTGTATTCGGATCGCCAGT	0.453000														11			10		0	0	0.000443	0	0
PPM1E	22843	broad.mit.edu	37	17	57043207	57043207	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:57043207G>T	uc002iwx.3	+	2	863	c.736G>T	c.(736-738)Gac>Tac	p.D246Y	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	255					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAAATGGAGGACAAACATGT	0.448000														12			54		2.23044e-30	4.71007e-30	0.003610	1	0
FSIP1	161835	broad.mit.edu	37	15	39910272	39910272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39910272C>T	uc001zki.3	-	10	1581	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	455								p.E455*(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTTTCTGATTCATTTAGCAAT	0.393000														50			45		0	0	0.002852	0	0
KLHL18	23276	broad.mit.edu	37	3	47385128	47385128	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:47385128C>T	uc003crd.3	+	9	1548	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	KLHL18_uc011bav.2_Silent_p.S362S	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	474								p.A473T(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAGCCGCCTCCCTGGGGAGCA	0.617000														30			13		0	0	0.001368	0	0
OR13G1	441933	broad.mit.edu	37	1	247836113	247836113	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247836113C>T	uc001idi.1	-	0	231	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCCAGCATCTTCGGTATGA	0.458000														33			12		0	0	0.000978	0	0
ROCK1P1	727758	broad.mit.edu	37	18	117127	117127	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:117127C>T	uc002kke.3	+	2		c.553C>T								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		TTTCCAAAATCACAAAGGCCA	0.413000														15			13		0	0	0.004007	0	0
MYO18B	84700	broad.mit.edu	37	22	26231410	26231410	+	Splice_Site	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26231410G>T	uc003abz.1	+	17	3458	c.3208_splice	c.e17+1	p.G1070_splice	MYO18B_uc003aca.1_Splice_Site_p.G951_splice|MYO18B_uc010guy.1_Splice_Site_p.G952_splice|MYO18B_uc010guz.1_Splice_Site_p.G951_splice|MYO18B_uc011aka.1_Splice_Site_p.G224_splice|MYO18B_uc011akb.1_Splice_Site_p.G583_splice	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1070	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGGACTGAAGGTAAGGAAGC	0.562000														43			27		1.88708e-17	3.97283e-17	0.001512	1	0
OR1E1	8387	broad.mit.edu	37	17	3301102	3301102	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:3301102G>A	uc002fvj.1	-	0	603	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GCCCTCCCATGATAAATATCA	0.458000														6			32		0	0	0.005524	0	0
TNS1	7145	broad.mit.edu	37	2	218682809	218682809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:218682809G>A	uc002vgt.2	-	23	4332	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	TNS1_uc002vgr.2_Missense_Mutation_p.P1299S|TNS1_uc002vgs.2_Missense_Mutation_p.P1291S|TNS1_uc010zjv.1_Missense_Mutation_p.P1291S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1312						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P1312S(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCTGCCGGGAACCACAGAT	0.632000														13			8		0	0	0.004482	0	0
FDCSP	260436	broad.mit.edu	37	4	71099792	71099792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71099792C>T	uc003hfd.3	+	3	258	c.146C>T	c.(145-147)cCa>cTa	p.P49L		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	Homo sapiens follicular dendritic cell secreted protein (FDCSP), mRNA.	49	Pro-rich.					extracellular region											TACCCATATCCATTTCGCCCA	0.393000														100			46		0	0	0.003610	0	0
CNTLN	54875	broad.mit.edu	37	9	17466874	17466874	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:17466874C>T	uc003zmz.2	+	22	3863	c.3837C>T	c.(3835-3837)ttC>ttT	p.F1279F	CNTLN_uc003zmy.3_Silent_p.F1280F|CNTLN_uc010mio.3_Silent_p.F959F	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1280						centriole|membrane	two-component sensor activity	p.E1279V(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAGAAGAGTTCACCACATTTG	0.393000														14			36		0	0	0.001951	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701771	96701771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96701771G>A	uc001kka.4	+	1	350	c.325G>A	c.(325-327)Gga>Aga	p.G109R	CYP2C9_uc009xut.3_Missense_Mutation_p.G109R|CYP2C9_uc001kjz.3_Missense_Mutation_p.G109R	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	109					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTAACAGAGGATTTGGTAG	0.512000														55			35		0	0	0.004878	0	0
SPPL3	121665	broad.mit.edu	37	12	121206784	121206784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121206784G>A	uc001tzd.3	-	6	1066	c.581C>T	c.(580-582)tCa>tTa	p.S194L	SPPL3_uc001tzc.3_Missense_Mutation_p.S24L	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	195						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAAGCCCTGAGAGAAGCAG	0.532000														8			11		0	0	0.001855	0	0
DCN	1634	broad.mit.edu	37	12	91546958	91546958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91546958G>A	uc001tbt.3	-	5	915	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DCN_uc001tbo.3_Missense_Mutation_p.P112S|DCN_uc001tbp.3_Missense_Mutation_p.P74S|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.P221S	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	221					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTAAGGGAAGGAGGAAGACCT	0.343000														44			30		0	0	0.001786	0	0
ASZ1	136991	broad.mit.edu	37	7	117007497	117007497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:117007497G>A	uc003vjb.2	-	11	1247	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	ASZ1_uc011kno.1_Intron|ASZ1_uc011knp.1_Missense_Mutation_p.P187L	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	395					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AAAATTCTGGGGAGAAGCCCA	0.284000														10			69		0	0	0.003610	0	0
MPP7	143098	broad.mit.edu	37	10	28420556	28420556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:28420556G>A	uc001iua.1	-	7	784	c.380C>T	c.(379-381)cCt>cTt	p.P127L	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.P127L|MPP7_uc009xla.2_Missense_Mutation_p.P127L|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	127					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AATATCTTCAGGCATAGGAGG	0.388000														32			31		0	0	0.001786	0	0
NOX4	50507	broad.mit.edu	37	11	89166022	89166022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89166022G>A	uc001pct.3	-	6	717	c.478C>T	c.(478-480)Cct>Tct	p.P160S	NOX4_uc009yvr.3_Missense_Mutation_p.P135S|NOX4_uc001pcu.3_Missense_Mutation_p.P86S|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.P160S|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_5'UTR|NOX4_uc009yvp.3_Missense_Mutation_p.P160S|NOX4_uc010rtv.2_Missense_Mutation_p.P136S|NOX4_uc009yvq.3_Missense_Mutation_p.P136S|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	160	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCAGGCCAGGAACTATAAAA	0.348000														19			7		0	0	0.003080	0	0
HCN1	348980	broad.mit.edu	37	5	45303941	45303941	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:45303941C>T	uc003jok.3	-	6	1403	c.1378_splice	c.e6-1	p.E460_splice		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	460						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGACTATCTCCTAAAGATGT	0.333000														75			45		0	0	0.003610	0	0
UBA6	55236	broad.mit.edu	37	4	68500030	68500030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:68500030G>A	uc003hdg.4	-	21	1995	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	648					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTGGGAAAAGGAACTTTCAAA	0.269000														44			27		0	0	0.002445	0	0
MSANTD1	345222	broad.mit.edu	37	4	3251199	3251199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:3251199G>A	uc003ggs.3	+	0	433	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.	84										endometrium(1)|lung(2)	3						CAAGCTCTTCGAGATGACCGG	0.607000														19			7		0	0	0.001984	0	0
C10orf120	399814	broad.mit.edu	37	10	124457734	124457734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124457734G>A	uc001lgn.3	-	2	555	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	175								p.R175R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCCAGAGCCCGAGCAAGCCTC	0.498000														68			44		0	0	0.003610	0	0
GNRHR	2798	broad.mit.edu	37	4	68606325	68606325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:68606325C>T	uc003hdn.3	-	2	2611	c.860G>A	c.(859-861)gGa>gAa	p.G287E	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Silent_p.R244R|BC045560_uc003hdo.1_5'Flank	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	287					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATACCAAATTCCTAGGACATA	0.403000														112			69		0	0	0.003610	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795943	21795943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21795943G>A	uc001wag.3	+	16	2872	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E600K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E284K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E433K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E341K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E317K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E275K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	958	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATCTGAAGAGGAAAAGGCTTC	0.463000														13			4		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179629430G>A	uc021vsy.1	-	41	10037	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3271	Ig-like 19.						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)			CTTGTACCAGGAAATTTTGGG	0.527000														52			41		0	0	0.001951	0	0
P2RY10	27334	broad.mit.edu	37	X	78216791	78216791	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:78216791C>T	uc022bzl.1	+	0	774	c.774C>T	c.(772-774)ccC>ccT	p.P258P	P2RY10_uc004ede.3_Silent_p.P258P|P2RY10_uc004edf.3_Silent_p.P258P	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	258						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTTCACTCCCTATCATATTA	0.453000														5			39		0	0	0.004878	0	0
CD244	51744	broad.mit.edu	37	1	160811674	160811674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160811674C>T	uc009wtq.3	-	1	304	c.79G>A	c.(79-81)Gac>Aac	p.D27N	CD244_uc001fxa.3_Missense_Mutation_p.D27N|CD244_uc009wtr.3_Missense_Mutation_p.D27N|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	27	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCACATGGTCAGCTGATCCC	0.512000														28			17		0	0	0.000958	0	0
MYH2	4620	broad.mit.edu	37	17	10440695	10440695	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10440695G>A	uc010coi.3	-	15	1880	c.1752C>T	c.(1750-1752)caC>caT	p.H584H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.H584H|MYH2_uc010coj.3_Silent_p.H584H	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	584	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						CACCAGCATAGTGAATCAGAG	0.527000														17			87		0	0	0.003610	0	0
ANKRD24	170961	broad.mit.edu	37	19	4224189	4224189	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4224189G>A	uc010dtt.1	+	21	3639	c.3363_splice	c.e21+1	p.Q1121_splice		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1121										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGCCATTCAGGTGAGtggcc	0.597000														14			7		0	0	0.001984	0	0
BMPR1B	658	broad.mit.edu	37	4	96070058	96070058	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:96070058G>A	uc003htm.4	+	10	1510	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	BMPR1B_uc010ilb.3_Silent_p.R412R|BMPR1B_uc003htn.4_Silent_p.R412R	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	412	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGGTTGCTAGGAGATGTGTAT	0.403000														53			30		0	0	0.003271	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192477	132192477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:132192477G>A	uc003vra.4	-	1	1205	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	PLXNA4_uc003vrc.2_Missense_Mutation_p.L326F|PLXNA4_uc003vrb.3_Missense_Mutation_p.L326F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	326	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGACTCCAAGGGTCCTGCCA	0.587000														24			29		0	0	0.001512	0	0
CACNA1D	776	broad.mit.edu	37	3	53769521	53769521	+	Silent	SNP	C	T	T	rs147601660	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:53769521C>T	uc003dgv.4	+	19	2905	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F	CACNA1D_uc003dgu.4_Silent_p.F934F|CACNA1D_uc003dgy.4_Silent_p.F914F|CACNA1D_uc003dgw.4_Silent_p.F581F|CACNA1D_uc003dgx.1_Silent_p.F62F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	914					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCCACTCCTTCCGGAACACGG	0.617000														17			14		0	0	0.002450	0	0
CLIP2	7461	broad.mit.edu	37	7	73768221	73768221	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:73768221G>A	uc003uam.3	+	3	1017	c.690G>A	c.(688-690)acG>acA	p.T230T	CLIP2_uc003uan.3_Silent_p.T230T	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	230						microtubule associated complex		p.G229W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TTGGCGGGACGAAGACTGGCG	0.637000														47			32		0	0	0.005524	0	0
LAMB1	3912	broad.mit.edu	37	7	107626734	107626734	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107626734G>A	uc003vev.2	-	3	731	c.570C>T	c.(568-570)ttC>ttT	p.F190F	LAMB1_uc003vew.2_Silent_p.F166F|LAMB1_uc003vex.3_Silent_p.F166F|LAMB1_uc010ljn.1_Silent_p.F252F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	166	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCATAGGCGAAGTATCTAT	0.448000														72			29		0	0	0.002836	0	0
COL5A3	50509	broad.mit.edu	37	19	10108691	10108691	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10108691A>T	uc002mmq.1	-	9	1255	c.1169T>A	c.(1168-1170)tTt>tAt	p.F390Y		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	390	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGTCCCTCAAACTGCTGCCC	0.552000														67			33		0	0	0.002096	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647532	92647532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:92647532G>A	uc002bqx.2	+	3	970	c.769G>A	c.(769-771)Gac>Aac	p.D257N	SLCO3A1_uc002bqy.2_Missense_Mutation_p.D257N|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.D199N	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	257					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CACTCCGGACGACCCCCGCTG	0.542000														88			49		0	0	0.003610	0	0
ANKRD1	27063	broad.mit.edu	37	10	92675338	92675338	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:92675338G>A	uc001khe.1	-	7	1059	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	271					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACATAATCAGGAGTCGGATC	0.468000														24			20		0	0	0.003330	0	0
TOLLIP	54472	broad.mit.edu	37	11	1311530	1311530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1311530G>A	uc001lte.3	-	2	457	c.293C>T	c.(292-294)cCc>cTc	p.P98L	TOLLIP_uc001ltd.3_Missense_Mutation_p.P29L|TOLLIP_uc009ycu.3_Intron|TOLLIP_uc001ltf.3_Missense_Mutation_p.P48L	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	Homo sapiens toll interacting protein (TOLLIP), mRNA.	98	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	Toll-like receptor binding|kinase binding|signal transducer activity			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		ATTCCAGCGGGGATTCTTGGC	0.597000														16			9		0	0	0.000443	0	0
SGCZ	137868	broad.mit.edu	37	8	14412322	14412322	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:14412322G>A	uc003wwq.3	-	1	813	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SGCZ_uc010lss.3_Silent_p.F38F	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	38					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAAGGACAAAGAAGTATAAGC	0.383000														20			108		0	0	0.003610	0	0
RASSF4	83937	broad.mit.edu	37	10	45467207	45467207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:45467207C>T	uc001jbp.3	+	1	1691	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	RASSF4_uc001jbo.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	0					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACATGTGTGTCTTTCCCTTTT	0.537000														37			17		0	0	0.001523	0	0
TRANK1	9881	broad.mit.edu	37	3	36873995	36873995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36873995C>T	uc003cgj.3	-	20	7195	c.6947G>A	c.(6946-6948)aGg>aAg	p.R2316K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2316					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTGAGTTCCCTGTTGTAGTT	0.512000														46			39		0	0	0.002522	0	0
PENK	5179	broad.mit.edu	37	8	57354100	57354100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:57354100C>T	uc003xsz.2	-	1	616	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PENK_uc003xta.3_Missense_Mutation_p.E179K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	179					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)			ACTTCTTCCTCATTATCACTG	0.532000														66			80		0	0	0.003610	0	0
AHR	196	broad.mit.edu	37	7	17378725	17378725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:17378725C>T	uc011jxz.1	+	9	1889	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	426					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CATAATGGATCCCTTACCACT	0.448000														72			45		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106790991	106790991	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106790991C>T	uc021ser.1	-	619		c.17401G>A								Parts of antibodies, mostly variable regions.																		ACAATGACTTCCCCTCACTGT	0.562000														76			83		0	0	0.003610	0	0
CDC14C	168448	broad.mit.edu	37	7	48964962	48964962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:48964962C>T	uc010kyv.1	+	0	806	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TACCATTATTCGTCTGAATAA	0.418000														10			9		0	0	0.003163	0	0
DNAH9	1770	broad.mit.edu	37	17	11671837	11671837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:11671837C>T	uc002gne.3	+	36	7306	c.7238C>T	c.(7237-7239)tCc>tTc	p.S2413F	DNAH9_uc010coo.3_Missense_Mutation_p.S1707F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2413					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)		AAGTTTCCTTCCCAAGGAACC	0.502000														6			44		0	0	0.001951	0	0
CPXM2	119587	broad.mit.edu	37	10	125557535	125557536	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125557535_125557536CC>TT	uc001lhk.1	-	5	1170_1171	c.845_846GG>AA	c.(844-846)ggg>gAA	p.G282E	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	282	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGCAGATGCTCCCATTATCAAA	0.554000														21			21		0	0	0.004672	0	0
RYR3	6263	broad.mit.edu	37	15	33765646	33765646	+	Silent	SNP	C	T	T	rs142065681	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:33765646C>T	uc001zhi.3	+	1	148	c.78C>T	c.(76-78)atC>atT	p.I26I	RYR3_uc010bar.3_Silent_p.I26I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	26					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)		TCCAGTGCATCGCCACCATTC	0.557000														62			39		0	0	0.001706	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028577	97028577	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97028577C>T	uc001kkh.3	-	2	400	c.291G>A	c.(289-291)ggG>ggA	p.G97G		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	97					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GATGACGCTTCCCTTCCTCCG	0.443000														35			20		0	0	0.005443	0	0
FEZF1	389549	broad.mit.edu	37	7	121943281	121943281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:121943281C>T	uc003vkd.3	-	1	960	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	FEZF1_uc003vkc.3_Missense_Mutation_p.G246S|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	296					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGCCTGAAACCTTTTCCGCAC	0.463000														56			88		0	0	0.003610	0	0
CDH4	1002	broad.mit.edu	37	20	60419799	60419799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:60419799G>A	uc002ybn.2	+	4	740	c.652G>A	c.(652-654)Gag>Aag	p.E218K	CDH4_uc002ybr.2_Missense_Mutation_p.E181K|CDH4_uc002ybp.2_Missense_Mutation_p.E144K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	218	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCCCCATGGAGGTCTTCAG	0.607000														56			16		0	0	0.000958	0	0
SULF1	23213	broad.mit.edu	37	8	70517105	70517105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:70517105G>A	uc003xyg.2	+	11	1876	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SULF1_uc010lza.1_Missense_Mutation_p.E439K|SULF1_uc003xyd.2_Missense_Mutation_p.E439K|SULF1_uc003xye.2_Missense_Mutation_p.E439K|SULF1_uc003xyf.2_Missense_Mutation_p.E439K|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	439					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCCCAAATATGAACGGGTCAA	0.473000														41			81		0	0	0.003610	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069189	82069190	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:82069189_82069190CC>TG	uc002fgv.3	+	0	332_333	c.160_161CC>TG	c.(160-162)cct>TGt	p.P54C		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	54					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CATCCTGTCCCCTTTTTGGGGC	0.515000														23			8		0	0	0.004672	0	0
FAM73A	374986	broad.mit.edu	37	1	78309083	78309083	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:78309083C>T	uc010ork.2	+	7	1019	c.987C>T	c.(985-987)tcC>tcT	p.S329S	FAM73A_uc001dhx.3_Silent_p.S329S|FAM73A_uc010orl.2_Silent_p.S291S|FAM73A_uc001dhy.1_Silent_p.S118S	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	329						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCTTTGCTTCCGCAGCAGAGG	0.413000														36			35		0	0	0.004289	0	0
DNAH3	55567	broad.mit.edu	37	16	20944715	20944715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20944715G>A	uc010vbe.2	-	61	12112	c.12112C>T	c.(12112-12114)Ctc>Ttc	p.L4038F	DNAH3_uc010vbd.2_Missense_Mutation_p.L1473F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	4038					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L4038V(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTTGGGGAGAGATTCCCCA	0.498000														53			40		0	0	0.001485	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464387	110464387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110464387G>A	uc003yne.3	+	41	6489	c.6385G>A	c.(6385-6387)Gaa>Aaa	p.E2129K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2129	IPT/TIG 14.				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)			CACCATAGCTGAAGCCAAATG	0.398000										HNSCC(38;0.096)				28			38		0	0	0.002852	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158389972G>A	uc010pii.2	-	0	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTGTGGAAGGAAACTGAAGT	0.448000														29			33		0	0	0.004289	0	0
DNAH6	1768	broad.mit.edu	37	2	84811345	84811345	+	Missense_Mutation	SNP	G	A	A	rs111548143		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:84811345G>A	uc010fgb.3	+	14	2589	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	DNAH6_uc002soo.3_Missense_Mutation_p.E397K|DNAH6_uc002sop.3_Missense_Mutation_p.E397K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	818	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTAAACAACGAAGTGAATGA	0.308000														36			23		0	0	0.002299	0	0
GABBR2	9568	broad.mit.edu	37	9	101073469	101073469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:101073469C>T	uc004ays.3	-	13	2372	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	638					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATGGAGATATCCCGTCCTGCT	0.547000														3			27		0	0	0.001786	0	0
DSG1	1828	broad.mit.edu	37	18	28934291	28934291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28934291G>A	uc002kwp.3	+	14	2344	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	DSG1_uc010xbp.2_Missense_Mutation_p.G70E	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	711					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAGATGAAGGACGCCCATCT	0.388000														53			30		0	0	0.003271	0	0
OR5D14	219436	broad.mit.edu	37	11	55563790	55563790	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55563790C>T	uc010rim.2	+	0	759	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I252F(1)		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)				TCACCATCTTCCATGGGACCA	0.463000														25			17		0	0	0.001216	0	0
LINGO3	645191	broad.mit.edu	37	19	2290660	2290660	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:2290660G>A	uc010dsx.1	-	1	1244	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Silent_p.F372F|AX747191_uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	372	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						GCCGCCCGTCGAAGTTGAGGG	0.692000														5			7		0	0	0.001984	0	0
ADCY7	113	broad.mit.edu	37	16	50345624	50345624	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50345624G>A	uc002egd.1	+	18	2643	c.2375G>A	c.(2374-2376)tGg>tAg	p.W792*		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGCTGTTCCTGGAAGGACCTG	0.592000														83			40		0	0	0.003610	0	0
NRP1	8829	broad.mit.edu	37	10	33469267	33469267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:33469267C>T	uc001iwx.4	-	16	3032	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	NRP1_uc001iwv.4_Missense_Mutation_p.G820R|NRP1_uc001iwy.4_Missense_Mutation_p.G830R|NRP1_uc009xlz.3_Missense_Mutation_p.G831R|NRP1_uc001iww.4_Missense_Mutation_p.G649R	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	837					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCACCTTCTCCTTCACCTTCG	0.493000														70			43		0	0	0.003214	0	0
CUL4A	8451	broad.mit.edu	37	13	113899313	113899313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:113899313C>T	uc021rmv.1	+	12	1395	c.1384C>T	c.(1384-1386)Ctt>Ttt	p.L462F	CUL4A_uc021rmu.1_Missense_Mutation_p.L362F|CUL4A_uc010agu.3_Missense_Mutation_p.L323F|CUL4A_uc010tjz.2_Missense_Mutation_p.L141F	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	462					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAAAAGACTCCTTGTTGGGAA	0.408000														7			18		0	0	0.001523	0	0
CSMD3	114788	broad.mit.edu	37	8	113662510	113662510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113662510C>T	uc003ynu.3	-	18	3232	c.3073G>A	c.(3073-3075)Gat>Aat	p.D1025N	CSMD3_uc003yns.3_Missense_Mutation_p.D297N|CSMD3_uc003ynt.3_Missense_Mutation_p.D985N|CSMD3_uc011lhx.2_Missense_Mutation_p.D921N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1025	Sushi 5.					integral to membrane|plasma membrane		p.H1024N(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						ATGGAGAAATCATGACCATAG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				68			89		0	0	0.003610	0	0
C20orf4	25980	broad.mit.edu	37	20	34832831	34832831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:34832831C>T	uc002xfe.1	+	2	1276	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	C20orf4_uc002xfc.2_Missense_Mutation_p.L324F	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	Homo sapiens chromosome 20 open reading frame 4 (C20orf4), mRNA.	324										central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|skin(1)	14	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AGACAACTTCCTCACCAGCAC	0.493000														47			19		0	0	0.001882	0	0
PUM1	9698	broad.mit.edu	37	1	31426706	31426706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:31426706G>A	uc001bsi.1	-	14	2559	c.2446C>T	c.(2446-2448)Cgt>Tgt	p.R816C	PUM1_uc001bsf.1_Missense_Mutation_p.R482C|PUM1_uc001bsh.1_Missense_Mutation_p.R816C|PUM1_uc001bsj.1_Missense_Mutation_p.R790C|PUM1_uc010oga.1_Missense_Mutation_p.R672C|PUM1_uc001bsk.1_Missense_Mutation_p.R852C|PUM1_uc010ogb.1_Missense_Mutation_p.R757C	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	816					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.R816H(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TATCGCAAACGAGAGGAAGAG	0.522000														84			82		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720749	140720749	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140720749C>A	uc003ljk.2	+	0	2396	c.2211C>A	c.(2209-2211)agC>agA	p.S737R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.S737R|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	735					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)			GCATGCAGAGCTCGCACTTTG	0.627000														11			32		4.02929e-09	8.44321e-09	0.002096	1	0
BTBD11	121551	broad.mit.edu	37	12	108051355	108051355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:108051355G>A	uc001tmk.1	+	16	3696	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	BTBD11_uc001tml.1_Missense_Mutation_p.E596K|BTBD11_uc001tmm.1_Missense_Mutation_p.E138K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1059						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGTCCTCATTGAAAACGAAGC	0.478000														31			20		0	0	0.001523	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679502	160679502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:160679502C>T	uc003qtf.3	-	0	462	c.288G>A	c.(286-288)tgG>tgA	p.W96*	SLC22A2_uc003qth.2_Nonsense_Mutation_p.W96*	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	96					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGCTCTGGTTCCAGTCCACCT	0.677000														35			24		0	0	0.005443	0	0
DNAH17	8632	broad.mit.edu	37	17	76563248	76563248	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76563248C>T	uc010dhp.2	-	10	1410	c.1285_splice	c.e10-1	p.E429_splice	DNAH17_uc002jvv.2_Splice_Site_p.E131_splice	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTATAGAGTTCCTAGTGGAGG	0.517000														2			5		0	0	0.000602	0	0
DPP10	57628	broad.mit.edu	37	2	116497382	116497382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:116497382G>A	uc002tle.3	+	8	798	c.777G>A	c.(775-777)atG>atA	p.M259I	DPP10_uc002tla.2_Missense_Mutation_p.M255I|DPP10_uc002tlb.2_Missense_Mutation_p.M205I|DPP10_uc002tlc.2_Missense_Mutation_p.M251I|DPP10_uc002tlf.2_Missense_Mutation_p.M248I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	255					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTCCTGATGATAAATGACT	0.453000														42			37		0	0	0.005524	0	0
SLC5A1	6523	broad.mit.edu	37	22	32506127	32506127	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32506127G>A	uc003amc.3	+	14	2172	c.1922G>A	c.(1921-1923)tGg>tAg	p.W641*	SLC5A1_uc011alz.2_Nonsense_Mutation_p.W514*	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	641					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AAGCCTTTGTGGAGGACAGTG	0.488000														47			26		0	0	0.004656	0	0
HEG1	57493	broad.mit.edu	37	3	124739768	124739768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:124739768G>A	uc011bke.2	-	3	1188	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	HEG1_uc003ehs.4_Missense_Mutation_p.L374F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	350						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGGGTGAAAGAAGGACTGAG	0.488000														29			12		0	0	0.001368	0	0
CDH5	1003	broad.mit.edu	37	16	66436692	66436692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:66436692G>A	uc002eom.4	+	11	2131	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	659					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACCAGCTACGATGTGTCGGT	0.716000														8			4		0	0	0.000248	0	0
CRB1	23418	broad.mit.edu	37	1	197396898	197396898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197396898G>A	uc001gtz.3	+	6	2652	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	CRB1_uc010poz.2_Missense_Mutation_p.G746R|CRB1_uc009wza.3_Missense_Mutation_p.G703R|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.G296R|CRB1_uc001gub.1_Missense_Mutation_p.G464R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	815	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G815K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAAAACCTAGGATTTATTTC	0.348000														28			13		0	0	0.001855	0	0
PSG3	5671	broad.mit.edu	37	19	43376027	43376028	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43376027_43376028TC>AT	uc002ovd.1	-	2	738_739	c.600_601GA>AT	c.(598-603)aggacc>agATcc	p.T201S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.T201S|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.T201S|PSG3_uc002ovb.3_Missense_Mutation_p.T201S	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	201	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGAAAGAGGGTCCTGTTGGTTT	0.520000														139			98		0	0	0.004672	0	0
GNAZ	2781	broad.mit.edu	37	22	23465505	23465505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23465505G>A	uc002zwu.1	+	2	1492	c.955G>A	c.(955-957)Gag>Aag	p.E319K	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	319						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGAGACCAAGGAGATCTACTC	0.527000														12			14		0	0	0.003163	0	0
XIST	7503	broad.mit.edu	37	X	73068992	73068992	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73068992G>A	uc004ebm.1	-	0		c.3597C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TAGTCTTCATGATTAATGGGT	0.408000														2			29		0	0	0.001786	0	0
CCDC27	148870	broad.mit.edu	37	1	3670774	3670774	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3670774C>T	uc001akv.2	+	1	492	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	137										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCCCCCAGTTCAGCACCAGGG	0.622000														66			35		0	0	0.001287	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361947	105361947	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105361947G>A	uc010qqu.1	-	11	2840	c.2773C>T	c.(2773-2775)Cga>Tga	p.R925*	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Nonsense_Mutation_p.R817*|SH3PXD2A_uc010qqt.1_Nonsense_Mutation_p.R859*|SH3PXD2A_uc009xxn.1_Nonsense_Mutation_p.R817*|SH3PXD2A_uc001kxj.1_Nonsense_Mutation_p.R982*	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	1010					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGACGCCTCGGAGGCCATCA	0.672000														24			9		0	0	0.000443	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935735	34935735	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:34935735G>T	uc002hnb.3	+	7	1222	c.906G>T	c.(904-906)ttG>ttT	p.L302F	GGNBP2_uc002hna.3_Missense_Mutation_p.L302F|GGNBP2_uc002hnc.1_Missense_Mutation_p.L131F	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	302					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGACCTGCTTGGGAATTCATC	0.408000														126			8		0.000274275	0.000572066	0.004482	1	0
FLAD1	80308	broad.mit.edu	37	1	154961257	154961257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154961257C>T	uc001fgf.2	+	1	1450	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	FLAD1_uc001fgc.3_Missense_Mutation_p.S251L|FLAD1_uc001fgd.2_Missense_Mutation_p.S350L|FLAD1_uc001fge.2_Missense_Mutation_p.S253L|FLAD1_uc001fgg.2_Missense_Mutation_p.S253L|FLAD1_uc021paj.1_Missense_Mutation_p.S251L|FLAD1_uc001fgh.1_Missense_Mutation_p.S83L	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	350					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCAGGGATCGCTGGTCCCC	0.567000														24			30		0	0	0.003755	0	0
FAM135B	51059	broad.mit.edu	37	8	139164457	139164457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139164457G>A	uc003yuy.3	-	12	2432	c.2261C>T	c.(2260-2262)cCt>cTt	p.P754L	FAM135B_uc003yux.3_Missense_Mutation_p.P655L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.P316L|FAM135B_uc003yvb.3_Missense_Mutation_p.P316L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	754										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)			CTCCTCAAAAGGTAAAGAGCT	0.537000										HNSCC(54;0.14)				45			10		0	0	0.000673	0	0
OR6K6	128371	broad.mit.edu	37	1	158725497	158725497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158725497G>A	uc001fsw.1	+	0	892	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W297*(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AGTGTTTTGGGACACAGCAAT	0.443000														35			34		0	0	0.002836	0	0
KISS1R	84634	broad.mit.edu	37	19	917677	917677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:917677G>A	uc002lqk.4	+	0	336	c.175G>A	c.(175-177)Ggg>Agg	p.G59R		NM_032551	NP_115940	Q969F8	KISSR_HUMAN	Homo sapiens KISS1 receptor (KISS1R), mRNA.	59					behavior	integral to membrane|plasma membrane	neuropeptide receptor activity|protein binding			cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTGGTGGGGAACTCGCT	0.692000														6			6		0	0	0.001984	0	0
DPYD	1806	broad.mit.edu	37	1	98144734	98144734	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:98144734A>T	uc001drv.3	-	7	904	c.767T>A	c.(766-768)aTt>aAt	p.I256N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	256					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTACCGCAAATTATCTATAA	0.284000														15			4		0	0	0.000602	0	0
TMEM81	388730	broad.mit.edu	37	1	205053191	205053191	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:205053191G>A	uc001hbt.3	-	0	398	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	86	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCATCCCACAGATCCAGTTGG	0.502000														55			32		0	0	0.003271	0	0
IL17RC	84818	broad.mit.edu	37	3	9972588	9972588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9972588G>A	uc003bua.3	+	15	1779	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	CIDEC_uc003bto.3_Intron|IL17RC_uc003btz.3_Missense_Mutation_p.D450N|IL17RC_uc011atp.2_Missense_Mutation_p.D289N|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.D450N|IL17RC_uc010hcu.3_Missense_Mutation_p.D433N|IL17RC_uc003bub.3_Missense_Mutation_p.D435N|IL17RC_uc010hcv.3_Missense_Mutation_p.D418N|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.D435N|IL17RC_uc003bue.3_Missense_Mutation_p.D86N|CRELD1_uc003buh.3_5'Flank|CRELD1_uc003buf.3_5'Flank|CRELD1_uc003bug.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	521						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTATGGGACGATGACTTGGG	0.512000														81			39		0	0	0.003610	0	0
HSPA4L	22824	broad.mit.edu	37	4	128716986	128716986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:128716986G>A	uc003ifm.3	+	2	482	c.229G>A	c.(229-231)Gat>Aat	p.D77N	HSPA4L_uc010iny.1_Missense_Mutation_p.D77N|HSPA4L_uc011cgr.2_Missense_Mutation_p.D44N	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	77					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATCATTTGATGATCCCATTGT	0.398000														35			26		0	0	0.003330	0	0
FOLH1B	219595	broad.mit.edu	37	11	89403637	89403637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89403637G>A	uc001pda.3	+	3	701	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	59					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						AGGAGCAGTGGAACCAGGTAA	0.383000														52			31		0	0	0.001786	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556831	173556831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173556831G>A	uc001giz.2	-	4	919	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	166					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTCACAGAACGAAGAGGATCT	0.299000														59			19		0	0	0.000958	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152064	11152064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11152064G>A	uc010dxp.3	+	30	4612	c.4252G>A	c.(4252-4254)Gac>Aac	p.D1418N	SMARCA4_uc010dxo.3_Missense_Mutation_p.D1450N|SMARCA4_uc002mqf.4_Missense_Mutation_p.D1418N|SMARCA4_uc010dxq.3_Missense_Mutation_p.D1385N|SMARCA4_uc010dxr.3_Missense_Mutation_p.D1385N|SMARCA4_uc002mqj.4_Missense_Mutation_p.D1388N|SMARCA4_uc010dxs.3_Missense_Mutation_p.D1388N|SMARCA4_uc002mqh.4_Missense_Mutation_p.D508N	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1418					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGAGACAGCGACGCCGGCTC	0.632000			"""F, N, Mis"""		NSCLC									20			22		0	0	0.001523	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394418	138394418	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:138394418G>A	uc003vuf.3	-	19	2618	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L	ATP6V0A4_uc003vug.3_Silent_p.L794L|ATP6V0A4_uc003vuh.3_Silent_p.L794L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	794					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCATGATCAGAAGGATGGCT	0.537000														120			56		0	0	0.003610	0	0
C4B	721	broad.mit.edu	37	6	31996586	31996586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31996586C>T	uc011dpd.2	+	25	3398	c.3347C>T	c.(3346-3348)tCg>tTg	p.S1116L	C4B_uc011dpe.2_Missense_Mutation_p.S1116L	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1116					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTGACGGCTCGTTCCAGGAC	0.602000														28			27		0	0	0.001271	0	0
RNF175	285533	broad.mit.edu	37	4	154649372	154649372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154649372C>T	uc003int.3	-	3	761	c.388G>A	c.(388-390)Gga>Aga	p.G130R	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	130						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GGTGTCCTTCCTGAGAGGGGT	0.438000														28			18		0	0	0.000958	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038819	14038819	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14038819C>T	uc002mxo.2	+	22	2729	c.2430C>T	c.(2428-2430)gaC>gaT	p.D810D	CC2D1A_uc002mxp.2_Silent_p.D810D|CC2D1A_uc010dzh.2_Silent_p.D379D	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	810					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCATTGACCCTGTGCCGG	0.657000														47			25		0	0	0.003954	0	0
ZNF536	9745	broad.mit.edu	37	19	31039197	31039197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:31039197C>T	uc002nsu.1	+	3	2809	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	ZNF536_uc010edd.1_Missense_Mutation_p.P891S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACTGACCTTCCTTCCAAAAG	0.537000														57			40		0	0	0.001706	0	0
TEC	7006	broad.mit.edu	37	4	48169925	48169925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:48169925C>T	uc003gxz.3	-	6	632	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	181	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACGATTTCTTCACTATTATCT	0.383000														47			35		0	0	0.001287	0	0
TTN	7273	broad.mit.edu	37	2	179425410	179425410	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179425410G>A	uc021vsy.1	-	274	77970	c.77745C>T	c.(77743-77745)atC>atT	p.I25915I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I19610I|TTN_uc021vta.1_Silent_p.I19543I|TTN_uc021vtb.1_Silent_p.I19418I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26842	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I19543I(1)|p.I25913I(1)|p.I19418I(1)|p.I19610I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAATAGTCGATATCTGCAC	0.458000														28			15		0	0	0.003163	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717356	2717356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:2717356G>A	uc002lwf.3	-	1	607	c.449C>T	c.(448-450)tCg>tTg	p.S150L	DIRAS1_uc021umt.1_Missense_Mutation_p.S150L	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	150					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CATCTTGGCCGAGGTCTCCAT	0.632000														33			20		0	0	0.001216	0	0
TRPC4	7223	broad.mit.edu	37	13	38213191	38213191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38213191C>T	uc010abx.3	-	9	2447	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	TRPC4_uc010abv.3_Missense_Mutation_p.E313K|TRPC4_uc001uwt.3_Missense_Mutation_p.E733K|TRPC4_uc001uws.3_Missense_Mutation_p.E733K|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.E560K|TRPC4_uc010aby.3_Missense_Mutation_p.E668K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	733	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAGTTCTCTTCGGTCAGGCCT	0.403000														136			48		0	0	0.003610	0	0
LY86	9450	broad.mit.edu	37	6	6626593	6626593	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:6626593C>T	uc003mwy.1	+	2	325	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	97					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TTTTGAATTTCTCCTATCCCA	0.483000														38			21		0	0	0.001523	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764408	92764408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92764408G>A	uc003umh.1	-	4	2093	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	SAMD9L_uc003umj.1_Missense_Mutation_p.L293F|SAMD9L_uc003umi.1_Missense_Mutation_p.L293F|SAMD9L_uc010lfb.1_Missense_Mutation_p.L293F|SAMD9L_uc003umk.1_Missense_Mutation_p.L293F|SAMD9L_uc010lfc.1_Missense_Mutation_p.L293F|SAMD9L_uc010lfd.1_Missense_Mutation_p.L293F|SAMD9L_uc022ahh.1_Missense_Mutation_p.L293F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	293										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTGCAGAAGGACTTCCACA	0.353000														148			59		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203180	140203180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140203180C>T	uc003lhl.2	+	0	1820	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S607L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S607L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGGCTTTCGTATGAGCTG	0.652000														10			21		0	0	0.002299	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549448	46549448	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:46549448G>T	uc010tfw.1	-	10	2444	c.2438C>A	c.(2437-2439)cCa>cAa	p.P813Q	ZC3H13_uc001vas.1_Missense_Mutation_p.P813Q|ZC3H13_uc001vat.1_Missense_Mutation_p.P813Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	813	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCATCTCTTGGATTCCTATC	0.358000														184			7		0.00307968	0.00640016	0.003080	1	0
MBD3L1	85509	broad.mit.edu	37	19	8953931	8953931	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8953931A>G	uc002mko.2	+	0	663	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.K193Q(2)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CCGTCCTGAAAAACGCTAAGA	0.418000														18			13		0	0	0.003163	0	0
COL22A1	169044	broad.mit.edu	37	8	139628251	139628251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139628251C>T	uc003yvd.3	-	54	4364	c.3917G>A	c.(3916-3918)gGa>gAa	p.G1306E	COL22A1_uc011ljo.2_Missense_Mutation_p.G586E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1306	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		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)			TACATCTTTTCCTGGTAACCC	0.567000										HNSCC(7;0.00092)				24			14		0	0	0.004007	0	0
UTP14A	10813	broad.mit.edu	37	X	129045003	129045003	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:129045003C>T	uc004euz.3	+	4	348	c.258C>T	c.(256-258)gtC>gtT	p.V86V	UTP14A_uc011mup.2_Silent_p.V86V|UTP14A_uc011muq.2_Silent_p.V32V	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	86					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAAGCTGGTCCTTGCAGATC	0.428000														6			51		0	0	0.003610	0	0
TEX101	83639	broad.mit.edu	37	19	43922138	43922138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43922138G>A	uc002owk.3	+	7	1115	c.554G>A	c.(553-555)gGa>gAa	p.G185E	TEX101_uc010xwo.2_Missense_Mutation_p.G167E	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	167						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGCTATCAAGGAAAACTTGAG	0.473000														38			37		0	0	0.004878	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003943	27003943	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:27003943G>A	uc003acy.1	-	3	412	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	114	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TCTCCAGGATGAACATCTCCC	0.562000														35			15		0	0	0.003163	0	0
OR6K3	391114	broad.mit.edu	37	1	158687789	158687789	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158687789G>A	uc021pbn.1	-	0	117	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGTTATCAATGATAATAAAAG	0.363000														134			54		0	0	0.003610	0	0
THBS1	7057	broad.mit.edu	37	15	39880302	39880302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39880302G>A	uc001zkh.3	+	8	1533	c.1354G>A	c.(1354-1356)Ggt>Agt	p.G452S	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	452	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGTGACATGTGGTGATGGTGT	0.532000														46			29		0	0	0.002445	0	0
ANKRD36	375248	broad.mit.edu	37	2	97851184	97851184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97851184G>A	uc010yva.2	+	29	2222	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	ANKRD36_uc010fic.2_Missense_Mutation_p.D379N|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	660										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGCTACAAGTGACAAGACAGA	0.308000														4			5		0	0	0.001984	0	0
ACTL8	81569	broad.mit.edu	37	1	18152297	18152297	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:18152297C>T	uc001bat.3	+	2	600	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	128						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CATCGGTCCTCCTGGCCGACC	0.582000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			13		0	0	0.004990	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219161	1219161	+	Silent	SNP	C	T	T	rs150521851		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1219161C>T	uc003jbw.4	+	8	1373	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	439					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)			TGGAGGGCGTCGTTGTGCCCC	0.587000														14			8		0	0	0.003080	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57985150	57985150	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57985150C>T	uc001sou.3	+	0	209	c.78C>T	c.(76-78)tcC>tcT	p.S26S	PIP4K2C_uc001sot.3_Silent_p.S26S|PIP4K2C_uc010srs.2_Silent_p.S26S|PIP4K2C_uc010srt.2_Silent_p.S26S	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	26						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GCTTCGCCTCCAAGACCAAGA	0.657000														46			40		0	0	0.002522	0	0
PTPRR	5801	broad.mit.edu	37	12	71155373	71155373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:71155373G>A	uc001swi.2	-	3	919	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	PTPRR_uc010stq.2_Missense_Mutation_p.P57S	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	169					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGGTTTATGGGAGACACAAAC	0.328000														98			49		0	0	0.003610	0	0
RCSD1	92241	broad.mit.edu	37	1	167666671	167666671	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:167666671G>A	uc001gem.3	+	5	997	c.810G>A	c.(808-810)gaG>gaA	p.E270E	RCSD1_uc010pli.2_Silent_p.E240E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	270	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GTTCAGAGGAGGTGGACGGCC	0.632000														5			7		0	0	0.003080	0	0
COL6A3	1293	broad.mit.edu	37	2	238277429	238277429	+	Silent	SNP	G	A	A	rs147215386		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238277429G>A	uc002vwl.2	-	9	4962	c.4677C>T	c.(4675-4677)ttC>ttT	p.F1559F	COL6A3_uc002vwo.2_Silent_p.F1353F|COL6A3_uc010znj.1_Silent_p.F952F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1559	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCTGGGCGAACCTGGACA	0.572000														40			27		0	0	0.004656	0	0
NOS1AP	9722	broad.mit.edu	37	1	162124242	162124242	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162124242C>T	uc001gbv.2	+	1	540	c.153C>T	c.(151-153)atC>atT	p.I51I	NOS1AP_uc010pkr.1_Silent_p.I51I|NOS1AP_uc001gbw.2_Silent_p.I51I|NOS1AP_uc010pks.1_Non-coding_Transcript|MIR4654_uc021pdp.1_5'Flank	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	51	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGGTGGAGATCGTGGCTGCCA	0.602000														18			28		0	0	0.001786	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690332	84690332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:84690332G>A	uc002bjz.4	+	25	4668	c.4444G>A	c.(4444-4446)Gac>Aac	p.D1482N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1482N	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1482	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.D1482N(2)		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)			TAACATCCGGGACTGCCCAGC	0.483000														16			15		0	0	0.003163	0	0
STAB2	55576	broad.mit.edu	37	12	104046430	104046430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104046430G>A	uc001tjw.3	+	11	1540	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	452	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAATAACACAGACATGTTCTA	0.388000														31			21		0	0	0.001882	0	0
ZNF235	9310	broad.mit.edu	37	19	44792882	44792882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44792882G>A	uc002oza.4	-	4	809	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.H232Y	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTATTGCTATGAACTTTATCT	0.358000														39			34		0	0	0.002445	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671535	45671535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45671535G>A	uc002zeg.1	-	8	1224	c.740C>T	c.(739-741)cCc>cTc	p.P247L	DNMT3L_uc002zeh.1_Missense_Mutation_p.P247L	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	247					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.P246S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTGGCCCAGGGGAGGTGTGGC	0.642000														43			18		0	0	0.002780	0	0
ZNF248	57209	broad.mit.edu	37	10	38121875	38121875	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:38121875G>A	uc001izd.1	-	5	907	c.408C>T	c.(406-408)ccC>ccT	p.P136P	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.P136P	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATATTTTATAGGGATAATTTC	0.318000														45			30		0	0	0.001061	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833098	34833098	+	Silent	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:34833098T>G	uc002nvd.4	+	9	3118	c.2259T>G	c.(2257-2259)ccT>ccG	p.P753P		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	753										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTCGGGCACCTGGGAAATGGG	0.592000														78			58		0	0	0.003610	0	0
INADL	10207	broad.mit.edu	37	1	62582853	62582853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62582853C>T	uc001dab.3	+	36	4967	c.4853C>T	c.(4852-4854)tCc>tTc	p.S1618F	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.S432F|INADL_uc009wag.3_Missense_Mutation_p.S402F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1618					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CGAGCTGGTTCCTGGACCTCC	0.488000														36			24		0	0	0.001786	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144295164	144295164	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144295164C>T	uc003yxu.2	+	0	97	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	8					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGGGGCTGTCCTGCTTGCCCT	0.667000														6			19		0	0	0.001523	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420266	55420266	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55420266G>C	uc001sgp.4	+	1	421	c.43G>C	c.(43-45)Gtc>Ctc	p.V15L	NEUROD4_uc021qyr.1_Missense_Mutation_p.V15L	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	15					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGGAGAGCTAGTCAACACACC	0.433000														28			18		0	0	0.001882	0	0
FLNC	2318	broad.mit.edu	37	7	128480724	128480724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:128480724C>T	uc003vnz.4	+	9	1881	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	FLNC_uc003voa.4_Missense_Mutation_p.R558C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	558					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P557H(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCCATCCCTCGCAGGTGAGT	0.642000														35			72		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9058245	9058245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9058245G>A	uc002mkp.3	-	2	29405	c.29201C>T	c.(29200-29202)cCt>cTt	p.P9734L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9736	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCGTGAGAGGTAATGATGT	0.502000														20			14		0	0	0.003163	0	0
DACT3	147906	broad.mit.edu	37	19	47151937	47151937	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47151937G>A	uc010ekq.3	-	3	1766	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S		NM_145056	NP_659493	Q96B18	DACT3_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA.	564										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CTGAGTCGCTGGAGGCAGAGC	0.751000														22			16		0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61830531	61830531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61830531C>T	uc001jky.3	-	36	10446	c.10108G>A	c.(10108-10110)Gaa>Aaa	p.E3370K	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.	3370					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						AGGCCAAATTCATTATCTTTT	0.433000														59			47		0	0	0.003214	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103400114	103400114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:103400114G>A	uc001ymi.1	-	36	5303	c.5071C>T	c.(5071-5073)Ccc>Tcc	p.P1691S		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1691					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGGGAGTTGGGGCTCGGTGGG	0.662000														2			6		0	0	0.001984	0	0
KIF11	3832	broad.mit.edu	37	10	94373356	94373356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:94373356C>T	uc001kic.3	+	7	1320	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	338	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACAATTTCTCCTGCATCTCT	0.363000														160			94		0	0	0.003610	0	0
BTNL8	79908	broad.mit.edu	37	5	180326357	180326357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180326357C>T	uc003mmp.3	+	0	281	c.47C>T	c.(46-48)tCa>tTa	p.S16L	BTNL8_uc003mmq.3_Missense_Mutation_p.S16L|BTNL8_uc010jll.3_Missense_Mutation_p.S16L|BTNL8_uc011dhg.2_5'UTR|BTNL8_uc010jlm.3_Missense_Mutation_p.S16L	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	16						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGGGATCAGGTAAGACT	0.453000														25			80		0	0	0.003610	0	0
ZNF436	80818	broad.mit.edu	37	1	23688494	23688494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:23688494G>A	uc001bgt.3	-	2	1762	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	ZNF436_uc001bgu.3_Missense_Mutation_p.L461F	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGTTTAATAAGAGCTGAGCTC	0.393000														62			47		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409854	105409854	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105409854G>A	uc010axc.1	-	6	12054	c.11934C>T	c.(11932-11934)ttC>ttT	p.F3978F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.F3878F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3978						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)			CAGACACCCCGAACGACGGCA	0.617000														21			156		0	0	0.003610	0	0
SYCP1	6847	broad.mit.edu	37	1	115453027	115453027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115453027G>A	uc001efr.3	+	16	1539	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E444K|SYCP1_uc009wgw.3_Missense_Mutation_p.E444K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	444					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGAAAAGGAAACACTTTT	0.338000														46			30		0	0	0.001512	0	0
TNIK	23043	broad.mit.edu	37	3	170906561	170906561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170906561C>T	uc003fhh.2	-	6	914	c.569G>A	c.(568-570)gGa>gAa	p.G190E	TNIK_uc003fhi.2_Missense_Mutation_p.G190E|TNIK_uc003fhj.2_Missense_Mutation_p.G190E|TNIK_uc003fhk.2_Missense_Mutation_p.G190E|TNIK_uc003fhl.2_Missense_Mutation_p.G190E|TNIK_uc003fhm.2_Missense_Mutation_p.G190E|TNIK_uc003fhn.2_Missense_Mutation_p.G190E|TNIK_uc003fho.2_Missense_Mutation_p.G190E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTAGGGAGTTCCAATGAAAGT	0.408000														19			22		0	0	0.002780	0	0
FLNC	2318	broad.mit.edu	37	7	128497188	128497188	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:128497188C>T	uc003vnz.4	+	45	7787	c.7578C>T	c.(7576-7578)ttC>ttT	p.F2526F	FLNC_uc003voa.4_Silent_p.F2493F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2526	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CATCAGAGTTCATCGTGAACA	0.632000														61			82		0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	17088080	17088080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:17088080C>T	uc001ioo.3	-	23	3395	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1115	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1115K(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATTTTTCATAGCCTCCA	0.323000														23			21		0	0	0.004656	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175772	71175772	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:71175772C>T	uc003tvy.3	+	9	1527	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	WBSCR17_uc003tvz.3_Silent_p.F208F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F509L(2)		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)				AGGAAGGCTTCCTGCACTTGG	0.632000														40			26		0	0	0.001061	0	0
UNC45B	146862	broad.mit.edu	37	17	33503053	33503053	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33503053G>A	uc002hja.3	+	15	2128	c.2031_splice	c.e15+1	p.K677_splice	UNC45B_uc002hjb.3_Splice_Site_p.K675_splice|UNC45B_uc002hjc.3_Splice_Site_p.K675_splice|UNC45B_uc010cto.3_Splice_Site_p.K596_splice	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	677					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGGTGGCAAGGTAACTGGGC	0.527000														9			35		0	0	0.001951	0	0
FLNA	2316	broad.mit.edu	37	X	153590643	153590643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:153590643C>T	uc004fkk.2	-	17	2872	c.2623G>A	c.(2623-2625)Gtg>Atg	p.V875M	FLNA_uc010nuu.1_Missense_Mutation_p.V875M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	875					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGCCTTCACCTTACTGGCG	0.662000														1			25		0	0	0.003330	0	0
CHML	1122	broad.mit.edu	37	1	241797474	241797474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241797474G>A	uc001hzd.3	-	0	1759	c.1595C>T	c.(1594-1596)cCg>cTg	p.P532L	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	532					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P532L(2)|p.P532P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCAGTATACGGAGTGAATAA	0.383000														55			16		0	0	0.000743	0	0
SIM1	6492	broad.mit.edu	37	6	100841499	100841499	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:100841499G>A	uc003pqj.4	-	9	1901	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	SIM1_uc021zdg.1_Silent_p.F478F|SIM1_uc010kcu.3_Silent_p.F478F	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	478	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGTTCCCAGGAAGTACCTGC	0.612000														26			18		0	0	0.000958	0	0
PTPRC	5788	broad.mit.edu	37	1	198682180	198682180	+	Missense_Mutation	SNP	C	T	T	rs142046206		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198682180C>T	uc001gur.1	+	11	1444	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	PTPRC_uc001gut.1_Missense_Mutation_p.L261F|PTPRC_uc009wzf.1_Missense_Mutation_p.L310F|PTPRC_uc021pgy.1_Missense_Mutation_p.L376F|PTPRC_uc010ppg.1_Missense_Mutation_p.L358F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	422	Fibronectin type-III 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						TAATTTTACCCTCTGTTATAT	0.333000														99			34		0	0	0.004289	0	0
CUX2	23316	broad.mit.edu	37	12	111729321	111729321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111729321C>T	uc001tsa.2	+	4	555	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CUX2_uc001tsb.2_Missense_Mutation_p.S189L	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCCACACTTCGTGGAAGAGG	0.602000														12			10		0	0	0.000978	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421210	37421210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37421210G>A	uc021ppc.1	+	3	484	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E129K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						GAAAAGAAGTGAGCAAATTGT	0.294000														71			53		0	0	0.003610	0	0
NFAM1	150372	broad.mit.edu	37	22	42807586	42807586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:42807586G>A	uc003bcn.4	-	1	316	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	93	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						TGGCTTCTTAGGGCTCCTCTG	0.552000														34			31		0	0	0.003755	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277962	156277962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156277962C>T	uc003lwf.1	+	0	414	c.389C>T	c.(388-390)tCa>tTa	p.S130L						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		AGTGACCTCTCACCTGAAGAA	0.423000														10			10		0	0	0.000443	0	0
SYNE1	23345	broad.mit.edu	37	6	152523006	152523006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152523006G>A	uc021zhb.1	-	124	23321	c.23098C>T	c.(23098-23100)Ctc>Ttc	p.L7700F	SYNE1_uc003qos.4_Missense_Mutation_p.L2224F|SYNE1_uc003qot.4_Missense_Mutation_p.L7629F|SYNE1_uc003qou.4_Missense_Mutation_p.L7700F|SYNE1_uc003qor.4_Missense_Mutation_p.L600F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7700					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATCCGGGAGAGACTGCGAA	0.433000										HNSCC(10;0.0054)				61			26		0	0	0.004656	0	0
IL28RA	163702	broad.mit.edu	37	1	24507323	24507323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24507323G>A	uc001bis.3	-	1	107	c.80C>T	c.(79-81)cCc>cTc	p.P27L	IL28RA_uc001bir.3_Missense_Mutation_p.P27L|IL28RA_uc001bit.3_Missense_Mutation_p.P27L|IL28RA_uc001biu.3_Intron|IL28RA_uc001biv.3_Missense_Mutation_p.P27L	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	27	Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CACATTCTGGGGAGGGGCCAG	0.607000														24			20		0	0	0.001216	0	0
ALG13	79868	broad.mit.edu	37	X	110951451	110951451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110951451C>T	uc011msy.2	+	3	681	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ALG13_uc011msw.2_Missense_Mutation_p.P116S|ALG13_uc011msx.2_Missense_Mutation_p.P90S|ALG13_uc011msz.2_Missense_Mutation_p.P116S|ALG13_uc011mta.2_Missense_Mutation_p.P90S|ALG13_uc011mtb.2_Missense_Mutation_p.P90S	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	194					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						CGCTTTTTTTCCTCTCCCTCT	0.468000														6			23		0	0	0.001882	0	0
NRSN1	140767	broad.mit.edu	37	6	24145991	24145991	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24145991G>A	uc010jpq.1	+	3	642	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	135					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGTGCCTGCTGATGTCGGTGT	0.493000														24			26		0	0	0.002445	0	0
PERP	64065	broad.mit.edu	37	6	138413301	138413301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:138413301C>T	uc003qht.2	-	2	643	c.460G>A	c.(460-462)Ggc>Agc	p.G154S		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.	154					apoptosis|cell adhesion	Golgi apparatus|desmosome|integral to membrane|nucleus		p.G154S(2)		breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CACCCAAAGCCGTAGGCCCAG	0.532000														27			20		0	0	0.001882	0	0
METAP2	10988	broad.mit.edu	37	12	95879672	95879672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:95879672C>T	uc001tec.3	+	3	477	c.343C>T	c.(343-345)Cct>Tct	p.P115S	METAP2_uc010suv.2_Intron|METAP2_uc001tef.3_Missense_Mutation_p.P92S|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	115					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	TCAAACAGACCCTCCCTCAGT	0.368000														111			65		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70928360	70928360	+	Silent	SNP	G	A	A	rs78212832		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70928360G>A	uc002ezr.3	-	54	9388	c.9237C>T	c.(9235-9237)atC>atT	p.I3079I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3080										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)				ACCTGAACGCGATCTCATATT	0.522000														29			6		0	0	0.004656	0	0
ANK3	288	broad.mit.edu	37	10	61946557	61946557	+	Silent	SNP	G	A	A	rs146438080	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61946557G>A	uc001jky.3	-	16	2339	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	ANK3_uc010qih.2_Silent_p.S650S|ANK3_uc001jkz.4_Silent_p.S661S|ANK3_uc001jlb.1_Silent_p.S196S|ANK3_uc001jlc.1_Silent_p.S328S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	667					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						CGAGATGGACGGAAGCAATTC	0.522000														24			20		0	0	0.001216	0	0
ZNF735	730291	broad.mit.edu	37	7	63673555	63673555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:63673555G>A	uc011kdn.2	+	1	125	c.125G>A	c.(124-126)aGa>aAa	p.R42K		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AATTTATATAGAGATGTGATG	0.393000														17			12		0	0	0.001368	0	0
C1orf9	51430	broad.mit.edu	37	1	172525083	172525083	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:172525083C>T	uc001giq.4	+	3	679	c.363C>T	c.(361-363)tcC>tcT	p.S121S	C1orf9_uc010pmm.1_Silent_p.S121S|C1orf9_uc009wwd.3_Silent_p.S84S|C1orf9_uc010pmn.2_Silent_p.S84S|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	121					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		AAGAGTCTTCCAATGCAGTTG	0.378000														13			32		0	0	0.001786	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11846618	11846618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:11846618G>A	uc002dbk.3	-	20	2831	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F	ZC3H7A_uc002dbh.3_Missense_Mutation_p.S18F|ZC3H7A_uc002dbi.3_Missense_Mutation_p.S66F|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Missense_Mutation_p.S878F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	878						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GTGCTTCTCGGAGGAGATGTG	0.498000														32			25		0	0	0.004656	0	0
ATP2B1	490	broad.mit.edu	37	12	90018044	90018044	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:90018044G>A	uc001tbh.3	-	7	1441	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	ATP2B1_uc001tbg.3_Silent_p.F420F|ATP2B1_uc001tbf.3_Silent_p.F90F	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	420					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTCCAATAATGAAGAACTTCA	0.383000														33			18		0	0	0.001216	0	0
TBX21	30009	broad.mit.edu	37	17	45822634	45822635	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45822634_45822635CC>TT	uc002ilv.1	+	5	1721_1722	c.1510_1511CC>TT	c.(1510-1512)ccc>TTc	p.P504F		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	504					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCGTGTCCCCCTATCCTTCC	0.564000														6			38		0	0	0.004672	0	0
ZNF277	11179	broad.mit.edu	37	7	111927124	111927124	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:111927124C>T	uc003vge.2	+	1	417	c.288C>T	c.(286-288)ttC>ttT	p.F96F	ZNF277_uc003vgd.3_Silent_p.F96F|ZNF277_uc003vgf.2_Silent_p.F18F|ZNF277_uc003vgc.3_Silent_p.F96F	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	96						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTGCTGATTTCCAAAGGTAAG	0.398000														71			84		0	0	0.003610	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322094	37322094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37322094C>T	uc003aqa.4	+	3	483	c.266C>T	c.(265-267)cCc>cTc	p.P89L	CSF2RB_uc003aqc.4_Missense_Mutation_p.P89L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	89					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)	TGCCCCCATCCCCGCTGCGTG	0.602000														20			4		0	0	0.000248	0	0
FOSB	2354	broad.mit.edu	37	19	45976161	45976161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45976161C>T	uc002pbx.4	+	3	1500	c.908C>T	c.(907-909)tCg>tTg	p.S303L	ERCC1_uc002pbu.2_Intron|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekd.1_3'UTR|FOSB_uc010eke.3_Missense_Mutation_p.S228L|FOSB_uc002pby.4_Missense_Mutation_p.S267L|FOSB_uc010ekf.3_Missense_Mutation_p.S264L|FOSB_uc010ekg.3_Missense_Mutation_p.S160L|FOSB_uc002pca.4_Missense_Mutation_p.S254L	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	303					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TACACTTCTTCGTTTGTCCTC	0.617000														58			34		0	0	0.002445	0	0
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	T	T	rs35114212	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151164707C>T	uc011bod.2	-	3	3062	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1021					cell differentiation|multicellular organismal development|ossification	extracellular region		p.R1021Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473000														48			34		0	0	0.002836	0	0
CADPS	8618	broad.mit.edu	37	3	62502278	62502278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:62502278C>T	uc003dll.2	-	14	2794	c.2434G>A	c.(2434-2436)Gct>Act	p.A812T	CADPS_uc003dlk.1_Missense_Mutation_p.A316T|CADPS_uc003dlm.2_Missense_Mutation_p.A812T|CADPS_uc003dln.2_Missense_Mutation_p.A795T|CADPS_uc021wzv.1_Missense_Mutation_p.A865T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	812	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGAGAGTAGCTTTCAAAGCA	0.313000														57			43		0	0	0.003610	0	0
MAN1A1	4121	broad.mit.edu	37	6	119511042	119511042	+	Missense_Mutation	SNP	C	T	T	rs147835021		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:119511042C>T	uc003pym.1	-	9	1775	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	445					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAATGAGTCTCGATAGCCTGT	0.393000														15			8		0	0	0.000443	0	0
MIER2	54531	broad.mit.edu	37	19	311857	311857	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:311857G>A	uc002lok.1	-	9	981	c.972C>T	c.(970-972)atC>atT	p.I324I		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	324	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TGTTGGCCTGGATCAGGTGAA	0.622000														21			11		0	0	0.000978	0	0
SAMD9	54809	broad.mit.edu	37	7	92734772	92734772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92734772C>T	uc003umf.3	-	2	909	c.639G>A	c.(637-639)atG>atA	p.M213I	SAMD9_uc003umg.3_Missense_Mutation_p.M213I|SAMD9_uc022ahg.1_Missense_Mutation_p.M213I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	213						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTAAATTTCATCTTGACAT	0.413000														118			49		0	0	0.003610	0	0
PSG4	5672	broad.mit.edu	37	19	43699171	43699171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43699171C>T	uc002ovy.3	-	3	1066	c.964G>A	c.(964-966)Gac>Aac	p.D322N	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.D229N	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	322	Ig-like C2-type 2.				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)				GTGACTGGGTCACTGCGGATG	0.488000														63			34		0	0	0.003271	0	0
OC90	729330	broad.mit.edu	37	8	133036790	133036790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133036790C>T	uc003ytg.2	-	12	1372	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	OC90_uc011lix.1_Missense_Mutation_p.A458T	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	474					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AACCTCTTGGCTCTGCCGAGG	0.612000														12			24		0	0	0.002780	0	0
ODZ3	55714	broad.mit.edu	37	4	183674674	183674674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183674674G>A	uc003ivd.1	+	19	4009	c.3934G>A	c.(3934-3936)Gga>Aga	p.G1312R	ODZ3_uc003ive.1_Missense_Mutation_p.G725R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1312					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)		TGACCAAAATGGAATCATATC	0.383000														37			24		0	0	0.002299	0	0
EDNRA	1909	broad.mit.edu	37	4	148406860	148406860	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:148406860C>T	uc003iky.3	+	1	557	c.27C>T	c.(25-27)tcC>tcT	p.S9S	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.S9S|EDNRA_uc010ipe.1_Silent_p.S9S|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	9					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCAGGGCATCCTTTTGGCTGG	0.418000														27			36		0	0	0.002852	0	0
DHRS9	10170	broad.mit.edu	37	2	169938037	169938037	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:169938037C>T	uc010zdc.2	+	1	238	c.126C>T	c.(124-126)caC>caT	p.H42H	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTCAGGACACCATCTTCTTG	0.378000														15			9		0	0	0.004482	0	0
C1orf127	148345	broad.mit.edu	37	1	11008286	11008286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11008286C>T	uc010oao.2	-	11	1906	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	C1orf127_uc001ars.2_Missense_Mutation_p.G471R|C1orf127_uc001arr.2_Missense_Mutation_p.G479R	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	487										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCCTGGCCCCCTCCCTGGGG	0.642000														37			32		0	0	0.002836	0	0
EVPL	2125	broad.mit.edu	37	17	74006213	74006214	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74006213_74006214CC>TT	uc010wss.1	-	21	3366_3367	c.3138_3139GG>AA	c.(3136-3141)agggac>agAAac	p.D1047N	EVPL_uc002jqi.2_Missense_Mutation_p.D1025N|EVPL_uc010wst.1_Missense_Mutation_p.D495N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1025	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCGGGGTCCCTCTCCACCT	0.644000														14			48		0	0	0.004672	0	0
BANK1	55024	broad.mit.edu	37	4	102951356	102951356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:102951356C>T	uc003hvy.4	+	9	2108	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S	BANK1_uc003hvx.4_Missense_Mutation_p.P597S|BANK1_uc010ill.3_Missense_Mutation_p.P479S|BANK1_uc003hvz.4_Missense_Mutation_p.P582S	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	612					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAATAGACCTCCTGCCCCCAC	0.378000														38			42		0	0	0.002852	0	0
LRP1B	53353	broad.mit.edu	37	2	142237992	142237992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:142237992C>T	uc002tvj.1	-	2	1288	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	106	LDL-receptor class A 2.				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)		TCGTCATACCCATCTGGGCAG	0.403000										TSP Lung(27;0.18)				18			14		0	0	0.004007	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993405	143993405	+	Silent	SNP	C	T	T	rs141179680		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:143993405C>T	uc003yxk.1	-	8	1506	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	501					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ACTAGTTAATCGCTCTGAAAG	0.557000									Familial Hyperaldosteronism type I					56			23		0	0	0.002780	0	0
TNXB	7148	broad.mit.edu	37	6	32039786	32039786	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32039786G>A	uc003nzl.2	-	12	5173	c.4971C>T	c.(4969-4971)gtC>gtT	p.V1657V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1739					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						CCTCCACAGAGACTGGGCTGC	0.592000														55			34		0	0	0.001706	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197648	44197648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44197648C>T	uc003oww.1	+	5	748	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	SLC29A1_uc011dvp.1_Missense_Mutation_p.P126S|SLC29A1_uc003owu.1_Missense_Mutation_p.P107S|SLC29A1_uc003owv.1_Missense_Mutation_p.P107S|SLC29A1_uc011dvq.1_Missense_Mutation_p.P149S|SLC29A1_uc003owx.1_Missense_Mutation_p.P107S|SLC29A1_uc003owy.1_Missense_Mutation_p.P107S|SLC29A1_uc003owz.1_Missense_Mutation_p.P107S	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	107					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CGGCAGGATCCCCCAGTCCGT	0.637000														16			17		0	0	0.004007	0	0
GABRG2	2566	broad.mit.edu	37	5	161580307	161580307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:161580307G>A	uc010jjc.3	+	10	1839	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	GABRG2_uc003lyy.4_Missense_Mutation_p.R454Q|GABRG2_uc003lyz.4_Missense_Mutation_p.R446Q|GABRG2_uc011dej.2_Missense_Mutation_p.R351Q	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	446					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCCTATGCTCGGATCTTCTTC	0.458000														24			82		0	0	0.003610	0	0
ENPEP	2028	broad.mit.edu	37	4	111397853	111397853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:111397853G>A	uc003iab.4	+	0	625	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	95					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)	TCGACTGCCGGACTTCGTCAA	0.612000														38			15		0	0	0.004990	0	0
OR2T10	127069	broad.mit.edu	37	1	248756281	248756281	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248756281G>A	uc010pzn.2	-	0	789	c.789C>T	c.(787-789)agC>agT	p.S263S		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TTTGGTAGGAGCTGGGGAGCA	0.448000														27			12		0	0	0.000978	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074200	46074200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46074200C>T	uc002zfs.1	-	0	377	c.332G>A	c.(331-333)gGc>gAc	p.G111D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	111						keratin filament				lung(4)|ovary(1)|prostate(1)	6						TGCTCAGCAGCCAGTGGGGGT	0.622000														23			13		0	0	0.004990	0	0
FLT3	2322	broad.mit.edu	37	13	28578200	28578200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:28578200C>T	uc001urw.3	-	23	3053	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E950K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	991					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACGAATCTTCGACCTGAGCC	0.453000			"""Mis, O"""		"""AML, ALL"""									30			24		0	0	0.004656	0	0
OR4A16	81327	broad.mit.edu	37	11	55111121	55111121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55111121G>A	uc010rie.2	+	0	445	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCATGATTGGAGGTTTTGT	0.458000														59			39		0	0	0.001287	0	0
TTN	7273	broad.mit.edu	37	2	179588212	179588212	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179588212C>T	uc021vsy.1	-	70	18108	c.17883G>A	c.(17881-17883)ggG>ggA	p.G5961G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2622G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6888	Ig-like 40.						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)			AGGTGTATTCCCCACTCTGAG	0.433000														15			16		0	0	0.004007	0	0
BABAM1	29086	broad.mit.edu	37	19	17387376	17387376	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17387376C>T	uc002nfu.3	+	6	760	c.642C>T	c.(640-642)atC>atT	p.I214I	BABAM1_uc010xpl.1_Silent_p.I139I|BABAM1_uc002nfv.3_Silent_p.I214I|BABAM1_uc010ean.2_Non-coding_Transcript|BABAM1_uc002nfw.3_Silent_p.I214I	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	214	VWFA-like.				G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TCCGCACCATCCTTGTCTACA	0.617000														4			4		0	0	0.000248	0	0
C1orf173	127254	broad.mit.edu	37	1	75038101	75038102	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:75038101_75038102AG>TA	uc001dgg.3	-	13	3511_3512	c.3292_3293CT>TA	c.(3292-3294)ctt>TAt	p.L1098Y		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1098	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						TTCCGCTTTAAGTTTTTGCTCT	0.446000														90			65		0	0	0.004672	0	0
MADCAM1	8174	broad.mit.edu	37	19	501732	501732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:501732C>T	uc002los.3	+	3	741	c.731C>T	c.(730-732)aCc>aTc	p.T244I	MADCAM1_uc002lot.3_Intron|MADCAM1_uc010drq.3_Intron	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	244	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGACACCACCTCCCCGGAG	0.682000														11			7		0	0	0.000443	0	0
SCN9A	6335	broad.mit.edu	37	2	167129007	167129007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167129007G>A	uc010fpl.3	-	16	3561	c.3220C>T	c.(3220-3222)Ctc>Ttc	p.L1074F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1085						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTCACTGTGAGGCTGGGATTG	0.423000														28			17		0	0	0.004007	0	0
ADH7	131	broad.mit.edu	37	4	100349013	100349013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100349013C>T	uc003huv.2	-	4	758	c.517G>A	c.(517-519)Gat>Aat	p.D173N	ADH7_uc021xqj.1_Missense_Mutation_p.D181N	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	173					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCTGCATCATCAATCTTAGCA	0.458000														66			26		0	0	0.001061	0	0
TOPBP1	11073	broad.mit.edu	37	3	133331239	133331239	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:133331239G>A	uc003eps.3	-	23	4161	c.4029C>T	c.(4027-4029)ttC>ttT	p.F1343F		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1343	BRCT 7.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACACCTGCACGAAGTGTCCAG	0.493000								Other conserved DNA damage response genes						23			12		0	0	0.001855	0	0
QSER1	79832	broad.mit.edu	37	11	32979608	32979608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:32979608C>T	uc001mty.3	+	7	4825	c.4558C>T	c.(4558-4560)Cat>Tat	p.H1520Y	QSER1_uc001mtz.1_Missense_Mutation_p.H1281Y|QSER1_uc001mua.3_Missense_Mutation_p.H1025Y	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1520										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCTGAGATCCATACTAGTAG	0.418000														8			9		0	0	0.000978	0	0
CDH10	1008	broad.mit.edu	37	5	24491695	24491695	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:24491695G>A	uc003jgr.2	-	10	2372	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	622					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I621I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCAGTAGAATGATGATGCAGA	0.488000										HNSCC(23;0.051)				43			35		0	0	0.004878	0	0
IGSF10	285313	broad.mit.edu	37	3	151163025	151163025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151163025C>T	uc011bod.2	-	3	4744	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1582					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)			TCAGCAATTTCTGAGTATGGT	0.433000														64			58		0	0	0.003610	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000723	204000724	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:204000723_204000724GG>TT	uc002uzt.3	+	26	4383_4384	c.4050_4051GG>TT	c.(4048-4053)gtggga>gtTTga	p.G1351*	NBEAL1_uc021vvj.1_Nonsense_Mutation_p.G54*	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1351							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATAGCTCTGTGGGAGAATTGTC	0.411000														441			11		0	0	0.004672	0	0
KRT6C	286887	broad.mit.edu	37	12	52865510	52865510	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52865510C>T	uc001sal.4	-	2	810	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	254	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGATTTCATCCTCATATCTAC	0.423000														70			39		0	0	0.003610	0	0
MAEA	10296	broad.mit.edu	37	4	1309241	1309241	+	Silent	SNP	C	T	T	rs141399202	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:1309241C>T	uc003gda.3	+	2	339	c.309C>T	c.(307-309)atC>atT	p.I103I	MAEA_uc010ibs.1_Silent_p.I103I|MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.I103I|MAEA_uc011bvb.2_Intron|MAEA_uc003gdc.3_Silent_p.I103I|MAEA_uc011bvc.2_Silent_p.I102I|MAEA_uc011bvd.2_Silent_p.I55I|MAEA_uc010ibt.3_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	103	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AGCGCCGGATCGAGCACCTCA	0.642000														33			27		0	0	0.001786	0	0
KIAA0430	9665	broad.mit.edu	37	16	15710936	15710936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15710936G>A	uc002ddr.3	-	14	3257	c.3050C>T	c.(3049-3051)aCc>aTc	p.T1017I	KIAA0430_uc002ddq.3_Missense_Mutation_p.T851I|KIAA0430_uc010uzv.2_Missense_Mutation_p.T1014I|KIAA0430_uc010uzw.2_Missense_Mutation_p.T1017I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1016						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCCCTCGTGGGTCTGGAGAAG	0.453000														30			27		0	0	0.001061	0	0
DNAH10	196385	broad.mit.edu	37	12	124298163	124298163	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124298163C>T	uc001uft.4	+	18	3268	c.3243C>T	c.(3241-3243)ctC>ctT	p.L1081L	DNAH10_uc010tav.1_Silent_p.L623L|DNAH10_uc010taw.1_Silent_p.L566L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1081	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAGGAGCTCTATAATCTCC	0.433000														28			19		0	0	0.001216	0	0
DRD5	1816	broad.mit.edu	37	4	9784938	9784938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:9784938G>A	uc003gmb.4	+	0	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	429					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D428D(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACAACGACGAGGAGGAGGG	0.577000														31			23		0	0	0.004656	0	0
PDYN	5173	broad.mit.edu	37	20	1961277	1961277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:1961277C>T	uc010gaj.3	-	2	699	c.457G>A	c.(457-459)Gat>Aat	p.D153N	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.D153N|PDYN_uc021vzt.1_Missense_Mutation_p.D153N|PDYN_uc021vzu.1_Missense_Mutation_p.D153N|PDYN_uc002wfv.3_Missense_Mutation_p.D153N	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	153					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGCACCATCGTTCAGCTGG	0.572000														41			6		0	0	0.001984	0	0
LRP10	26020	broad.mit.edu	37	14	23346335	23346335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23346335C>T	uc001whd.3	+	6	2294	c.1741C>T	c.(1741-1743)Cag>Tag	p.Q581*	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	581					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCAGATCCCAGGTCACACC	0.692000														20			15		0	0	0.000958	0	0
TRIM71	131405	broad.mit.edu	37	3	32932809	32932809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:32932809G>A	uc003cff.3	+	3	2176	c.2113G>A	c.(2113-2115)Gat>Aat	p.D705N		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	705					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTACCCTTGGGATGTGGCGGT	0.517000														22			10		0	0	0.000673	0	0
OR8K5	219453	broad.mit.edu	37	11	55927440	55927440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55927440C>T	uc010rja.2	-	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GGTCATAGGCCATGGCTGACA	0.413000														53			33		0	0	0.002836	0	0
ARAP3	64411	broad.mit.edu	37	5	141059732	141059732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:141059732G>A	uc003llm.3	-	1	400	c.322C>T	c.(322-324)Cct>Tct	p.P108S	ARAP3_uc003lln.3_Missense_Mutation_p.P30S|ARAP3_uc003llo.1_Missense_Mutation_p.P108S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	108	Pro-rich.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTGGTGGCAGGGCCACTGAGT	0.672000														9			26		0	0	0.001061	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764320	109764320	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:109764320G>A	uc004eos.1	+	0		c.781G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		GAATTAAAGCGATGCTAACGC	0.408000														6			18		0	0	0.000958	0	0
SZT2	23334	broad.mit.edu	37	1	43903468	43903468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43903468C>T	uc001cjk.2	+	44	6316	c.3706C>T	c.(3706-3708)Cgt>Tgt	p.R1236C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2135						peroxisome		p.P1235S(1)		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						GTAGGGTCCTCGTTCTCCCTT	0.567000														52			47		0	0	0.003610	0	0
KLB	152831	broad.mit.edu	37	4	39448354	39448354	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39448354T>C	uc003gua.3	+	3	2105	c.2008T>C	c.(2008-2010)Ttc>Ctc	p.F670L	KLB_uc011byj.2_Missense_Mutation_p.F661L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	670	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGCCGAGGCCTTCCAGGCCTA	0.627000														22			9		0	0	0.000443	0	0
GPR98	84059	broad.mit.edu	37	5	90087065	90087065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90087065C>T	uc003kju.3	+	69	14515	c.14419C>T	c.(14419-14421)Cat>Tat	p.H4807Y	GPR98_uc003kjt.3_Missense_Mutation_p.H2513Y|GPR98_uc003kjw.3_Missense_Mutation_p.H468Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4807					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)		ATCATCGGATCATAAAGAACA	0.443000														6			8		0	0	0.000443	0	0
WFDC9	259240	broad.mit.edu	37	20	44237334	44237334	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44237334C>T	uc002xoy.3	-	3	425	c.207G>A	c.(205-207)tgG>tgA	p.W69*		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	69						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CACAGTAGGTCCAGCAGCATG	0.473000														131			30		0	0	0.003271	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088253	17088253	+	Silent	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17088253G>C	uc002nfb.3	-	14	1856	c.1824C>G	c.(1822-1824)gtC>gtG	p.V608V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	561						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGACGTAGAAGACCAGCAGGC	0.597000														37			26		0	0	0.001271	0	0
KLHL26	55295	broad.mit.edu	37	19	18779140	18779140	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18779140C>T	uc002njz.1	+	2	960	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	311										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCTCGCTCGTCACCTTCG	0.677000														22			15		0	0	0.004007	0	0
OR13G1	441933	broad.mit.edu	37	1	247835855	247835855	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247835855C>T	uc001idi.1	-	0	489	c.489G>A	c.(487-489)ttG>ttA	p.L163L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACAGAAAGTCAACCTCATGA	0.473000														32			33		0	0	0.003271	0	0
NID1	4811	broad.mit.edu	37	1	236189432	236189432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:236189432G>A	uc001hxo.3	-	7	1850	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	NID1_uc009xgd.3_Missense_Mutation_p.S583F	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	583	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGTGGAGGAGGAAGTGATCAC	0.567000														31			18		0	0	0.000958	0	0
SEMG2	6407	broad.mit.edu	37	20	43851300	43851300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:43851300G>A	uc010ggz.3	+	1	1084	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	SEMG2_uc002xnk.3_Missense_Mutation_p.E343K|SEMG2_uc002xnl.3_Missense_Mutation_p.E343K	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	343	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGCCATAAGGAAAATAAAAT	0.378000														26			50		0	0	0.003610	0	0
EPB42	2038	broad.mit.edu	37	15	43500525	43500525	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:43500525G>A	uc001zrb.4	-	7	1368	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Silent_p.F326F|EPB42_uc010udm.2_Silent_p.F248F	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	326					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAGTCTGGAAGATCCTGA	0.512000														18			11		0	0	0.001855	0	0
TAF1	6872	broad.mit.edu	37	X	70607247	70607247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:70607247C>T	uc004dzu.4	+	14	2411	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P808L|TAF1_uc004dzv.4_5'Flank	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	787					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity	p.P787S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGCAGTGTCCCTTGTTTGAA	0.443000														5			31		0	0	0.002836	0	0
USH1C	10083	broad.mit.edu	37	11	17542432	17542432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17542432G>A	uc001mnf.3	-	13	1304	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	USH1C_uc001mne.3_Missense_Mutation_p.L399F|USH1C_uc009yhb.3_Missense_Mutation_p.L380F|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.L363F	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	399					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						GGCTTGCGAAGGGGTACTGGG	0.522000														89			82		0	0	0.003610	0	0
ATG9A	79065	broad.mit.edu	37	2	220088932	220088932	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220088932G>C	uc002vke.1	-	7	1347	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.I387M	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	387					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACAGCCAGGATGGAGCCAG	0.537000														87			59		0	0	0.003610	0	0
GLRA2	2742	broad.mit.edu	37	X	14548226	14548226	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:14548226T>A	uc010neq.3	+	0	807	c.47T>A	c.(46-48)tTc>tAc	p.F16Y	GLRA2_uc004cwe.4_Missense_Mutation_p.F16Y|GLRA2_uc011mio.2_5'UTR|GLRA2_uc010nep.3_Missense_Mutation_p.F16Y|GLRA2_uc011mip.2_5'Flank	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	16					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTTGCATTTTTCTTAGAGACA	0.368000														8			18		0	0	0.003330	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723328	58723328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58723328G>A	uc001nnh.2	+	6	880	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	GLYATL1_uc001nnf.3_Missense_Mutation_p.R246Q|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R246Q|GLYATL1_uc001nnj.2_Missense_Mutation_p.R246Q	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	246						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACATGGCACGAGTGATGGTG	0.478000														20			14		0	0	0.002450	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350369	76350369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:76350369G>A	uc002fex.1	+	0	293	c.154G>A	c.(154-156)Gag>Aag	p.E52K	CNTNAP4_uc002feu.1_Missense_Mutation_p.E48K|CNTNAP4_uc002fev.1_5'UTR|CNTNAP4_uc010chb.1_Missense_Mutation_p.E24K|CNTNAP4_uc002few.2_Missense_Mutation_p.E24K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	49	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGTTCTTCCGAGCTCTCCAG	0.488000														23			17		0	0	0.001523	0	0
C3orf79	152118	broad.mit.edu	37	3	153202397	153202397	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:153202397A>T	uc003ezt.3	+	0	114	c.52A>T	c.(52-54)Aca>Tca	p.T18S		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	Homo sapiens chromosome 3 open reading frame 79 (C3orf79), mRNA.	18										endometrium(1)|large_intestine(3)	4						TGCATTTACTACATTTCCATG	0.428000														106			64		0	0	0.003610	0	0
SOCS6	9306	broad.mit.edu	37	18	67992221	67992221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:67992221C>T	uc002lkr.1	+	1	633	c.317C>T	c.(316-318)tCc>tTc	p.S106F	SOCS6_uc010dqq.2_Missense_Mutation_p.S106F|SOCS6_uc021ulj.1_Missense_Mutation_p.S106F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	106	Poly-Ser.				JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ACCTTCTCCTCCTCCTCAGCA	0.582000														31			27		0	0	0.005443	0	0
TCF4	6925	broad.mit.edu	37	18	52921913	52921913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52921913G>A	uc002lga.3	-	15	1531	c.1471C>T	c.(1471-1473)Cgt>Tgt	p.R491C	TCF4_uc021ukg.1_Missense_Mutation_p.R229C|TCF4_uc021ukh.1_Missense_Mutation_p.R229C|TCF4_uc002lfw.4_Missense_Mutation_p.R229C|TCF4_uc010xdu.1_Missense_Mutation_p.R259C|TCF4_uc010xdv.1_Missense_Mutation_p.R259C|TCF4_uc021uki.1_Missense_Mutation_p.R318C|TCF4_uc002lfx.2_Missense_Mutation_p.R318C|TCF4_uc010xdw.1_Missense_Mutation_p.R259C|TCF4_uc002lfy.2_Missense_Mutation_p.R347C|TCF4_uc010xdx.1_Missense_Mutation_p.R365C|TCF4_uc021ukj.1_Missense_Mutation_p.R329C|TCF4_uc021ukk.1_Missense_Mutation_p.R329C|TCF4_uc021ukl.1_Missense_Mutation_p.R386C|TCF4_uc002lfz.2_Missense_Mutation_p.R389C|TCF4_uc010dph.1_Missense_Mutation_p.R389C|TCF4_uc010dpi.3_Missense_Mutation_p.R395C|TCF4_uc010xdy.1_Missense_Mutation_p.R365C	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	389					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTTTCTAAACGATCTTCAATT	0.403000														3			7		0	0	0.004482	0	0
OR1L6	392390	broad.mit.edu	37	9	125512228	125512228	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:125512228C>T	uc022bna.1	+	0	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TCTTCCTCATCATGTACCTGC	0.532000														26			82		0	0	0.003610	0	0
ASTN1	460	broad.mit.edu	37	1	176905403	176905403	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176905403C>T	uc001glc.3	-	15	2694	c.2482_splice	c.e15+1	p.A828_splice	ASTN1_uc001glb.1_Splice_Site_p.A828_splice|ASTN1_uc001gld.1_Splice_Site_p.A828_splice|ASTN1_uc009wwx.1_Silent_p.Q827Q	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	836					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGTGCTCACCCTGAGAGATGG	0.542000														38			11		0	0	0.000978	0	0
YES1	7525	broad.mit.edu	37	18	743027	743027	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:743027G>A	uc002kky.3	-	7	1172	c.951C>T	c.(949-951)ttC>ttT	p.F317F	YES1_uc002kkz.3_Silent_p.F317F	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	317	Protein kinase.				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTTCTTGAAGGAAAGCTTCTG	0.323000														54			53		0	0	0.003610	0	0
NACC1	112939	broad.mit.edu	37	19	13246834	13246834	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13246834C>T	uc002mwm.3	+	1	981	c.813C>T	c.(811-813)acC>acT	p.T271T		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	271					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCGCCTACACCAGCGACAGCC	0.657000														24			12		0	0	0.001855	0	0
DCDC5	100506627	broad.mit.edu	37	11	30946894	30946894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30946894C>T	uc009yjk.1	-	10	1372	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E94K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	66					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GCAAATATTTCCTTCCCCTTT	0.348000														99			58		0	0	0.003610	0	0
CFB	629	broad.mit.edu	37	6	31915258	31915258	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31915258G>A	uc003nyj.4	+	3	896	c.618G>A	c.(616-618)caG>caA	p.Q206Q	CFB_uc011dor.2_Silent_p.Q708Q|CFB_uc003nyi.2_Silent_p.Q206Q	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	206	Sushi 3.				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						GAACGTGTCAGGAAGGTGGCT	0.617000														126			73		0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	120999045	120999045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:120999045G>A	uc010rzo.2	+	7	2359	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	787	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGGGGCTTCGGAAGTCAAGGT	0.592000														18			9		0	0	0.000443	0	0
PRPF6	24148	broad.mit.edu	37	20	62614414	62614414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62614414C>T	uc002yho.3	+	1	254	c.86C>T	c.(85-87)aCc>aTc	p.T29I	PRPF6_uc002yhp.3_Missense_Mutation_p.T29I	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	29					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ACTGGCTTCACCACGCGGTCA	0.562000														27			8		0	0	0.003080	0	0
DCDC5	100506627	broad.mit.edu	37	11	30928197	30928197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30928197C>T	uc009yjk.1	-	17	2407	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E439K|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	411					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AGTCCTTTCTCTGTTCTCATG	0.453000														21			12		0	0	0.001855	0	0
CNGA2	1260	broad.mit.edu	37	X	150911752	150911752	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:150911752C>T	uc004fey.1	+	6	1001	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	259					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTGAGTTCTTTGACCGGA	0.522000														7			53		0	0	0.003610	0	0
TXNDC8	255220	broad.mit.edu	37	9	113096597	113096597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:113096597C>T	uc004bes.3	-	1	77	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	TXNDC8_uc011lwl.2_Missense_Mutation_p.E10K	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	Homo sapiens thioredoxin domain containing 8 (spermatozoa) (TXNDC8), mRNA.	10	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTTTTAAATTCATTCTGAAAA	0.358000														6			29		0	0	0.001271	0	0
NME8	51314	broad.mit.edu	37	7	37907457	37907457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37907457G>A	uc003tfn.3	+	10	1147	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	259					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.E259K(1)									ACCTGAGGTCGAAGCCCAGGT	0.448000														13			11		0	0	0.000978	0	0
RLN3	117579	broad.mit.edu	37	19	14141608	14141608	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14141608C>T	uc002mxw.1	+	1	277	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	IL27RA_uc002mxx.3_5'Flank|RLN3_uc010dzj.1_3'UTR	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	93						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GTGGCTGGCCCTGACCAAGTC	0.612000														34			20		0	0	0.001523	0	0
LRIT1	26103	broad.mit.edu	37	10	85997366	85997366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:85997366C>T	uc001kcz.1	-	1	221	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	67						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCGTCCGCTCCAGGCGCAGT	0.667000														32			23		0	0	0.003330	0	0
ADCY1	107	broad.mit.edu	37	7	45750248	45750248	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45750248C>T	uc003tne.4	+	18	3072	c.3054C>T	c.(3052-3054)atC>atT	p.I1018I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1018					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)	AGGGCAGAATCCAGGTCAGTT	0.577000														13			12		0	0	0.001855	0	0
CR1	1378	broad.mit.edu	37	1	207793385	207793385	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207793385C>T	uc001hfy.3	+	34	6017	c.5877C>T	c.(5875-5877)gaC>gaT	p.D1959D	CR1_uc001hfx.3_Silent_p.D2409D|CR1_uc021pij.1_Silent_p.D1959D	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1959	Sushi 30.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAGATGGGACCCTCCTCTGG	0.478000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			15		0	0	0.004007	0	0
CADM2	253559	broad.mit.edu	37	3	85932485	85932485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:85932485G>A	uc003dql.3	+	2	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	CADM2_uc003dqj.3_Missense_Mutation_p.E86K|CADM2_uc003dqk.3_Missense_Mutation_p.E95K|CADM2_uc003dqm.2_5'UTR|CADM2_uc021xay.1_5'UTR|CADM2_uc021xaz.1_5'UTR|CADM2_uc021xba.1_5'UTR	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	86	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTCCTGGCATGAATTGAGTAT	0.393000														19			9		0	0	0.000443	0	0
A4GNT	51146	broad.mit.edu	37	3	137849834	137849835	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:137849834_137849835CC>AA	uc003ers.2	-	1	466_467	c.264_265GG>TT	c.(262-267)aagggt>aaTTgt	p.88_89KG>NC		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	88					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TCAGTAAGACCCTTCATAAAGA	0.475000														391			11		0	0	0.004672	0	0
TGM3	7053	broad.mit.edu	37	20	2293571	2293571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2293571C>T	uc002wfx.4	+	4	665	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	190					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)	CAGCATCTGCCTCTCAATCTT	0.473000														34			42		0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179714832	179714832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179714832G>A	uc002une.2	-	20	3419	c.3301C>T	c.(3301-3303)Ctt>Ttt	p.L1101F	CCDC141_uc002unf.1_Missense_Mutation_p.L580F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	526							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACAGATTCAAGAACCTCTTTG	0.338000														46			39		0	0	0.002852	0	0
GRK7	131890	broad.mit.edu	37	3	141499482	141499482	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141499482G>A	uc011bnd.2	+	1	963	c.879G>A	c.(877-879)gtG>gtA	p.V293V		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	293	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R292W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAGCCGGGTGATCTTTTACT	0.557000														23			21		0	0	0.002299	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154241	248154241	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248154241C>T	uc001idv.1	+	0	673	c.429C>T	c.(427-429)gtC>gtT	p.V143V	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						TCCTTGCTGTCTACCACATGC	0.483000														49			27		0	0	0.001061	0	0
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	C	C	rs111331725	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:29628261T>C	uc010ztl.1	+	2	205	c.173T>C	c.(172-174)tTt>tCt	p.F58S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.F10S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363000														56			12		0	0	0.001855	0	0
SOCS3	9021	broad.mit.edu	37	17	76354956	76354956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76354956G>A	uc002jvl.2	-	1	637	c.221C>T	c.(220-222)tCg>tTg	p.S74L	SOCS3_uc021uee.1_Missense_Mutation_p.S74L	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	74	SH2.				JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GCGCTGGTCCGAGCTGTCGCG	0.647000														4			14		0	0	0.004007	0	0
SF3B3	23450	broad.mit.edu	37	16	70605710	70605710	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70605710C>T	uc002ezf.3	+	25	3859	c.3648C>T	c.(3646-3648)gcC>gcT	p.A1216A		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1216					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCCGCTACGCCTTCTGAGCCC	0.562000														27			10		0	0	0.000978	0	0
PLCL2	23228	broad.mit.edu	37	3	17053303	17053303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17053303C>T	uc011awc.2	+	2	2537	c.2441C>T	c.(2440-2442)cCt>cTt	p.P814L	PLCL2_uc011awd.2_Missense_Mutation_p.P696L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	822	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATCAACCTGCCTGAACTGGCC	0.458000														26			20		0	0	0.001216	0	0
G6PC2	57818	broad.mit.edu	37	2	169764467	169764467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:169764467G>A	uc002uem.3	+	4	1038	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.E200K	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	316					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CCCGACTCACGAAGAGCATTT	0.438000														72			41		0	0	0.003610	0	0
PMCH	5367	broad.mit.edu	37	12	102590870	102590870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:102590870C>T	uc001tjl.3	-	1	395	c.329G>A	c.(328-330)gGa>gAa	p.G110E	PARPBP_uc001tjf.3_3'UTR|PARPBP_uc010swa.2_3'UTR|PARPBP_uc001tjg.3_3'UTR|PARPBP_uc001tjh.3_3'UTR|PARPBP_uc010swb.2_3'UTR|PARPBP_uc009zuc.3_3'UTR|PARPBP_uc001tjj.3_3'UTR|PARPBP_uc001tjk.3_3'UTR|PARPBP_uc009zud.3_3'UTR	NM_002674	NP_002665	P20382	MCH_HUMAN	Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA.	110					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						AGCTACAGATCCTTTTAGTGC	0.368000														38			24		0	0	0.003330	0	0
NLRP3	114548	broad.mit.edu	37	1	247588671	247588671	+	Silent	SNP	C	T	T	rs34698071	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247588671C>T	uc001icr.3	+	4	2064	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	NLRP3_uc001ics.3_Silent_p.F642F|NLRP3_uc001icu.3_Silent_p.F642F|NLRP3_uc001icw.3_Silent_p.F642F|NLRP3_uc001icv.3_Silent_p.F642F|NLRP3_uc010pyw.2_Silent_p.F640F|NLRP3_uc001ict.1_Silent_p.F640F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	642					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)			AGGAGGACTTCGTGCAAAGGG	0.468000														25			14		0	0	0.001855	0	0
CR1L	1379	broad.mit.edu	37	1	207851615	207851615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207851615C>T	uc001hga.4	+	2	471	c.350C>T	c.(349-351)tCc>tTc	p.S117F	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	117	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTTCAGATCCCAAATTAAA	0.413000														78			29		0	0	0.001271	0	0
DEFB115	245929	broad.mit.edu	37	20	29847299	29847299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:29847299G>A	uc002wvp.1	+	1	131	c.131G>A	c.(130-132)aGa>aAa	p.R44K		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	44					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GGAACTGGCAGATGCAGGAAA	0.308000														25			45		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9076530	9076530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9076530C>T	uc002mkp.3	-	2	11120	c.10916G>A	c.(10915-10917)gGa>gAa	p.G3639E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3640	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						CAGGCTGGTTCCAATGACAGT	0.448000														45			18		0	0	0.001882	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528313	16528313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16528313G>A	uc001ayc.1	-	13	2247	c.2110C>T	c.(2110-2112)Ccc>Tcc	p.P704S	ARHGEF19_uc009voo.1_Missense_Mutation_p.P57S	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	704	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCTGGGGGCTGGAGGGG	0.602000														15			12		0	0	0.002450	0	0
ASXL3	80816	broad.mit.edu	37	18	31319022	31319022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31319022C>T	uc010dmg.1	+	10	1709	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	ASXL3_uc002kxq.2_Missense_Mutation_p.H259Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.H552N(1)|p.H259N(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCTATGACTCATGTCAGTGA	0.423000														14			5		0	0	0.000602	0	0
PTGIS	5740	broad.mit.edu	37	20	48130856	48130856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48130856C>T	uc002xut.3	-	6	986	c.932G>A	c.(931-933)gGa>gAa	p.G311E	PTGIS_uc010zyi.2_Missense_Mutation_p.G172E	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	311					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)	CTCGAGCTCTCCGCGGACAGC	0.582000														13			41		0	0	0.002522	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37425564	37425564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37425564G>A	uc021ppc.1	+	5	716	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	ANKRD30A_uc001iza.1_Missense_Mutation_p.R206Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						GAATATATACGAAAATTATCT	0.269000														19			6		0	0	0.003080	0	0
LOC401127	401127	broad.mit.edu	37	4	39482590	39482590	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39482590C>T	uc011byn.2	+	0		c.716C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		AGACTGCTAGCTCACTCCGAT	0.463000														16			14		0	0	0.004990	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190615322	190615322	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:190615322T>A	uc002uqz.1	-	7	1761	c.1227A>T	c.(1225-1227)caA>caT	p.Q409H	OSGEPL1_uc002ura.1_Non-coding_Transcript|Y_RNA_uc021vua.1_5'Flank	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA.	409					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CCATTTTTAATTGTGGTACTT	0.299000														11			5		0	0	0.003080	0	0
GRIA1	2890	broad.mit.edu	37	5	153144107	153144107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153144107C>T	uc011dcy.2	+	11	1994	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	GRIA1_uc003lva.4_Missense_Mutation_p.P646L|GRIA1_uc003luy.4_Missense_Mutation_p.P646L|GRIA1_uc003luz.4_Missense_Mutation_p.P551L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P566L|GRIA1_uc011dcx.2_Missense_Mutation_p.P577L|GRIA1_uc011dcz.2_Missense_Mutation_p.P656L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	646					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.Q656H(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)	ATGGTGTCTCCCATTGAGAGT	0.527000														13			7		0	0	0.004482	0	0
PROC	5624	broad.mit.edu	37	2	128186197	128186197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128186197G>A	uc002tol.3	+	8	1151	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	PROC_uc002tok.3_Missense_Mutation_p.R354K|PROC_uc010yzi.2_Missense_Mutation_p.R410K|PROC_uc010yzj.2_Missense_Mutation_p.R249K|PROC_uc010yzk.2_Missense_Mutation_p.R409K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	354	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAGGCCAAGAGAAACCGCACC	0.602000														76			41		0	0	0.003610	0	0
NANOG	79923	broad.mit.edu	37	12	7942271	7942271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7942271G>A	uc009zfy.1	+	0	277	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	21					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K20R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CGACTGTAAAGAATCTTCACC	0.448000														87			37		0	0	0.005524	0	0
HRNR	388697	broad.mit.edu	37	1	152188365	152188365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152188365C>T	uc001ezt.1	-	2	5816	c.5740G>A	c.(5740-5742)Gga>Aga	p.G1914R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1914					keratinization		calcium ion binding|protein binding	p.H1913R(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)			GAGCTAGATCCGTGTTGTTCA	0.562000														793			60		0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54959224	54959224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54959224G>A	uc003dhl.3	-	1	160	c.26C>T	c.(25-27)tCc>tTc	p.S9F	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.	9						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)		AATCACACTGGAAAACAGGAG	0.478000														19			12		0	0	0.001855	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857582	9857582	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9857582C>T	uc010uym.2	-	13	4129	c.3819G>A	c.(3817-3819)caG>caA	p.Q1273Q	GRIN2A_uc002czo.4_Silent_p.Q1273Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1273					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)	GGGCATTGTTCTGTGCCCAGT	0.512000														22			26		0	0	0.005443	0	0
C3	718	broad.mit.edu	37	19	6681979	6681979	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6681979C>T	uc002mfm.3	-	34	4385	c.4323G>A	c.(4321-4323)agG>agA	p.R1441R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1441	Properdin-binding.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGAGGGTGTTCCTATCGGAGA	0.532000														85			60		0	0	0.003610	0	0
CAPS2	84698	broad.mit.edu	37	12	75672823	75672823	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:75672823G>A	uc001sxl.3	-	16	1664	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	CAPS2_uc001sxm.3_Silent_p.I332I|CAPS2_uc009zsa.2_Silent_p.I154I|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Intron	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	0	EF-hand 3.						calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AGGATGATTTGATTTCTTCCT	0.328000														63			42		0	0	0.003214	0	0
FRAS1	80144	broad.mit.edu	37	4	79367949	79367949	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:79367949G>A	uc003hlb.2	+	42	6365	c.5925G>A	c.(5923-5925)gtG>gtA	p.V1975V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1974					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGGAGTGGTGATAAGCAATT	0.483000														15			9		0	0	0.000673	0	0
LRP1B	53353	broad.mit.edu	37	2	141457988	141457988	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141457988G>A	uc002tvj.1	-	40	7602	c.6630C>T	c.(6628-6630)tcC>tcT	p.S2210S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2210					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)		GCCTTATTGGGGAATTTAAAT	0.343000										TSP Lung(27;0.18)				72			41		0	0	0.001706	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209669	19209669	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:19209669G>A	uc001bbb.3	-	6	903	c.627C>T	c.(625-627)ccC>ccT	p.P209P	ALDH4A1_uc010ocu.2_Silent_p.P149P|ALDH4A1_uc001bbc.3_Silent_p.P209P|ALDH4A1_uc021ohl.1_Silent_p.P209P	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	209					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGAAGTTAAAGGGCGAGATGG	0.672000														29			33		0	0	0.005524	0	0
OR51E2	81285	broad.mit.edu	37	11	4703695	4703695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4703695G>A	uc001lzk.2	-	1	491	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	OR51E2_uc021qcr.1_Missense_Mutation_p.L83F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A82D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCAGAAAAGGGCAAGGATC	0.517000														32			17		0	0	0.001216	0	0
CALCRL	10203	broad.mit.edu	37	2	188216896	188216896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188216896C>T	uc010frt.3	-	11	1456	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	CALCRL_uc002upv.4_Missense_Mutation_p.G358E	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	358						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGCAATCTTTCCTTCAGGTCG	0.433000														30			26		0	0	0.003954	0	0
MYH15	22989	broad.mit.edu	37	3	108182070	108182070	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108182070A>G	uc003dxa.1	-	16	1869	c.1812T>C	c.(1810-1812)ggT>ggC	p.G604G		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	604	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						TTTCCAGCCAACCACTGATAT	0.383000														83			49		0	0	0.003610	0	0
CCDC129	223075	broad.mit.edu	37	7	31617667	31617667	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31617667G>A	uc011kae.2	+	7	879	c.867G>A	c.(865-867)caG>caA	p.Q289Q	CCDC129_uc011kad.1_Silent_p.Q273Q|CCDC129_uc003tcj.1_Silent_p.Q263Q|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.Q171Q	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	263										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCCAAACAGAACATCAGGC	0.468000														21			10		0	0	0.000978	0	0
AHNAK	79026	broad.mit.edu	37	11	62284544	62284544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62284544G>A	uc001ntl.3	-	4	17645	c.17345C>T	c.(17344-17346)tCa>tTa	p.S5782L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5782					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCACTGAATGAATTTGAGCG	0.522000														39			34		0	0	0.005524	0	0
GSDMA	284110	broad.mit.edu	37	17	38133080	38133080	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38133080G>A	uc002htl.1	+	11	1225	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	GSDMA_uc002htm.1_Silent_p.T369T	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	369					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TGGAGAGCACGATGGAACAGA	0.512000														16			54		0	0	0.003610	0	0
MDGA2	161357	broad.mit.edu	37	14	47351311	47351311	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:47351311G>A	uc001wwj.4	-	10	2510	c.2352C>T	c.(2350-2352)gtC>gtT	p.V784V	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Silent_p.V486V|MDGA2_uc010ani.3_Silent_p.V275V	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	715	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAGTCAGTCGGACTTCATAAG	0.333000														3			25		0	0	0.004656	0	0
FTCD	10841	broad.mit.edu	37	21	47570152	47570152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:47570152G>A	uc002zig.3	-	6	831	c.787C>T	c.(787-789)Cca>Tca	p.P263S	FTCD_uc002zif.3_Missense_Mutation_p.P263S|FTCD_uc002zih.3_Missense_Mutation_p.P263S|FTCD_uc010gqf.3_Missense_Mutation_p.P263S|FTCD_uc010gqg.1_Missense_Mutation_p.P132S			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	263	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCCACCACTGGGAGGCTCAGC	0.682000														13			6		0	0	0.003080	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750737	140750737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140750737C>T	uc003ljw.2	+	0	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.S259F|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	259	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTCCTCCGTATTA	0.468000														17			30		0	0	0.002096	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41064653	41064653	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41064653G>A	uc003jmj.4	-	4	871	c.381C>T	c.(379-381)ttC>ttT	p.F127F	HEATR7B2_uc021xxt.1_Silent_p.F127F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	127							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						TCATCATCATGAAAGGAATAC	0.473000														26			9		0	0	0.000673	0	0
LTF	4057	broad.mit.edu	37	3	46491348	46491348	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46491348C>T	uc003cpq.3	-	7	1294	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	LTF_uc003fzr.3_Silent_p.R307R|LTF_uc010hjh.3_Silent_p.R351R|LTF_uc003cpr.3_Silent_p.R338R	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	351	Transferrin-like 1.				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)	ACTCACTTTTCCTCAAGTTCT	0.567000														13			10		0	0	0.000978	0	0
ATG9B	285973	broad.mit.edu	37	7	150715447	150715447	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150715447C>T	uc011kvc.2	-	6	1882	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	602					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCGGGCTCCTCCGGGAGGT	0.701000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			9		0	0	0.000673	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284412	52284412	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52284412C>T	uc001rzd.3	+	4	860	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.L103L|ANKRD33_uc001rze.3_Silent_p.L124L|ANKRD33_uc001rzg.4_Silent_p.L30L|ANKRD33_uc001rzi.4_Silent_p.L103L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	103										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAGACGGCCCTGGAATGGGC	0.627000														13			11		0	0	0.000978	0	0
SLC24A3	57419	broad.mit.edu	37	20	19666004	19666004	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:19666004C>T	uc002wrl.3	+	12	1521	c.1324_splice	c.e12+1	p.S442_splice		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	442						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCGACACCCCCTGTAAGAGGT	0.438000														19			26		0	0	0.002836	0	0
VSTM4	196740	broad.mit.edu	37	10	50315705	50315705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	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														33			24		0	0	0.002780	0	0
ZFP42	132625	broad.mit.edu	37	4	188924607	188924607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:188924607G>A	uc003izh.1	+	3	1054	c.646G>A	c.(646-648)Gac>Aac	p.D216N	ZFP42_uc003izi.1_Missense_Mutation_p.D216N|ZFP42_uc021xvm.1_Missense_Mutation_p.D216N	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	216					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R215R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGTCCCCGAGACCACGTCTG	0.502000														60			35		0	0	0.001287	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763207	77763207	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77763207G>A	uc003yau.2	+	9	4437	c.4050G>A	c.(4048-4050)ccG>ccA	p.P1350P	ZFHX4_uc003yaw.1_Silent_p.P1305P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1305						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)			AGCAGAAACCGACTAAAGAAC	0.398000										HNSCC(33;0.089)				33			14		0	0	0.001855	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285908	41285908	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:41285908G>A	uc001cgh.2	+	6	1099	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	KCNQ4_uc001cgi.2_Silent_p.R339R	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	339					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGAAGCGGAGGATGCCGGCAG	0.612000														5			7		0	0	0.003080	0	0
C10orf129	142827	broad.mit.edu	37	10	96971651	96971651	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96971651C>T	uc001kke.3	+	5	897	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	C10orf129_uc009xuu.1_Nonsense_Mutation_p.Q168*	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	258					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GATGGATCTCCAGCCAACAGA	0.468000														27			19		0	0	0.003954	0	0
MGLL	11343	broad.mit.edu	37	3	127414013	127414013	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:127414013G>A	uc003ejx.3	-	6	736	c.591C>T	c.(589-591)gaC>gaT	p.D197D	MGLL_uc003ejw.3_Silent_p.D207D|MGLL_uc011bko.2_Silent_p.D177D|MGLL_uc003ejv.3_Silent_p.D171D	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	197					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						AGATCAGGGGGTCTGAGTTAT	0.582000														17			9		0	0	0.000978	0	0
PSMD2	5708	broad.mit.edu	37	3	184021489	184021489	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184021489C>T	uc003fnn.1	+	9	1308	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	PSMD2_uc011brj.1_Silent_p.G266G|PSMD2_uc011brk.1_Silent_p.G295G	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	425					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 regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGGATGGTGGCCTCACCCAGA	0.478000														24			15		0	0	0.000958	0	0
LRRC4	64101	broad.mit.edu	37	7	127670519	127670519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127670519C>T	uc003vmk.3	-	1	312	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.V59M	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	59	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GTGCACACCACCTTGCTGAAC	0.632000														35			49		0	0	0.003610	0	0
CCDC14	64770	broad.mit.edu	37	3	123634093	123634093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:123634093G>A	uc011bjx.2	-	12	2486	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S	CCDC14_uc003egv.4_Missense_Mutation_p.P440S|CCDC14_uc003egx.4_Missense_Mutation_p.P599S|CCDC14_uc010hrt.3_Missense_Mutation_p.P758S|CCDC14_uc003egy.4_Missense_Mutation_p.P599S|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	799						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGTGGCTGAGGGGATAGTCTC	0.393000														50			46		0	0	0.003610	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14764014	14764014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14764014G>A	uc010dlo.2	+	6	1330	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.E384K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	384										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATAAAACTGAAGTTTTGGA	0.368000														2			9		0	0	0.004482	0	0
C10orf81	79949	broad.mit.edu	37	10	115526406	115526406	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:115526406G>A	uc001lat.2	+	2	697	c.135G>A	c.(133-135)aaG>aaA	p.K45K	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Silent_p.K51K|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	45	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TCCTGTCAAAGGCTGGGGAAA	0.328000														60			28		0	0	0.002445	0	0
C20orf132	140699	broad.mit.edu	37	20	35738759	35738759	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:35738759C>T	uc010zvu.2	-	23	2906	c.2815_splice	c.e23-1	p.E939_splice	C20orf132_uc002xgk.3_Splice_Site_p.E571_splice	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				ACTTTTTTTCCTAAGTGTGGA	0.408000														56			102		0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130286982	130286982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:130286982G>A	uc010htl.3	+	4	1966	c.1935G>A	c.(1933-1935)atG>atA	p.M645I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	645	Nonhelical region.|VWFA 4.				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						AAACATTTATGAAAAACCTGG	0.423000														83			37		0	0	0.004289	0	0
ABCA8	10351	broad.mit.edu	37	17	66878783	66878783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:66878783C>T	uc002jhq.3	-	29	4125	c.3785G>A	c.(3784-3786)aGa>aAa	p.R1262K	ABCA8_uc002jhp.3_Missense_Mutation_p.R1222K|ABCA8_uc010wqq.2_Missense_Mutation_p.R1257K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1222	ABC transporter 2.					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)					TGTTCTCACTCTTTCCATCTG	0.348000														8			59		0	0	0.003610	0	0
ZNF501	115560	broad.mit.edu	37	3	44776715	44776715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44776715C>T	uc003cnu.1	+	2	1203	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZNF501_uc021wwq.1_Missense_Mutation_p.H268Y	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCAGAGGCTTCATGCTGGAGA	0.383000														27			25		0	0	0.005443	0	0
P2RX4	5025	broad.mit.edu	37	12	121660778	121660778	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121660778C>T	uc001tzr.3	+	4	760	c.456C>T	c.(454-456)ttC>ttT	p.F152F	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.3_Intron|P2RX4_uc010szt.2_Silent_p.F51F|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	152					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCGTAGCTTTCAACGGGTCTG	0.577000														84			63		0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132551442	132551442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:132551442C>T	uc001ujn.3	+	48	8829	c.8677C>T	c.(8677-8679)Ccg>Tcg	p.P2893S	EP400_uc021rgq.1_Missense_Mutation_p.P2892S|EP400_uc001ujm.3_Missense_Mutation_p.P2812S|EP400_uc001ujp.3_Missense_Mutation_p.P103S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2929					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTCTCCTCACCGGGAGTCAC	0.701000														17			10		0	0	0.000673	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057979	152057979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152057979C>T	uc001ezo.1	-	2	2244	c.2179G>A	c.(2179-2181)Gac>Aac	p.D727N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	727							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGAATTGTCCTCATCTAGA	0.448000														72			83		0	0	0.003610	0	0
KRBA1	84626	broad.mit.edu	37	7	149426454	149426454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:149426454C>T	uc003wfz.3	+	13	2200	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Intron|KRBA1_uc003wgb.3_Intron	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	602										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGTGGCTCCCAGAGGGTGA	0.607000														3			6		0	0	0.003080	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508675	106508675	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:106508675C>T	uc003vdv.4	+	1	754	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PIK3CG_uc003vdu.3_Silent_p.V223V|PIK3CG_uc003vdw.3_Silent_p.V223V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	223					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTCATCGTCATTCACCGCA	0.587000														48			70		0	0	0.003610	0	0
SMYD1	150572	broad.mit.edu	37	2	88390602	88390602	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:88390602C>T	uc002ssr.3	+	3	685	c.600C>T	c.(598-600)aaC>aaT	p.N200N	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	200	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTTCCCCAACCTGGGCCTGG	0.507000														60			50		0	0	0.003610	0	0
DNMBP	23268	broad.mit.edu	37	10	101640083	101640083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:101640083G>A	uc001kqj.2	-	15	4125	c.4033C>T	c.(4033-4035)Ccc>Tcc	p.P1345S	DNMBP_uc010qpl.1_Missense_Mutation_p.P281S|DNMBP_uc001kqg.2_Missense_Mutation_p.P633S|DNMBP_uc001kqh.2_Missense_Mutation_p.P977S	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1345	SH3 5.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGATTGTAGGGCTTTAGGAAA	0.547000														15			18		0	0	0.001216	0	0
POTEF	728378	broad.mit.edu	37	2	130877705	130877705	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:130877705G>A	uc010fmh.2	-	2	784	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	128						cell cortex	ATP binding	p.A127V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGGGCTCCATGAAGGCACTGT	0.587000														25			18		0	0	0.003954	0	0
MYH3	4621	broad.mit.edu	37	17	10546172	10546172	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10546172G>A	uc002gmq.2	-	14	1640	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	518	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGGCAGCCAGGTCCATCCCG	0.498000														12			49		0	0	0.003610	0	0
FASLG	356	broad.mit.edu	37	1	172633473	172633473	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:172633473G>A	uc001gis.3	+	3	552	c.395_splice	c.e3-1	p.G132_splice	FASLG_uc001git.3_Splice_Site_p.A117_splice	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	132					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CTATGATACAGGCCACCCCAG	0.363000														24			35		0	0	0.005524	0	0
FSCN3	29999	broad.mit.edu	37	7	127240292	127240292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127240292C>T	uc003vmd.2	+	5	1555	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	FSCN3_uc011koh.1_Missense_Mutation_p.S310L|FSCN3_uc010llc.2_Missense_Mutation_p.S444L	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	446						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCACCTTTCGCCCTTGGGG	0.557000														14			41		0	0	0.003610	0	0
CRIM1	51232	broad.mit.edu	37	2	36691732	36691732	+	Missense_Mutation	SNP	C	T	T	rs142032514		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:36691732C>T	uc002rpd.3	+	4	991	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	309					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGGATCCACTCCCCGCATAGT	0.483000														54			55		0	0	0.003610	0	0
TRPM2	7226	broad.mit.edu	37	21	45819208	45819208	+	Missense_Mutation	SNP	G	A	A	rs150593294		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45819208G>A	uc010gpt.1	+	13	2192	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	TRPM2_uc002zet.1_Missense_Mutation_p.E698K|TRPM2_uc002zeu.1_Missense_Mutation_p.E698K|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.E698K|TRPM2_uc002zex.1_Missense_Mutation_p.E484K|TRPM2_uc002zey.1_Missense_Mutation_p.E211K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	698						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.D697D(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGAAGGACGAAGAGAGAGC	0.627000														26			14		0	0	0.004007	0	0
MTUS2	23281	broad.mit.edu	37	13	29599243	29599243	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:29599243G>A	uc001usl.4	+	0	496	c.438G>A	c.(436-438)agG>agA	p.R146R		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	136						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGAGTTGGAGGAATGTGATGA	0.507000														41			61		0	0	0.003610	0	0
STRA6	64220	broad.mit.edu	37	15	74472508	74472508	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:74472508C>T	uc002axj.3	-	18	2394	c.2034G>A	c.(2032-2034)tgG>tgA	p.W678*	STRA6_uc002axi.3_Nonsense_Mutation_p.W448*|STRA6_uc010ulh.2_Nonsense_Mutation_p.W677*|STRA6_uc002axk.3_Nonsense_Mutation_p.W639*|STRA6_uc002axl.3_Nonsense_Mutation_p.W571*|STRA6_uc010bji.3_Nonsense_Mutation_p.W639*|STRA6_uc021sqg.1_Nonsense_Mutation_p.W654*|STRA6_uc002axm.3_Nonsense_Mutation_p.W639*|STRA6_uc002axn.3_Nonsense_Mutation_p.W630*|STRA6_uc010uli.2_Nonsense_Mutation_p.W676*	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	639					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGGCCAGACCCCAGCGAGCCC	0.647000														73			35		0	0	0.004289	0	0
DSCAM	1826	broad.mit.edu	37	21	41719772	41719772	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41719772G>A	uc002yyq.1	-	5	1487	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	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.	345	Ig-like C2-type 4.				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)				GGTACCAGGAGAGTTCCTGGT	0.493000														60			44		0	0	0.002522	0	0
TMEM30A	55754	broad.mit.edu	37	6	75965936	75965936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:75965936G>A	uc003phw.2	-	6	1246	c.968C>T	c.(967-969)cCa>cTa	p.P323L	TMEM30A_uc003phx.2_Missense_Mutation_p.P287L	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	323						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCAAAAATGGATTTTTTCC	0.368000														47			39		0	0	0.002222	0	0
KIF22	3835	broad.mit.edu	37	16	29814139	29814139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29814139C>T	uc002dts.3	+	8	1353	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.L376F|KIF22_uc010vdw.1_Missense_Mutation_p.L376F|KIF22_uc002frc.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	444				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGAGCGCCTCCTCAGCTTGGA	0.602000														43			21		0	0	0.002780	0	0
SYT9	143425	broad.mit.edu	37	11	7334794	7334794	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7334794G>A	uc001mfe.3	+	2	903	c.666G>A	c.(664-666)ggG>ggA	p.G222G	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	222	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGGCTTGTGGGAAACTGAACT	0.413000														29			19		0	0	0.000958	0	0
HNF4G	3174	broad.mit.edu	37	8	76471221	76471221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:76471221C>T	uc003yaq.3	+	8	1201	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F	HNF4G_uc003yar.3_Missense_Mutation_p.L348F	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	311					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTTGTTAAACTTTTTGGGAT	0.398000														62			59		0	0	0.003610	0	0
POU6F2	11281	broad.mit.edu	37	7	39247114	39247114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:39247114G>A	uc003thb.2	+	4	549	c.406G>A	c.(406-408)Gga>Aga	p.G136R	POU6F2_uc022acb.1_Missense_Mutation_p.G136R|POU6F2_uc010kxo.3_Missense_Mutation_p.G128R	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	136					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						AGGCCAGCAAGGACTGGTTCT	0.597000														48			31		0	0	0.001271	0	0
TPPP	11076	broad.mit.edu	37	5	677968	677968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:677968C>T	uc003jbg.4	-	0	926	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TPPP_uc003jbh.4_Missense_Mutation_p.E70K	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	70	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGTGCATCTCCCTCCCGGTG	0.652000														19			13		0	0	0.001855	0	0
SLIT1	6585	broad.mit.edu	37	10	98781151	98781151	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98781151G>A	uc001kmw.2	-	25	2854	c.2602C>T	c.(2602-2604)Cta>Tta	p.L868L		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	868	LRRCT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCACAGTATAGGGGGTTGGCA	0.607000														15			8		0	0	0.003080	0	0
OR4K13	390433	broad.mit.edu	37	14	20502725	20502725	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502725T>C	uc010tkz.2	-	0	193	c.193A>G	c.(193-195)Aac>Gac	p.N65D		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAGGAGAGGTTGCTAAGCAGA	0.458000														21			19		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179587175	179587175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179587175G>A	uc021vsy.1	-	73	18832	c.18607C>T	c.(18607-18609)Ccc>Tcc	p.P6203S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2864S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7130	Ig-like 43.						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)			ACTTGGATGGGTGCAGAGCCA	0.398000														56			30		0	0	0.002096	0	0
CLEC16A	23274	broad.mit.edu	37	16	11063148	11063148	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:11063148C>T	uc021tcy.1	+	3	704	c.474C>T	c.(472-474)gtC>gtT	p.V158V	CLEC16A_uc002dan.4_Silent_p.V158V|CLEC16A_uc002dao.3_Silent_p.V158V	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	158										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCACACTGTCCATTTCTTTT	0.373000														19			5		0	0	0.000602	0	0
CFH	3075	broad.mit.edu	37	1	196857321	196857321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:196857321C>T	uc001gtp.3	+	0	178	c.41C>T	c.(40-42)tCc>tTc	p.S14F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S14F|CFH_uc001gto.3_Missense_Mutation_p.S14F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	1151					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGGGTTTCCTGTGCTAAT	0.343000														31			46		0	0	0.003610	0	0
OR2T34	127068	broad.mit.edu	37	1	248737485	248737485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248737485G>A	uc001iep.1	-	0	574	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			GAGCAGGAGAGCTTCAGCAGG	0.512000														54			66		0	0	0.003610	0	0
BPIFC	254240	broad.mit.edu	37	22	32827380	32827380	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32827380G>A	uc003amn.2	-	10	1171	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	BPIFC_uc010gwo.2_Silent_p.L148L|BPIFC_uc011amb.1_Silent_p.L115L	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	391						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAATAACCAGGCCAACACTG	0.383000														20			18		0	0	0.001882	0	0
MYO3B	140469	broad.mit.edu	37	2	171248117	171248117	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:171248117A>T	uc002ufy.3	+	14	1808	c.1665A>T	c.(1663-1665)gaA>gaT	p.E555D	MYO3B_uc002ufv.3_Missense_Mutation_p.E542D|MYO3B_uc010fqb.1_Missense_Mutation_p.E555D|MYO3B_uc002ufz.3_Missense_Mutation_p.E555D|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.	555	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTCCTGAGGAAAAACCTCCTA	0.348000														33			17		0	0	0.001216	0	0
FILIP1	27145	broad.mit.edu	37	6	76023302	76023302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76023302G>A	uc010kbe.3	-	5	2785	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	FILIP1_uc003phy.1_Missense_Mutation_p.S749F|FILIP1_uc003phz.3_Missense_Mutation_p.S650F|FILIP1_uc003pia.3_Missense_Mutation_p.S749F|FILIP1_uc003pib.1_Missense_Mutation_p.S501F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	749										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						TTGAAGTACAGAATAATCTAC	0.383000														49			48		0	0	0.003610	0	0
ALS2CL	259173	broad.mit.edu	37	3	46716097	46716097	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46716097G>A	uc003cqa.2	-	20	2581	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	ALS2CL_uc003cpx.2_Silent_p.L143L|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.L311L|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L796L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	796	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TATCAGGAAAGAGGCTCAAGT	0.552000														73			38		0	0	0.001287	0	0
PRIC285	85441	broad.mit.edu	37	20	62199768	62199768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62199768G>A	uc002yfm.2	-	5	2565	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	558					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GACCTCCAGGGAGGCCATGGC	0.667000														10			16		0	0	0.004990	0	0
GGH	8836	broad.mit.edu	37	8	63948262	63948262	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:63948262G>A	uc003xuw.3	-	1	460	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	59	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	ACTTTACATAGGACGCAGCAA	0.313000														94			34		0	0	0.002522	0	0
UBR1	197131	broad.mit.edu	37	15	43339380	43339380	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:43339380G>A	uc001zqq.3	-	13	1713	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	UBR1_uc010udk.1_Silent_p.F549F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	549					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCACTCTTGGAACATGAGTA	0.363000														70			64		0	0	0.003610	0	0
MGA	23269	broad.mit.edu	37	15	42019419	42019419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42019419C>T	uc010ucy.2	+	9	3653	c.3472C>T	c.(3472-3474)Cca>Tca	p.P1158S	MGA_uc010ucz.2_Missense_Mutation_p.P1158S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1158						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCGACATTACCCATTATGGGT	0.408000														27			16		0	0	0.004007	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750463	94750463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94750463C>T	uc001yct.3	-	4	1640	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	SERPINA10_uc001ycu.4_Missense_Mutation_p.E392K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	392					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTGCCCCTTTCATCAACTTCA	0.418000														2			30		0	0	0.002836	0	0
USH2A	7399	broad.mit.edu	37	1	215844436	215844436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215844436C>T	uc001hku.1	-	63	14398	c.14011G>A	c.(14011-14013)Gaa>Aaa	p.E4671K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4671	Fibronectin type-III 32.				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)		CTGTATAATTCGTAATACAAA	0.418000										HNSCC(13;0.011)				88			42		0	0	0.001485	0	0
HRNR	388697	broad.mit.edu	37	1	152193735	152193735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152193735C>T	uc001ezt.1	-	2	446	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	124					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGAGGATTCTTGCCGTTTG	0.433000														101			35		0	0	0.004289	0	0
CES3	23491	broad.mit.edu	37	16	66997264	66997264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:66997264G>A	uc002eqt.3	+	1	344	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CES3_uc010cdz.3_Missense_Mutation_p.D89N	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	89						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGTGTGCGGGATGCCAGCAC	0.632000														30			21		0	0	0.002299	0	0
POU1F1	5449	broad.mit.edu	37	3	87309064	87309064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:87309064C>T	uc010hoj.1	-	5	1059	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	POU1F1_uc003dqq.1_Missense_Mutation_p.E286K	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	286					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TCAAGATGTTCCTTAGAAATA	0.358000														27			14		0	0	0.003163	0	0
SLIT3	6586	broad.mit.edu	37	5	168201309	168201309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168201309G>A	uc010jjg.3	-	12	1646	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	SLIT3_uc003mab.3_Missense_Mutation_p.S409F|SLIT3_uc010jji.2_Missense_Mutation_p.S409F|SLIT3_uc003mac.1_Missense_Mutation_p.S206F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	409					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATACAGGGAGAGCAAGTT	0.557000														30			62		0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373178	84373178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:84373178C>T	uc002bjz.4	+	2	331	c.107C>T	c.(106-108)cCc>cTc	p.P36L	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.P36L|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P36L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	36						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.P36P(2)		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)			TATTTCCTTCCCGAGTTTGCA	0.463000														110			96		0	0	0.003610	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171147	4171147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4171147C>T	uc002lzl.3	+	7	1066	c.950C>T	c.(949-951)tCa>tTa	p.S317L	CREB3L3_uc002lzm.3_Missense_Mutation_p.S307L|CREB3L3_uc010xib.2_Missense_Mutation_p.S306L|CREB3L3_uc010xic.2_Silent_p.V272V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	317					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCAAGTCAGCCCAGACA	0.607000														27			20		0	0	0.001882	0	0
KRT6A	3853	broad.mit.edu	37	12	52881613	52881613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52881613G>A	uc001sam.3	-	8	1795	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	529	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTGCTGGAACTGAAGCC	0.607000														27			20		0	0	0.001216	0	0
C16orf91	283951	broad.mit.edu	37	16	1476274	1476275	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1476274_1476275CC>TT	uc010uvd.2	-	2	348_349	c.348_349GG>AA	c.(346-351)agggcc>agAAcc	p.A117T		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AATCGAAGGGCCCTCTGGTTAG	0.609000														28			12		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82764151	82764151	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82764151G>A	uc003uhx.2	-	2	3004	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	PCLO_uc003uhv.2_Silent_p.F905F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	851	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						GATTCAGACTGAAACGCCTTG	0.537000														134			64		0	0	0.003610	0	0
BAI2	576	broad.mit.edu	37	1	32193118	32193118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32193118G>A	uc001btn.3	-	32	5015	c.4661C>T	c.(4660-4662)tCg>tTg	p.S1554L	BAI2_uc010ogn.2_Missense_Mutation_p.S524L|BAI2_uc010ogo.2_Missense_Mutation_p.S1144L|BAI2_uc010ogp.2_Missense_Mutation_p.S1487L|BAI2_uc010ogq.2_Missense_Mutation_p.S1520L|BAI2_uc001bto.3_Missense_Mutation_p.S1553L|BAI2_uc001btp.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1554					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGGGGCAGCGAGCCCAGTGT	0.637000														18			9		0	0	0.000673	0	0
OTOGL	283310	broad.mit.edu	37	12	80707383	80707383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:80707383C>T	uc001szd.3	+	29	3557	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAAGGAATATCAATTCATTGG	0.358000														74			39		0	0	0.002222	0	0
TRANK1	9881	broad.mit.edu	37	3	36880178	36880178	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36880178A>T	uc003cgj.3	-	17	5426	c.5178T>A	c.(5176-5178)ggT>ggA	p.G1726G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1726					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTCAAATGCACCTCCTTTCT	0.473000														9			7		0	0	0.003080	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760810	15760810	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15760810C>T	uc010xok.2	+	6	785	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CYP4F3_uc010xol.2_Silent_p.F245F|CYP4F3_uc002nbj.3_Silent_p.F245F|CYP4F3_uc010xom.2_Silent_p.F96F|CYP4F3_uc002nbk.3_Silent_p.F245F|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	245					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACATAGACTTCCTGTATTATC	0.572000														87			60		0	0	0.003610	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900323	73900323	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73900323G>A	uc011dyh.2	+	12	2009	c.1662G>A	c.(1660-1662)cgG>cgA	p.R554R	KCNQ5_uc011dyi.2_Silent_p.R545R|KCNQ5_uc010kat.3_Silent_p.R526R|KCNQ5_uc003pgk.3_Silent_p.R535R|KCNQ5_uc011dyj.2_Silent_p.R425R|KCNQ5_uc011dyk.2_Silent_p.R285R	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	535					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGCAAAACGGAAGTTTAAGG	0.289000														18			20		0	0	0.000958	0	0
CLPTM1	1209	broad.mit.edu	37	19	45493792	45493792	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45493792C>T	uc002pai.3	+	9	1326	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	CLPTM1_uc010xxf.2_Silent_p.F322F|CLPTM1_uc010xxg.2_Silent_p.F410F|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	424					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAGCGTCTTCATTGGGGTCC	0.597000														183			136		0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92731473	92731473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92731473G>A	uc003umf.3	-	2	4208	c.3938C>T	c.(3937-3939)tCa>tTa	p.S1313L	SAMD9_uc003umg.3_Missense_Mutation_p.S1313L|SAMD9_uc022ahg.1_Missense_Mutation_p.S1313L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1313						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTGTTTTGTGATTCTTCTAA	0.383000														62			105		0	0	0.003610	0	0
METTL16	79066	broad.mit.edu	37	17	2405514	2405514	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2405514G>A	uc002fut.3	-	1	260	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	METTL16_uc010cka.3_Intron|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Silent_p.L38L|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_5'UTR	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	38							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTTCCATTCAGATTTATCTGA	0.363000														10			61		0	0	0.003610	0	0
KIF1C	10749	broad.mit.edu	37	17	4926946	4926946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4926946C>T	uc002gan.2	+	22	3169	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	938					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGTCGTGGTCGTCTTCGCTG	0.716000														2			28		0	0	0.001512	0	0
TECTA	7007	broad.mit.edu	37	11	120979978	120979978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:120979978C>T	uc010rzo.2	+	2	257	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	86					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGCCAGAATCCTTTCCCCTG	0.483000														24			20		0	0	0.000958	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101971489	101971489	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:101971489C>T	uc022cbh.1	+	0	1692	c.1692C>T	c.(1690-1692)gtC>gtT	p.V564V	ARMCX5-GPRASP2_uc022cay.1_Silent_p.V564V|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.V564V|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.V564V|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.V564V|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.V564V|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.V564V|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.V564V	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	564						cytoplasm	protein binding										ACCGGTCAGTCCGGGAAATTC	0.493000														8			37		0	0	0.004878	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370452	38370452	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38370452C>T	uc003jlc.2	+	5	946	c.600C>T	c.(598-600)tcC>tcT	p.S200S	EGFLAM_uc003jlb.2_Silent_p.S200S	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	200	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGATGGACTCCATGGTTATCA	0.498000														38			34		0	0	0.001485	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246996	47246996	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:47246996A>G	uc002ion.2	+	10	1666	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	B4GALNT2_uc010wlt.1_Missense_Mutation_p.K450R|B4GALNT2_uc010wlu.1_Missense_Mutation_p.K476R	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	536					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GCCCTAGAGAAGACCTACAAT	0.547000														168			14		0	0	0.001855	0	0
LDB3	11155	broad.mit.edu	37	10	88439889	88439889	+	Missense_Mutation	SNP	C	T	T	rs148638169		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:88439889C>T	uc001kdv.3	+	2	319	c.296C>T	c.(295-297)cCt>cTt	p.P99L	LDB3_uc010qml.1_Missense_Mutation_p.P99L|LDB3_uc010qmm.2_Missense_Mutation_p.P99L|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Missense_Mutation_p.P99L|LDB3_uc001kdr.3_Missense_Mutation_p.P99L|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Missense_Mutation_p.P99L|LDB3_uc001kds.3_Missense_Mutation_p.P99L	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	99						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GTCCAGACCCCTCTGCCGGTG	0.622000														20			10		0	0	0.000978	0	0
CCDC87	55231	broad.mit.edu	37	11	66358741	66358741	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66358741G>A	uc001oiq.4	-	0	1814	c.1746C>T	c.(1744-1746)gcC>gcT	p.A582A	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	582										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCATCAAGGAGGCCTTGTTTG	0.453000														58			33		0	0	0.003271	0	0
LOC285501	285501	broad.mit.edu	37	4	178897069	178897069	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:178897069C>T	uc010iru.3	+	4		c.734C>T								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		GTGTCTGATTCTCTGAAGTAT	0.388000														99			64		0	0	0.003610	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996005	57996005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57996005C>T	uc010rkd.2	-	0	386	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGAAACAGTCCGTGCTGCCG	0.557000														25			15		0	0	0.004990	0	0
SLC22A18	5002	broad.mit.edu	37	11	2929491	2929491	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:2929491C>G	uc001lwx.3	+	2	391	c.173C>G	c.(172-174)tCc>tGc	p.S58C	SLC22A18_uc001lwy.3_Missense_Mutation_p.S58C	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	58					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCTGGATTCCATTGCCTTC	0.617000														120			71		0	0	0.003610	0	0
IQCF2	389123	broad.mit.edu	37	3	51895942	51895942	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51895942G>A	uc003dbt.1	+	1	125	c.87G>A	c.(85-87)caG>caA	p.Q29Q	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	29										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACATTGCAGAAGAAGAAAC	0.338000														25			23		0	0	0.003954	0	0
RNF170	81790	broad.mit.edu	37	8	42725192	42725192	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:42725192G>A	uc003xpo.3	-	3	754	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	RNF170_uc011lcx.2_Nonsense_Mutation_p.Q93*|RNF170_uc003xpp.3_Silent_p.T21T|RNF170_uc003xpn.3_Silent_p.T21T|RNF170_uc010lxp.3_Nonsense_Mutation_p.Q9*|RNF170_uc003xpm.3_Nonsense_Mutation_p.Q93*|RNF170_uc003xpq.4_Nonsense_Mutation_p.Q93*	NM_001160223	NP_001153697	Q96K19	RN170_HUMAN	Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA.	93						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGGAGGCTTGGTGCAGGCAG	0.483000														12			49		0	0	0.003610	0	0
INADL	10207	broad.mit.edu	37	1	62263076	62263076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62263076C>T	uc001dab.3	+	10	1492	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	INADL_uc009waf.1_Missense_Mutation_p.P460S|INADL_uc001daa.2_Missense_Mutation_p.P460S|INADL_uc001dad.3_Missense_Mutation_p.P157S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	460					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCTACTTCTCCACTTGAACC	0.443000														62			45		0	0	0.003610	0	0
C10orf107	219621	broad.mit.edu	37	10	63519931	63519931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:63519931G>A	uc010qik.2	+	4	708	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	135								p.T134A(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ATTGGATACGGAAATGAAGGT	0.383000														41			19		0	0	0.001523	0	0
OSMR	9180	broad.mit.edu	37	5	38869153	38869153	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38869153C>A	uc003jln.2	+	1	409	c.7C>A	c.(7-9)Cta>Ata	p.L3I	OSMR_uc003jlm.2_Missense_Mutation_p.L3I	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	3					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACTGATGGCTCTATTTGCAGT	0.338000														56			46		1.6237e-14	3.41277e-14	0.003214	1	0
CNTN6	27255	broad.mit.edu	37	3	1418760	1418760	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:1418760G>A	uc003boz.3	+	17	2433	c.2166_splice	c.e17+1	p.E722_splice	CNTN6_uc011asj.2_Splice_Site_p.E650_splice|CNTN6_uc003bpa.3_Splice_Site_p.E722_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	722	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TACGTGGGAGGTAATTTTCTG	0.393000														45			33		0	0	0.002836	0	0
ATM	472	broad.mit.edu	37	11	108164093	108164093	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108164093C>T	uc001pkb.1	+	30	5050	c.4665C>T	c.(4663-4665)ctC>ctT	p.L1555L	ATM_uc009yxr.1_Silent_p.L1555L|ATM_uc001pke.2_Silent_p.L207L|ATM_uc001pkf.3_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1555					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGAAAACCTCTATATCACGA	0.279000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				39			27		0	0	0.003954	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882210	7882210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7882210C>T	uc001qtg.1	-	5	798	c.624G>A	c.(622-624)atG>atA	p.M208I	CLEC4C_uc001qth.1_Missense_Mutation_p.M208I|CLEC4C_uc001qti.1_Missense_Mutation_p.M177I	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	208					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATCTTCTTCATCTTGCAAA	0.363000														32			25		0	0	0.001061	0	0
INHBC	3626	broad.mit.edu	37	12	57828709	57828709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57828709C>T	uc001snv.1	+	0	167	c.40C>T	c.(40-42)Cca>Tca	p.P14S		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	14					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTCCTGGCTCCAACCACAGT	0.602000														16			10		0	0	0.002450	0	0
OC90	729330	broad.mit.edu	37	8	133036768	133036768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133036768G>A	uc003ytg.2	-	12	1394	c.1394C>T	c.(1393-1395)tCa>tTa	p.S465L	OC90_uc011lix.1_Missense_Mutation_p.S465L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	481					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGACCCAGTGACTTCCGCAG	0.612000														20			13		0	0	0.001855	0	0
CCDC158	339965	broad.mit.edu	37	4	77305775	77305775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77305775G>A	uc003hkb.4	-	3	485	c.332C>T	c.(331-333)tCa>tTa	p.S111L	CCDC158_uc003hkd.3_Missense_Mutation_p.S111L	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	111										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATCAATGACTGACTGCCTCAA	0.338000														76			32		0	0	0.004289	0	0
TEX33	339669	broad.mit.edu	37	22	37397939	37397939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37397939G>A	uc003aqf.3	-	2	574	c.428C>T	c.(427-429)cCt>cTt	p.P143L	TEX33_uc003aqe.3_Missense_Mutation_p.P58L	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	143																	AATGTTGTTAGGAATGATGCT	0.607000														3			5		0	0	0.001168	0	0
DCAF16	54876	broad.mit.edu	37	4	17805433	17805433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:17805433G>A	uc003gpn.3	-	2	1393	c.332C>T	c.(331-333)cCt>cTt	p.P111L	DCAF16_uc021xmp.1_Missense_Mutation_p.P111L	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	111						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GGGCCATTCAGGAATTGGTTC	0.498000														78			58		0	0	0.003610	0	0
WFDC11	259239	broad.mit.edu	37	20	44279216	44279216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44279216C>T	uc002xpa.3	-	2	219	c.24G>A	c.(22-24)tgG>tgA	p.W8*		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	8						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				GCATGGGTATCCAGAGCTTCA	0.443000														31			70		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181727983	181727983	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181727983G>A	uc009wxt.3	+	31	4779	c.4584G>A	c.(4582-4584)aaG>aaA	p.K1528K	CACNA1E_uc001gow.3_Silent_p.K1528K|CACNA1E_uc009wxs.3_Silent_p.K1509K|CACNA1E_uc001gox.1_Silent_p.K754K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1528					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						GTGTCCTGAAGGTCATCGCTT	0.498000														69			23		0	0	0.005443	0	0
MNT	4335	broad.mit.edu	37	17	2290863	2290863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2290863G>A	uc002fur.3	-	5	1333	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	361					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		AGCAGCTCCGGCTGGGGACGA	0.677000														18			128		0	0	0.003610	0	0
DTX3L	151636	broad.mit.edu	37	3	122289444	122289444	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122289444G>T	uc003efk.3	+	3	2167	c.2078G>T	c.(2077-2079)cGc>cTc	p.R693L	DTX3L_uc010hrj.3_Missense_Mutation_p.R181L|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	693					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.R693S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGGTACTCTCGCGTATTAGGA	0.428000														36			23		2.21704e-12	4.65609e-12	0.002780	1	0
PLCL2	23228	broad.mit.edu	37	3	17052122	17052122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17052122G>A	uc011awc.2	+	2	1356	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.M302I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	428					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTCAGGATATGAAGCAACCTC	0.408000														80			61		0	0	0.003610	0	0
WLS	79971	broad.mit.edu	37	1	68603577	68603577	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:68603577G>A	uc001dee.3	-	10	1698	c.1396C>T	c.(1396-1398)Caa>Taa	p.Q466*	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Nonsense_Mutation_p.Q468*|WLS_uc001deg.2_Nonsense_Mutation_p.Q377*|WLS_uc009wbf.1_Nonsense_Mutation_p.Q423*	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	468					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTTCACTTGGACTGTGACG	0.438000														29			26		0	0	0.001061	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884841	228884841	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228884841A>T	uc002vpq.2	-	6	776	c.729T>A	c.(727-729)gtT>gtA	p.V243V	SPHKAP_uc002vpp.2_Silent_p.V243V|SPHKAP_uc010zlx.1_Silent_p.V243V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	243						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)		TACTTTCCAAAACATTGGCTG	0.363000														82			43		0	0	0.002222	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676627	65676627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:65676627G>A	uc002aou.1	-	19	3683	c.3473C>T	c.(3472-3474)cCc>cTc	p.P1158L	IGDCC4_uc002aot.1_Missense_Mutation_p.P746L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1158						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGGCAGGGGGTCCTCAGG	0.612000														22			13		0	0	0.003163	0	0
PTPRB	5787	broad.mit.edu	37	12	70960270	70960270	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70960270G>A	uc001swb.4	-	12	3225	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Silent_p.I975I|PTPRB_uc001swc.4_Silent_p.I1283I|PTPRB_uc001swa.4_Silent_p.I1195I|PTPRB_uc001swd.4_Silent_p.I1282I|PTPRB_uc009zrr.2_Silent_p.I1162I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1065	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGACAGTTAGGATCTGTATCT	0.443000														39			20		0	0	0.000958	0	0
ITGA3	3675	broad.mit.edu	37	17	48151603	48151603	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48151603C>T	uc010dbm.3	+	8	1805	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	ITGA3_uc010dbl.3_Silent_p.D447D	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	447					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCTACCCAGACCTTCTAGTGG	0.537000														99			33		0	0	0.003271	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113559025	113559025	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:113559025C>T	uc010ljy.1	-	0	58	c.27G>A	c.(25-27)caG>caA	p.Q9Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	9					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGCTAATCTGACTAGGTA	0.383000														30			43		0	0	0.002222	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36268736	36268736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36268736C>T	uc002obs.2	+	2	259	c.115C>T	c.(115-117)Cct>Tct	p.P39S	ARHGAP33_uc002obr.2_Missense_Mutation_p.P39S|ARHGAP33_uc002obt.2_5'UTR|ARHGAP33_uc010eek.2_Missense_Mutation_p.P57S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	39					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTCTCAGCTCCTCGAGGCCC	0.607000														59			30		0	0	0.001512	0	0
ZNF551	90233	broad.mit.edu	37	19	58199596	58199596	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58199596C>T	uc002qpw.4	+	2	2128	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	ZNF551_uc002qpv.4_Silent_p.S578S|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAATCCTTTAGCCGCA	0.413000														45			40		0	0	0.002222	0	0
FRMD5	84978	broad.mit.edu	37	15	44166470	44166470	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:44166470C>T	uc001ztl.3	-	13	1503	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	FRMD5_uc001ztj.1_Silent_p.L115L|FRMD5_uc001ztk.1_Silent_p.L348L|FRMD5_uc010uef.2_Silent_p.L115L|FRMD5_uc001ztm.3_Silent_p.L115L|FRMD5_uc001ztn.3_Silent_p.L208L	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	442						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAAGCAACATCAGCTCCAGGC	0.587000														30			16		0	0	0.004007	0	0
NLRC5	84166	broad.mit.edu	37	16	57113139	57113139	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:57113139G>A	uc021tiu.1	+	43	5299	c.5172G>A	c.(5170-5172)gcG>gcA	p.A1724A	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Silent_p.A266A|NLRC5_uc002ekr.1_Silent_p.A611A	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1724					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCAGCTTGGCGGAAAACAACC	0.617000														30			20		0	0	0.003330	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871842	51871842	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:51871842G>A	uc002xwo.3	+	1	2732	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	TSHZ2_uc021wex.1_Silent_p.G612G	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	615					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGAGTGTGGGAAAGAAAGTC	0.507000														39			73		0	0	0.003610	0	0
MLL2	8085	broad.mit.edu	37	19	36214803	36214803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36214803C>T	uc021usv.1	+	7	3229	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	839	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAAGTCAGCTCGGCGCTGCGT	0.721000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			7		0	0	0.001984	0	0
CNTN5	53942	broad.mit.edu	37	11	99690344	99690344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:99690344C>T	uc001pga.3	+	3	629	c.125C>T	c.(124-126)tCt>tTt	p.S42F	CNTN5_uc009ywv.2_Missense_Mutation_p.S42F|CNTN5_uc001pfz.3_Missense_Mutation_p.S42F|CNTN5_uc021qpb.1_Missense_Mutation_p.S42F|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	42					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.S42C(3)		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)		AAGAGTTCATCTTCATCTCTC	0.403000														94			19		0	0	0.001216	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190478	32190478	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32190478G>A	uc003obb.3	-	2	400	c.261C>T	c.(259-261)ccC>ccT	p.P87P	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.P87P	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	87	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGCCCTAGGGGAGCGGGAA	0.622000														197			134		0	0	0.003610	0	0
UBXN4	23190	broad.mit.edu	37	2	136533860	136533860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:136533860C>T	uc002tur.3	+	9	1303	c.992C>T	c.(991-993)tCc>tTc	p.S331F	UBXN4_uc002tus.3_Missense_Mutation_p.S97F|UBXN4_uc002tut.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	331	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GATGGTTCTTCCTTTACAAAT	0.358000														37			25		0	0	0.002445	0	0
CDH10	1008	broad.mit.edu	37	5	24593471	24593471	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:24593471C>T	uc003jgr.2	-	1	635	c.129G>A	c.(127-129)agG>agA	p.R43R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	43					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCCATCACTCCTTGGTACAC	0.408000										HNSCC(23;0.051)				94			49		0	0	0.003610	0	0
C4BPA	722	broad.mit.edu	37	1	207300223	207300223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207300223C>T	uc001hfo.3	+	6	1066	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	291	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AATCCTTCTCCTCCTGCTTGT	0.403000														55			27		0	0	0.002836	0	0
OR56B4	196335	broad.mit.edu	37	11	6129543	6129543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6129543G>A	uc010qzx.2	+	0	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCAGGAATGAAATCGAGCA	0.483000														61			50		0	0	0.003610	0	0
WT1	7490	broad.mit.edu	37	11	32414222	32414222	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:32414222C>T	uc001mtn.2	-	7	1519	c.1329G>A	c.(1327-1329)agG>agA	p.R443R	WT1_uc001mtl.2_Silent_p.R231R|WT1_uc001mtm.2_Silent_p.R214R|WT1_uc001mto.2_Silent_p.R443R|WT1_uc001mtq.2_Silent_p.R426R|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	375					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.M442fs*9(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTGTATGTCTCCTTTGGTGTC	0.438000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					36			20		0	0	0.002299	0	0
OR5M9	390162	broad.mit.edu	37	11	56230088	56230088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56230088C>T	uc010rjj.2	-	0	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCTACGGATTCCTCAGTGGGT	0.473000														28			17		0	0	0.000743	0	0
MIA2	117153	broad.mit.edu	37	14	39716574	39716574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:39716574G>A	uc001wux.3	+	3	990	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MIA2_uc010amy.2_Missense_Mutation_p.E197K	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	266						extracellular region		p.E266D(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGACCTAGAGGAATTAAATAA	0.388000														9			28		0	0	0.005443	0	0
LCT	3938	broad.mit.edu	37	2	136570403	136570403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:136570403G>A	uc002tuu.1	-	6	1842	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	611	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)		GGCCTCTCTGGAGACAGGGGT	0.587000														21			8		0	0	0.000673	0	0
OGDHL	55753	broad.mit.edu	37	10	50960259	50960259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50960259C>T	uc009xog.3	-	3	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	OGDHL_uc001jie.3_Missense_Mutation_p.E172K|OGDHL_uc010qgt.2_Missense_Mutation_p.E115K|OGDHL_uc010qgu.2_5'UTR|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	172					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						AGCTGGAACTCCTTATCAAGG	0.617000														27			14		0	0	0.004007	0	0
SLFN11	91607	broad.mit.edu	37	17	33679994	33679994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33679994C>T	uc002hjg.4	-	4	2334	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	SLFN11_uc010ctr.3_Missense_Mutation_p.G696E|SLFN11_uc010ctp.3_Missense_Mutation_p.G696E|SLFN11_uc010ctq.3_Missense_Mutation_p.G696E|SLFN11_uc002hjh.4_Missense_Mutation_p.G696E	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	696						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGAGAATTCCTGGGCCACC	0.498000														13			87		0	0	0.003610	0	0
A2ML1	144568	broad.mit.edu	37	12	9004564	9004564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:9004564C>T	uc001quz.4	+	18	2517	c.2419C>T	c.(2419-2421)Cgt>Tgt	p.R807C	A2ML1_uc001qva.1_Missense_Mutation_p.R387C|A2ML1_uc010sgm.2_Missense_Mutation_p.R307C	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	651						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGAATCCTTTCGTCTTACTGC	0.507000														89			49		0	0	0.003610	0	0
SMPX	23676	broad.mit.edu	37	X	21761903	21761903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:21761903G>A	uc004daa.3	-	2	328	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	SMPX_uc022btv.1_Non-coding_Transcript	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.	33					striated muscle contraction					breast(1)|endometrium(1)	2						TTTCTTCTGGGGGGTTGACCT	0.443000														12			48		0	0	0.003610	0	0
KIAA0020	9933	broad.mit.edu	37	9	2831320	2831320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:2831320G>A	uc003zhp.1	-	5	637	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	KIAA0020_uc003zhq.1_Missense_Mutation_p.R181C	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	181	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding	p.R181P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGGATCACACGAGTTGAATCG	0.338000														17			49		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13753442	13753442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13753442C>T	uc003jfd.2	-	62	10814	c.10772G>A	c.(10771-10773)gGa>gAa	p.G3591E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3591	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3591E(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAATAATTCCATTTTGAAT	0.393000									Kartagener syndrome					62			35		0	0	0.005524	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399064	22399064	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22399064G>A	uc001mqk.3	+	11	1940	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	509					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAGACCCGGAGGAAACAAGTG	0.408000														25			16		0	0	0.003163	0	0
IRF6	3664	broad.mit.edu	37	1	209974688	209974688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:209974688G>A	uc001hhq.2	-	2	375	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	24					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GATGAGCCCAGGGTAGAGGCC	0.572000										HNSCC(57;0.16)				69			46		0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67129814	67129814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67129814C>T	uc002jhw.1	-	5	934	c.759G>A	c.(757-759)atG>atA	p.M253I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	253					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCATCATTTTCATCAAATTCT	0.303000														10			24		0	0	0.004656	0	0
DCST1	149095	broad.mit.edu	37	1	155013989	155013989	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155013989G>A	uc001fgn.2	+	6	762	c.648G>A	c.(646-648)ggG>ggA	p.G216G	DCST1_uc010per.2_Silent_p.G241G|DCST1_uc010pes.2_Silent_p.G191G	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	216						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGACTCAGGGGAGACAGCCC	0.592000														36			18		0	0	0.000743	0	0
CHN2	1124	broad.mit.edu	37	7	29440302	29440302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:29440302C>T	uc003szz.3	+	5	871	c.434C>T	c.(433-435)tCa>tTa	p.S145L	CHN2_uc011jzs.2_Missense_Mutation_p.S220L|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.S110L|CHN2_uc011jzt.2_Missense_Mutation_p.S158L|CHN2_uc010kvd.3_Intron|CHN2_uc011jzu.2_Missense_Mutation_p.S130L	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	145					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGTACATTTCAAAAATGACA	0.408000														27			19		0	0	0.001216	0	0
CCDC171	203238	broad.mit.edu	37	9	15745559	15745559	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:15745559C>T	uc011lmu.2	+	16	2736	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L	CCDC171_uc003zmd.3_Silent_p.L867L|CCDC171_uc003zme.3_Silent_p.L782L|CCDC171_uc003zmf.1_Silent_p.L175L	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	867																	TCAGTTGGCTCACCAGTTCTG	0.353000														37			104		0	0	0.003610	0	0
SLIT1	6585	broad.mit.edu	37	10	98807587	98807587	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98807587C>T	uc001kmw.2	-	15	1746	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	SLIT1_uc009xvh.1_Silent_p.T508T	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	498					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTAATCCTCCGTGCCTGCCA	0.652000														15			8		0	0	0.003080	0	0
FBXL13	222235	broad.mit.edu	37	7	102518011	102518011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:102518011C>T	uc003vaq.2	-	15	1965	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.R513Q|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R513Q	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	513								p.R513*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTCACAATTTCGTAAACTCAA	0.323000														92			38		0	0	0.001951	0	0
ZNF551	90233	broad.mit.edu	37	19	58198865	58198865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58198865C>T	uc002qpw.4	+	2	1397	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF551_uc002qpv.4_Nonsense_Mutation_p.R335*|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAATCTCATTCGACATAGAAG	0.423000														57			54		0	0	0.003610	0	0
LOC392232	392232	broad.mit.edu	37	8	73142676	73142676	+	RNA	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73142676A>T	uc022avu.1	-	7		c.956T>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		GTCTTCATCCATTACCAGCTC	0.383000														39			12		0	0	0.004990	0	0
FGL1	2267	broad.mit.edu	37	8	17743010	17743010	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:17743010C>T	uc003wye.3	-	3	870	c.204G>A	c.(202-204)agG>agA	p.R68R	FGL1_uc003wxx.3_Silent_p.R18R|FGL1_uc003wxy.3_Silent_p.R18R|FGL1_uc003wya.3_Silent_p.R18R|FGL1_uc003wyb.3_Silent_p.R18R	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	18					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CCGAAATTTCCCTGCCCATTG	0.353000														12			28		0	0	0.003271	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596130	24596130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24596130C>T	uc011djo.2	-	2	1272	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	KIAA0319_uc011djp.2_Missense_Mutation_p.E213K|KIAA0319_uc003neh.1_Missense_Mutation_p.E258K|KIAA0319_uc011djq.1_Missense_Mutation_p.E249K|KIAA0319_uc011djr.1_Missense_Mutation_p.E258K	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	258					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGATTGTTCCTGGAGCTGA	0.547000														65			43		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196749421	196749421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196749421C>T	uc002utj.4	-	34	5752	c.5651G>A	c.(5650-5652)cGa>cAa	p.R1884Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1884					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						ATTTCGAGTTCGATCTGAAAT	0.353000														12			60		0	0	0.003610	0	0
SCN5A	6331	broad.mit.edu	37	3	38616821	38616821	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38616821G>A	uc021wvo.1	-	18	3685	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I	SCN5A_uc021wvk.1_Silent_p.I1210I|SCN5A_uc021wvl.1_Silent_p.I1157I|SCN5A_uc021wvm.1_Silent_p.I1211I|SCN5A_uc021wvn.1_Silent_p.I1210I|SCN5A_uc021wvp.1_Silent_p.I1211I|SCN5A_uc021wvq.1_Silent_p.I1210I|SCN5A_uc021wvr.1_Silent_p.I1211I|SCN5A_uc021wvs.1_Silent_p.I1211I|SCN5A_uc021wvt.1_Silent_p.I1210I|SCN5A_uc021wvu.1_Silent_p.I1157I|SCN5A_uc021wvv.1_Silent_p.I1211I|SCN5A_uc021wvj.1_Silent_p.I1023I|SCN5A_uc021wvi.1_Silent_p.I1077I|SCN5A_uc021wvw.1_Silent_p.I821I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1211					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)	TCATGAAGATGATGAATGTCT	0.617000														5			8		0	0	0.000978	0	0
ATG2A	23130	broad.mit.edu	37	11	64678737	64678737	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64678737G>A	uc001obx.3	-	9	1354	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	413							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGGTTGGGGGCCATCTTGC	0.627000														31			23		0	0	0.005443	0	0
SEL1L3	23231	broad.mit.edu	37	4	25821492	25821492	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:25821492A>G	uc003gru.4	-	7	1513	c.1361T>C	c.(1360-1362)gTt>gCt	p.V454A		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	454						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATTTCTTGAACCTCAGCACA	0.418000														18			6		0	0	0.001168	0	0
C7orf34	135927	broad.mit.edu	37	7	142636725	142636726	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142636725_142636726CC>TT	uc003wca.2	+	0	123_124	c.82_83CC>TT	c.(82-84)ccc>TTc	p.P28F		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	3						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GTCCATGCCTCCCCTGGCCCCC	0.658000														25			9		0	0	0.004672	0	0
NFATC1	4772	broad.mit.edu	37	18	77171144	77171144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77171144C>T	uc010xfg.2	+	1	1322	c.869C>T	c.(868-870)tCc>tTc	p.S290F	NFATC1_uc002lnc.1_Missense_Mutation_p.S290F|NFATC1_uc010xff.1_Missense_Mutation_p.S290F|NFATC1_uc002lnd.3_Missense_Mutation_p.S290F|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.S290F|NFATC1_uc010xfi.1_Missense_Mutation_p.S277F|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.S277F|NFATC1_uc002lng.3_Missense_Mutation_p.S277F|NFATC1_uc010xfk.2_Missense_Mutation_p.S277F	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	290	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.N290K(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCACGGCTCCCCGCGGGTC	0.687000														13			13		0	0	0.001855	0	0
GALR1	2587	broad.mit.edu	37	18	74980603	74980603	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:74980603C>T	uc002lms.4	+	2	1292	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	265					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGCACCACATCATCCATCTCT	0.557000														70			47		0	0	0.003610	0	0
SF3B3	23450	broad.mit.edu	37	16	70562829	70562829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70562829C>T	uc002ezf.3	+	2	335	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	SNORD111B_uc010cfv.2_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	42					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGAGCTGCTTCGCCCAGACCC	0.473000														21			30		0	0	0.004289	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922487	140922487	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140922487C>T	uc003yvh.2	-	19	3177	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	TRAPPC9_uc003yvj.2_Silent_p.E956E|TRAPPC9_uc010mel.1_Silent_p.E377E|TRAPPC9_uc003yvi.1_Silent_p.E947E	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	956					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTGCCCCTTCTCCCCAGGGG	0.532000														49			20		0	0	0.001882	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580735	234580735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234580735G>A	uc002vus.3	+	0	192	c.155G>A	c.(154-156)gGg>gAg	p.G52E	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.G52E	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	54					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)	ATTCTCAGGGGGCATGAGGTG	0.522000														36			28		0	0	0.001786	0	0
CAMK2G	818	broad.mit.edu	37	10	75608340	75608340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75608340G>A	uc001jvv.2	-	7	651	c.521C>T	c.(520-522)tCc>tTc	p.S174F	CAMK2G_uc001jvs.2_Missense_Mutation_p.S182F|CAMK2G_uc001jvm.2_Missense_Mutation_p.S182F|CAMK2G_uc001jvo.2_Missense_Mutation_p.S182F|CAMK2G_uc001jvp.2_Missense_Mutation_p.S182F|CAMK2G_uc001jvq.2_Missense_Mutation_p.S182F|CAMK2G_uc001jvr.2_Missense_Mutation_p.S182F|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	182	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GACCTCAGGGGACAAGTAACC	0.522000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			5		0	0	0.001168	0	0
RBP4	5950	broad.mit.edu	37	10	95353622	95353622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95353622C>T	uc001kit.3	-	4	610	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	176					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGCACAGCTCCTCCTGCCGC	0.612000														60			32		0	0	0.005524	0	0
CENPF	1063	broad.mit.edu	37	1	214816472	214816472	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:214816472C>T	uc001hkm.3	+	11	4965	c.4791C>T	c.(4789-4791)tgC>tgT	p.C1597C		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1693	2 X 96 AA approximate tandem repeats.		Missing.		DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTTGACTGCCTTAGGAAGC	0.418000														28			13		0	0	0.001368	0	0
ENPP5	59084	broad.mit.edu	37	6	46129479	46129479	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46129479C>A	uc003oxz.1	-	3	1226	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	ENPP5_uc010jzc.1_Missense_Mutation_p.R341L|ENPP5_uc011dvz.1_Missense_Mutation_p.G246C|ENPP5_uc003oya.1_Missense_Mutation_p.G340C	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	340						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTATCGTAACCGTGGTTGCCT	0.358000														212			8		0.000274275	0.000572066	0.004482	1	0
GPR112	139378	broad.mit.edu	37	X	135494424	135494424	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:135494424G>A	uc004ezu.1	+	24	9227	c.8936_splice	c.e24-1	p.G2979_splice	GPR112_uc010nsb.1_Splice_Site_p.G2774_splice	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2979					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)					TCTGGCTTAGGATTCTTCATT	0.468000														4			22		0	0	0.002299	0	0
PXDN	7837	broad.mit.edu	37	2	1677538	1677538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1677538C>T	uc002qxa.3	-	8	959	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PXDN_uc002qxb.1_Missense_Mutation_p.D299N|PXDN_uc002qxc.1_Missense_Mutation_p.D116N	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	299	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGGTCCCATCGTCCAGCAAG	0.498000														25			36		0	0	0.004878	0	0
MSLN	10232	broad.mit.edu	37	16	818649	818649	+	Splice_Site	SNP	G	A	A	rs149124925		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:818649G>A	uc002cjw.2	+	17	1919	c.1808_splice	c.e17-1	p.E603_splice	MSLN_uc002cju.1_Splice_Site_p.E595_splice|MSLN_uc002cjt.1_Splice_Site_p.E595_splice|MSLN_uc010brd.1_Splice_Site_p.E594_splice|MSLN_uc002cjy.1_Missense_Mutation_p.G288S|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	603					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTGTAGAGGCCCTCTCGG	0.697000														18			14		0	0	0.003163	0	0
PROKR1	10887	broad.mit.edu	37	2	68873218	68873218	+	Missense_Mutation	SNP	C	T	T	rs61742478	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:68873218C>T	uc010yqj.2	+	0	425	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	89						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCTGGTCCGCTACAAGAA	0.547000														71			56		0	0	0.003610	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458860	45458860	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:45458860C>T	uc001rol.3	-	0		c.335G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCCAGCTTTTCGCAGTTAGCC	0.458000														4			3		0	0	0.004672	0	0
GPR116	221395	broad.mit.edu	37	6	46830831	46830831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46830831C>T	uc003oyo.3	-	14	2282	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	GPR116_uc011dwj.1_Missense_Mutation_p.E220K|GPR116_uc011dwk.1_Missense_Mutation_p.E94K|GPR116_uc003oyp.3_Missense_Mutation_p.E523K|GPR116_uc003oyq.3_Missense_Mutation_p.E665K|GPR116_uc010jzi.1_Missense_Mutation_p.E337K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	665					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTGATGTTTTCCCCTGTGTTG	0.453000														19			10		0	0	0.000673	0	0
COL21A1	81578	broad.mit.edu	37	6	56033060	56033060	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:56033060G>A	uc003pcs.3	-	5	1294	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.L354L|COL21A1_uc003pcu.1_Silent_p.L354L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	354	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R353H(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)			CTGTTACTAAGAGACGAATTT	0.358000														8			9		0	0	0.000673	0	0
RGPD3	653489	broad.mit.edu	37	2	107041161	107041161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107041161G>A	uc010ywi.1	-	19	3319	c.3262C>T	c.(3262-3264)Ctc>Ttc	p.L1088F		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1088	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCGTTTTTGAGAATTTTTAAG	0.378000														195			141		0	0	0.003610	0	0
C1orf130	400746	broad.mit.edu	37	1	24932124	24932124	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24932124G>A	uc001bjk.2	+	3	296	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	65						integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		GGGAACTAGAGCCCAAGGGCC	0.592000														32			11		0	0	0.000978	0	0
SCN3A	6328	broad.mit.edu	37	2	165970408	165970408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165970408C>T	uc002ucx.3	-	19	4079	c.3587G>A	c.(3586-3588)cGa>cAa	p.R1196Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R1147Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R1147Q|SCN3A_uc002uda.1_Missense_Mutation_p.R1016Q|SCN3A_uc002udb.1_Missense_Mutation_p.R1016Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1196						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCAGGTTTTTCGAAGATTCCA	0.343000														75			32		0	0	0.004289	0	0
GPR162	27239	broad.mit.edu	37	12	6946927	6946927	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:6946927C>T	uc001qra.1	+	12	1774	c.1740C>T	c.(1738-1740)caC>caT	p.H580H	GPR162_uc001qrb.1_Silent_p.H388H|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACCTGAGTCACCCAGTGCACG	0.652000														11			6		0	0	0.000443	0	0
DUOX2	50506	broad.mit.edu	37	15	45389917	45389917	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:45389917G>A	uc001zun.3	-	27	3791	c.3588C>T	c.(3586-3588)ctC>ctT	p.L1196L	DUOX2_uc010bea.3_Silent_p.L1196L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1196	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAGGACCAGGAGCAGAAGCA	0.582000														42			23		0	0	0.005443	0	0
RBMS3	27303	broad.mit.edu	37	3	29476267	29476267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:29476267C>T	uc003cel.3	+	1	479	c.109C>T	c.(109-111)Cct>Tct	p.P37S	RBMS3_uc010hfq.3_Missense_Mutation_p.P37S|RBMS3_uc003cek.3_Missense_Mutation_p.P37S|RBMS3_uc010hfr.3_Missense_Mutation_p.P37S|RBMS3_uc003cem.3_Missense_Mutation_p.P36S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	37						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCCATGGCTCCTCCCAGCCC	0.537000														28			18		0	0	0.001216	0	0
RTN4R	65078	broad.mit.edu	37	22	20229682	20229682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:20229682G>A	uc002zrv.3	-	1	1175	c.974C>T	c.(973-975)aCc>aTc	p.T325I	RTN4R_uc002zru.3_Missense_Mutation_p.T97I	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	325					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CTCCTCATCGGTGGCCCTGCC	0.662000														11			11		0	0	0.001368	0	0
TAP2	6891	broad.mit.edu	37	6	32805562	32805562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32805562G>A	uc011dqf.1	-	1	571	c.449C>T	c.(448-450)cCt>cTt	p.P150L	TAP2_uc003ocb.1_Missense_Mutation_p.P150L|TAP2_uc003occ.3_Missense_Mutation_p.P150L|TAP2_uc003ocd.3_Missense_Mutation_p.P150L	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	150					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AACGAGGAGAGGCAGGTCCGG	0.582000														31			16		0	0	0.004007	0	0
ZNF318	24149	broad.mit.edu	37	6	43308573	43308573	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43308573A>T	uc003oux.3	-	8	3528	c.3450T>A	c.(3448-3450)tcT>tcA	p.S1150S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1150					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTGCTCCCCAGAAATTGGAT	0.418000														33			29		0	0	0.002445	0	0
GPR101	83550	broad.mit.edu	37	X	136112601	136112601	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:136112601G>A	uc011mwh.2	-	0	1233	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	411						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGGCCCCAGGGATAGCACAT	0.522000														7			8		0	0	0.004482	0	0
HDAC9	9734	broad.mit.edu	37	7	18875176	18875176	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:18875176G>A	uc003sui.3	+	18	2594	c.2553G>A	c.(2551-2553)ggG>ggA	p.G851G	HDAC9_uc003sue.3_Silent_p.G848G|HDAC9_uc011jyd.2_Silent_p.G848G|HDAC9_uc003suh.3_Silent_p.G848G|HDAC9_uc003suj.3_Silent_p.G807G|HDAC9_uc003suk.3_Silent_p.G96G	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	848	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGATGAAGGGAACTTTTTCC	0.448000														25			18		0	0	0.004990	0	0
SMOC1	64093	broad.mit.edu	37	14	70461138	70461138	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:70461138G>A	uc001xlt.2	+	6	887	c.605G>A	c.(604-606)tGg>tAg	p.W202*	SMOC1_uc001xls.2_Nonsense_Mutation_p.W202*	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	202					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAACTCTATGGATTAAACAC	0.408000														34			167		0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56424209	56424209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56424209C>T	uc010ygg.2	-	4	999	c.974G>A	c.(973-975)aGc>aAc	p.S325N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	325	NACHT.						ATP binding	p.E324E(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)		ATCATCCAAGCTCTCAGAGCG	0.463000														56			33		0	0	0.002445	0	0
DLX3	1747	broad.mit.edu	37	17	48072064	48072065	+	Missense_Mutation	DNP	TC	CA	CA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48072064_48072065TC>CA	uc002ipy.3	-	0	524_525	c.298_299GA>TG	c.(298-300)gag>TGg	p.E100W		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R99W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGCGGCTGCTCCCGATACGCC	0.624000														5			47		0	0	0.004672	0	0
SSX5	6758	broad.mit.edu	37	X	48047102	48047102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:48047102C>T	uc004diz.1	-	7	708	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	SSX5_uc004dja.1_Missense_Mutation_p.E178K	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATCTCTTCATAAATCACC	0.488000														22			96		0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72680599	72680599	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:72680599G>A	uc001sxa.3	+	1	948	c.918G>A	c.(916-918)gtG>gtA	p.V306V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	306					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATATGCCAGTGGAAACTTCCG	0.403000														75			48		0	0	0.003610	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:56436024C>T	uc003xsf.3	+	2	1223	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	397						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTCGGTTTTCCAGCTGTACT	0.512000														75			90		0	0	0.003610	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:18955510G>A	uc001mpg.3	-	0	1040	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F273S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000														61			19		0	0	0.005443	0	0
CORIN	10699	broad.mit.edu	37	4	47647108	47647108	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47647108C>T	uc003gxm.3	-	13	2040	c.1947G>A	c.(1945-1947)gaG>gaA	p.E649E	CORIN_uc011bzf.2_Silent_p.E510E|CORIN_uc011bzg.2_Silent_p.E582E|CORIN_uc011bzh.1_Silent_p.E612E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	649	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCAGTTTTTCTCGTCCATGT	0.378000														53			32		0	0	0.002096	0	0
CASP10	843	broad.mit.edu	37	2	202074144	202074144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:202074144C>T	uc002uxj.1	+	8	1692	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.S358F|CASP10_uc002uxk.1_Missense_Mutation_p.S382F|CASP10_uc002uxl.2_Missense_Mutation_p.S425F|CASP10_uc002uxm.2_Missense_Mutation_p.S382F	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	425					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCACCCACTTCCCTGCAGGAC	0.532000														55			46		0	0	0.003610	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145436	44145436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44145436G>A	uc002rtr.2	-	27	3056	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	LRPPRC_uc010yob.1_Missense_Mutation_p.L900F	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1000					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCCTCTCTAAGGATTTCTGCT	0.358000														259			217		0	0	0.003610	0	0
ZNF638	27332	broad.mit.edu	37	2	71591276	71591276	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71591276C>T	uc002shx.3	+	4	1934	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	ZNF638_uc010fec.2_Silent_p.S643S|ZNF638_uc010yqw.1_Silent_p.S116S|ZNF638_uc002shw.3_Silent_p.S537S|ZNF638_uc002shz.3_Silent_p.S537S|ZNF638_uc002shy.3_Silent_p.S537S|ZNF638_uc002sia.3_Silent_p.S537S|ZNF638_uc002sib.1_Silent_p.S537S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	537	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GATCCAGATCCAGATCCCGTT	0.438000														23			21		0	0	0.001882	0	0
CASZ1	54897	broad.mit.edu	37	1	10710808	10710808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10710808C>T	uc001aro.3	-	12	3141	c.2821G>A	c.(2821-2823)Gaa>Aaa	p.E941K	CASZ1_uc001arp.1_Missense_Mutation_p.E941K	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCATTTGATTCGTTGCTAGAA	0.597000														47			36		0	0	0.001287	0	0
KIAA0586	9786	broad.mit.edu	37	14	59014655	59014655	+	Silent	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:59014655G>T	uc010trr.2	+	33	5140	c.4896G>T	c.(4894-4896)ggG>ggT	p.G1632G	KIAA0586_uc001xdu.4_3'UTR|KIAA0586_uc010trs.2_3'UTR|KIAA0586_uc001xdt.4_3'UTR|KIAA0586_uc001xdv.4_3'UTR	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGAACGGGAAGAGACAGC	0.483000														7			42		1.46156e-29	3.08578e-29	0.003610	1	0
COL9A1	1297	broad.mit.edu	37	6	70979353	70979353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:70979353G>A	uc003pfg.4	-	15	1372	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.H162Y	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	405	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTCCATCATGAAAGCCAATT	0.299000														49			26		0	0	0.002445	0	0
TAL1	6886	broad.mit.edu	37	1	47685395	47685395	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47685395C>T	uc001cqx.2	-	3	1570	c.993G>A	c.(991-993)cgG>cgA	p.R331R	TAL1_uc009vyq.2_Missense_Mutation_p.G88D|TAL1_uc001cqy.2_Silent_p.R331R	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	331					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						AGACCCATCACCGAGGGCCGG	0.682000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									24			21		0	0	0.001061	0	0
CDH9	1007	broad.mit.edu	37	5	26881298	26881298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26881298G>A	uc003jgs.1	-	11	2486	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	CDH9_uc011cnv.1_Missense_Mutation_p.R366C	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	773					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P772T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTTGAAACGAGGCCCCCAG	0.408000														69			33		0	0	0.002445	0	0
ZNF430	80264	broad.mit.edu	37	19	21240107	21240107	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:21240107C>T	uc002npj.3	+	4	1174	c.993C>T	c.(991-993)caC>caT	p.H331H	ZNF430_uc002npk.3_Silent_p.H330H	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	331					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						GGTCCTCACACCTTACTACAC	0.398000														30			21		0	0	0.001523	0	0
UNC79	57578	broad.mit.edu	37	14	94046624	94046624	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94046624G>C	uc001ybv.1	+	15	2115	c.2032G>C	c.(2032-2034)Gca>Cca	p.A678P	UNC79_uc001ybs.1_Missense_Mutation_p.A678P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	855						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						GGACGAAAAAGCAATCGAGTG	0.473000														9			61		0	0	0.003610	0	0
POLK	51426	broad.mit.edu	37	5	74848301	74848301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:74848301C>T	uc003kdw.3	+	2	236	c.140C>T	c.(139-141)tCc>tTc	p.S47F	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kdz.2_Missense_Mutation_p.S47F|POLK_uc003kea.3_Missense_Mutation_p.S47F|POLK_uc003keb.3_Missense_Mutation_p.S47F|POLK_uc010izq.3_Missense_Mutation_p.S47F|POLK_uc003kec.3_5'UTR|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_5'UTR|POLK_uc003kee.3_Missense_Mutation_p.S47F	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	47					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCATAGGGGTCCAGATTTTAT	0.383000								DNA polymerases (catalytic subunits)						12			18		0	0	0.000743	0	0
ZNF486	90649	broad.mit.edu	37	19	20308543	20308543	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:20308543A>C	uc002nou.2	+	3	1081	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAAACATGAGAAGATTCATAC	0.398000														17			10		0	0	0.000673	0	0
MED23	9439	broad.mit.edu	37	6	131931276	131931276	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:131931276G>A	uc003qcs.1	-	10	1161	c.987C>T	c.(985-987)ctC>ctT	p.L329L	MED23_uc003qcq.3_Silent_p.L335L|MED23_uc011eca.1_Silent_p.L18L|MED23_uc003qct.1_Silent_p.L335L|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	329					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.L329L(2)|p.L335L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCTGCCACAGGAGTTGGCTTG	0.483000														30			21		0	0	0.004656	0	0
LRFN2	57497	broad.mit.edu	37	6	40360132	40360132	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:40360132C>T	uc003oph.1	-	2	2385	c.1920G>A	c.(1918-1920)tgG>tgA	p.W640*		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	640						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)					GTGGGATCCTCCAGGGGGCCC	0.706000														3			5		0	0	0.000602	0	0
SNIP1	79753	broad.mit.edu	37	1	38006000	38006000	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:38006000A>T	uc001cbi.3	-	2	757	c.684T>A	c.(682-684)ctT>ctA	p.L228L	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	228					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTGCCCCAGAAAGTTCAAAGC	0.507000														43			22		0	0	0.002780	0	0
DGKZ	8525	broad.mit.edu	37	11	46388891	46388891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:46388891C>T	uc001ncn.1	+	2	904	c.779C>T	c.(778-780)aCc>aTc	p.T260I	DGKZ_uc001nch.2_Missense_Mutation_p.T88I|DGKZ_uc010rgq.2_Missense_Mutation_p.T76I|DGKZ_uc010rgr.2_Missense_Mutation_p.T76I|DGKZ_uc001ncj.2_Missense_Mutation_p.T37I|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.T71I|DGKZ_uc001ncl.2_Missense_Mutation_p.T71I|DGKZ_uc009yky.1_Missense_Mutation_p.T71I|DGKZ_uc010rgs.1_Missense_Mutation_p.T71I|DGKZ_uc001nci.2_Missense_Mutation_p.T76I	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	260	Poly-Pro.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTCCGCCCACCCCTGGGGCC	0.662000														15			12		0	0	0.004007	0	0
GRID2	2895	broad.mit.edu	37	4	94031935	94031935	+	Missense_Mutation	SNP	C	T	T	rs142718797	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:94031935C>T	uc011cdt.2	+	3	824	c.566C>T	c.(565-567)tCt>tTt	p.S189F	GRID2_uc010ikx.3_Missense_Mutation_p.S189F|GRID2_uc011cdu.2_Missense_Mutation_p.S94F|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	189					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GACAAAGTCTCTCAGCAGGGA	0.393000														83			62		0	0	0.003610	0	0
ALLC	55821	broad.mit.edu	37	2	3721680	3721680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:3721680G>A	uc010ewt.3	+	2	210	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	36							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATTTGCAACAGATGACTTTTT	0.323000										HNSCC(21;0.051)				4			7		0	0	0.004482	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162788	12162788	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:12162788C>T	uc001ild.4	+	16	2760	c.2661C>T	c.(2659-2661)ctC>ctT	p.L887L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	887					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACTTATAGCTCCGTCTGGTGG	0.473000														195			105		0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215855735	215855735	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215855735C>T	uc002vew.3	-	23	3535	c.3315G>A	c.(3313-3315)gtG>gtA	p.V1105V	ABCA12_uc002vev.3_Silent_p.V787V|ABCA12_uc010zjn.2_Silent_p.V32V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1105					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCAGGAGTTCACACCCATCA	0.363000														31			19		0	0	0.002299	0	0
INPP5D	3635	broad.mit.edu	37	2	234079718	234079718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234079718G>A	uc010zmo.2	+	15	1975	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	INPP5D_uc010zmp.2_Missense_Mutation_p.E607K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	637					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAGGAGGAAGAAATCACGTT	0.463000														11			6		0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21234511	21234511	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21234511C>A	uc002red.3	-	25	5357	c.5229G>T	c.(5227-5229)atG>atT	p.M1743I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1743					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATATGAGCCCATCATGTCAT	0.413000														738			13		0.00400662	0.00832486	0.004007	1	0
FRMD1	79981	broad.mit.edu	37	6	168461500	168461500	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:168461500T>A	uc003qwo.4	-	8	1348	c.1283A>T	c.(1282-1284)gAg>gTg	p.E428V	FRMD1_uc003qwm.4_Missense_Mutation_p.E222V|FRMD1_uc011egs.2_Missense_Mutation_p.E199V|FRMD1_uc011egt.2_Missense_Mutation_p.E363V|FRMD1_uc003qwn.4_Missense_Mutation_p.E360V	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	428						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAGGACGGCTCCTTCTCATG	0.637000														12			15		0	0	0.003163	0	0
GPR137	56834	broad.mit.edu	37	11	64056676	64056676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64056676C>T	uc010rni.2	+	8	1295	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P365S|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	365						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGATCCCCCTCCCTCCCCCAC	0.647000														18			19		0	0	0.001216	0	0
IFT27	11020	broad.mit.edu	37	22	37154424	37154424	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37154424G>A	uc003apv.2	-	6	913	c.492C>T	c.(490-492)ttC>ttT	p.F164F	IFT27_uc021won.1_Silent_p.F123F|IFT27_uc003apu.2_Silent_p.F163F|IFT27_uc021woo.1_Non-coding_Transcript|IFT27_uc003apw.2_3'UTR	NM_001177701	NP_001171173	Q9BW83	IFT27_HUMAN	Homo sapiens intraflagellar transport 27 homolog (Chlamydomonas) (IFT27), transcript variant 1, mRNA.	164					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAAGGCAGTGGAAAGGGGCTT	0.532000											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			28		0	0	0.001786	0	0
ITGB1	3688	broad.mit.edu	37	10	33190554	33190554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:33190554G>A	uc001iws.4	-	15	2477	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	ITGB1_uc001iwr.4_3'UTR|ITGB1_uc001iwt.4_Missense_Mutation_p.P781S	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	781					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTATAAATAGGATTTTCACCC	0.338000														38			34		0	0	0.002852	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136374	103136374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103136374G>A	uc002tbz.4	+	8	2235	c.1778G>A	c.(1777-1779)aGg>aAg	p.R593K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	593					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						GAGTCCATAAGGGACATTCTG	0.438000														26			18		0	0	0.001882	0	0
WNT7A	7476	broad.mit.edu	37	3	13860868	13860868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:13860868G>A	uc003bye.1	-	3	928	c.623C>T	c.(622-624)tCg>tTg	p.S208L		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	208					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTGGTGCACGAGCCTGACAC	0.602000														51			38		0	0	0.001287	0	0
CCDC158	339965	broad.mit.edu	37	4	77303806	77303806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77303806G>A	uc003hkb.4	-	6	1024	c.871C>T	c.(871-873)Cga>Tga	p.R291*	CCDC158_uc003hkd.3_Nonsense_Mutation_p.R291*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	291										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTTGGCTTCGAGCACTGCTA	0.333000														46			30		0	0	0.002836	0	0
TACR3	6870	broad.mit.edu	37	4	104579461	104579461	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:104579461G>A	uc003hxe.1	-	1	789	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	216						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)		GACACTGAGGGAAGGCAAGTA	0.423000														34			27		0	0	0.001512	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043299	71043299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71043299G>A	uc002shf.3	-	3	1291	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	CLEC4F_uc010yqv.1_Missense_Mutation_p.S405F	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	405					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGGGTCTGGGAAGTTAAGGC	0.443000														36			24		0	0	0.002299	0	0
TBX20	57057	broad.mit.edu	37	7	35242131	35242131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:35242131G>A	uc011kas.2	-	7	1735	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	419						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGGTATCGCGGCATGTGGAAT	0.522000														4			11		0	0	0.000673	0	0
GJA10	84694	broad.mit.edu	37	6	90604403	90604403	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90604403C>T	uc011eaa.2	+	0	216	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	72					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CATTCCCTATCTCTTTGATCA	0.463000														23			16		0	0	0.003163	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982967	92982967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:92982967C>T	uc022axs.1	-	10	1822	c.1635G>A	c.(1633-1635)atG>atA	p.M545I	RUNX1T1_uc003yfc.2_Missense_Mutation_p.M459I|RUNX1T1_uc010mam.3_Missense_Mutation_p.M459I|RUNX1T1_uc003yfe.2_Missense_Mutation_p.M449I|RUNX1T1_uc003yfd.3_Missense_Mutation_p.M486I|RUNX1T1_uc022axo.1_Missense_Mutation_p.M486I|RUNX1T1_uc010mao.3_Missense_Mutation_p.M459I|RUNX1T1_uc011lgi.2_Missense_Mutation_p.M497I|RUNX1T1_uc022axp.1_Missense_Mutation_p.M486I|RUNX1T1_uc022axq.1_Missense_Mutation_p.M486I|RUNX1T1_uc022axr.1_Missense_Mutation_p.M486I|RUNX1T1_uc022axt.1_Missense_Mutation_p.M486I|RUNX1T1_uc022axu.1_Missense_Mutation_p.M466I|RUNX1T1_uc022axv.1_Missense_Mutation_p.M486I|RUNX1T1_uc010man.2_Missense_Mutation_p.M111I|RUNX1T1_uc003yfb.2_Missense_Mutation_p.M449I	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.	486					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)			CCGTGCGCTCCATCTTGGCCC	0.612000														34			18		0	0	0.003954	0	0
COL4A4	1286	broad.mit.edu	37	2	227953465	227953465	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227953465C>T	uc021vxr.1	-	20	1628	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	COL4A4_uc021vxs.1_Silent_p.G509G	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	509	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGCCTCCCAGGAAGTC	0.587000														26			28		0	0	0.001271	0	0
BBS9	27241	broad.mit.edu	37	7	33296886	33296886	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:33296886C>T	uc003tdn.1	+	5	994	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	BBS9_uc003tdo.1_Silent_p.L161L|BBS9_uc003tdp.1_Silent_p.L161L|BBS9_uc003tdq.1_Silent_p.L161L|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Silent_p.L161L|BBS9_uc011kao.1_Silent_p.L39L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	161					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GGATGGGATGCTGATGGTATT	0.363000									Bardet-Biedl syndrome					26			21		0	0	0.005443	0	0
NCAM1	4684	broad.mit.edu	37	11	113141059	113141059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:113141059G>A	uc021qqp.1	+	17	2719	c.2347G>A	c.(2347-2349)Gga>Aga	p.G783R	NCAM1_uc001pnq.3_Missense_Mutation_p.G757R|NCAM1_uc001pnr.3_Missense_Mutation_p.G747R|NCAM1_uc001pns.3_Missense_Mutation_p.G141R|LOC100288346_uc021qqr.1_Non-coding_Transcript|NCAM1_uc001pnt.3_5'Flank	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	761					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACCTGTGTGGAAAAGCCGG	0.592000														40			22		0	0	0.002299	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716769	13716769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:13716769C>T	uc001rbt.2	-	12	3582	c.3403G>A	c.(3403-3405)Gac>Aac	p.D1135N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1135					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGAACTGGTCCAGGTAGAAG	0.592000														23			13		0	0	0.002450	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248616137C>T	uc001iek.1	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F13V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCACTAACTTCGTCCTCACAG	0.507000														115			44		0	0	0.003610	0	0
KTN1	3895	broad.mit.edu	37	14	56134036	56134036	+	Silent	SNP	C	T	T	rs144185879		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:56134036C>T	uc001xcb.3	+	34	3557	c.3255C>T	c.(3253-3255)gtC>gtT	p.V1085V	KTN1_uc001xcc.3_Silent_p.V1085V|KTN1_uc001xcd.3_Silent_p.V1062V|KTN1_uc001xce.3_Silent_p.V1056V|KTN1_uc010trb.2_Silent_p.V1085V|KTN1_uc001xcf.1_Silent_p.V1062V|KTN1_uc010aoq.3_Silent_p.V351V|KTN1_uc010trc.2_Silent_p.V90V|KTN1_uc001xcg.3_Silent_p.V46V	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1085					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTGTCTGTCCCTTCTAATT	0.358000			T	RET	papillary thryoid									18			69		0	0	0.003610	0	0
C16orf78	123970	broad.mit.edu	37	16	49412446	49412446	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:49412446G>A	uc002efr.3	+	2	379	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	112										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGAGCAAAAGGGGAAACACC	0.562000														14			9		0	0	0.000673	0	0
EWSR1	2130	broad.mit.edu	37	22	29694761	29694761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:29694761C>T	uc003aet.3	+	13	1784	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	EWSR1_uc003aev.3_Missense_Mutation_p.R491C|EWSR1_uc003aex.3_Missense_Mutation_p.R485C|EWSR1_uc003aew.3_Missense_Mutation_p.R430C|EWSR1_uc003aey.3_Missense_Mutation_p.R281C|EWSR1_uc003aez.3_Missense_Mutation_p.R147C	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	486	Arg/Gly/Pro-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						ACCCATGGGTCGCATGGGAGG	0.577000			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"""									59			37		0	0	0.003214	0	0
RAB39A	54734	broad.mit.edu	37	11	107832799	107832799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:107832799C>T	uc001pjt.3	+	1	373	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_017516	NP_059986	Q14964	RB39A_HUMAN	Homo sapiens RAB39A, member RAS oncogene family (RAB39A), mRNA.	119					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.R119W(1)									ACAGCCATTTCGGATTGTATT	0.378000														28			23		0	0	0.001882	0	0
TNXB	7148	broad.mit.edu	37	6	32020708	32020708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32020708C>T	uc003nzl.2	-	25	9050	c.8848G>A	c.(8848-8850)Gag>Aag	p.E2950K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2997	Fibronectin type-III 21.				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						AGGAGCGGCTCCTCAGGGGGC	0.652000														147			82		0	0	0.003610	0	0
NXF3	56000	broad.mit.edu	37	X	102333497	102333497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:102333497C>T	uc004eju.3	-	16	1513	c.1442G>A	c.(1441-1443)aGc>aAc	p.S481N	NXF3_uc010noi.1_Silent_p.Q327Q	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	481	NTF2.|Poly-Ser.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTGGAACTGCTGCCAGGGGT	0.547000														7			47		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13814719	13814719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13814719G>A	uc003jfd.2	-	42	7267	c.7225C>T	c.(7225-7227)Ctt>Ttt	p.L2409F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2409	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATACCTCAAGAATAGGACTC	0.378000									Kartagener syndrome					16			16		0	0	0.003163	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183908	19183908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:19183908G>A	uc001bba.1	-	1	401	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	134					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCACCACACGGGAAATGTAG	0.552000														37			25		0	0	0.002780	0	0
COL14A1	7373	broad.mit.edu	37	8	121267517	121267517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121267517G>A	uc003yox.3	+	22	3056	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	COL14A1_uc003yoy.3_Missense_Mutation_p.E609K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	931	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.E931K(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAAACATGTTGAAATGACCAG	0.463000														51			83		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	22	22724416	22724416	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:22724416G>A	uc021wml.1	+	44		c.5277G>A								Parts of antibodies, mostly variable regions.																		CTGAGGATGAGGCTGAGTATT	0.562000														11			10		0	0	0.001368	0	0
ADCY1	107	broad.mit.edu	37	7	45753491	45753491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45753491G>A	uc003tne.4	+	19	3275	c.3257G>A	c.(3256-3258)cGt>cAt	p.R1086H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1086					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)	CAGGGCAGACGTCCCCCCGTG	0.617000														26			20		0	0	0.001216	0	0
KIF18A	81930	broad.mit.edu	37	11	28058204	28058204	+	Silent	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:28058204A>C	uc001msc.2	-	13	2138	c.1956T>G	c.(1954-1956)tcT>tcG	p.S652S		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	652					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTCCACCTGAAGATGAGCCTA	0.333000														19			20		0	0	0.001216	0	0
PION	54103	broad.mit.edu	37	7	76942809	76942809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:76942809G>A	uc003ugf.3	-	27	2346	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	PION_uc011kgo.2_Missense_Mutation_p.P77L|PION_uc003ugd.3_Missense_Mutation_p.P150L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	756					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATTACCGGAGGAAGCCGCAC	0.343000														27			6		0	0	0.004482	0	0
PARP1	142	broad.mit.edu	37	1	226555974	226555974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:226555974G>A	uc001hqd.4	-	15	2374	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	735	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGTAAAAGCGATTTGAGAGA	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						32			19		0	0	0.002780	0	0
OR8I2	120586	broad.mit.edu	37	11	55860955	55860955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55860955C>T	uc010rix.2	+	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCTTCACACCCCTATGTACTT	0.378000														98			57		0	0	0.003610	0	0
ADCY4	196883	broad.mit.edu	37	14	24800553	24800553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:24800553G>A	uc001wow.3	-	4	1098	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Missense_Mutation_p.L227F|ADCY4_uc001woy.3_Missense_Mutation_p.L227F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	227					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGGACAAGAGAAGGTGTTCC	0.577000														5			20		0	0	0.002299	0	0
DSC2	1824	broad.mit.edu	37	18	28649050	28649050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28649050C>T	uc002kwl.4	-	14	2772	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	DSC2_uc002kwk.4_Missense_Mutation_p.G773E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	773					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GATTCCTGATCCCACGGTGCC	0.517000														37			21		0	0	0.001882	0	0
PPM1G	5496	broad.mit.edu	37	2	27606282	27606282	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:27606282G>A	uc002rkl.3	-	6	1359	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	ZNF513_uc002rkj.3_5'Flank|ZNF513_uc002rkk.3_5'Flank|PPM1G_uc002rkm.3_Silent_p.V165V	NM_177983	NP_817092	O15355	PPM1G_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA.	384					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCCATGGTGACCTTGCCAC	0.512000														72			38		0	0	0.003214	0	0
DNMBP	23268	broad.mit.edu	37	10	101648593	101648593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:101648593A>G	uc001kqj.2	-	11	3366	c.3274T>C	c.(3274-3276)Ttc>Ctc	p.F1092L	DNMBP_uc010qpl.1_Missense_Mutation_p.F28L|DNMBP_uc001kqg.2_Missense_Mutation_p.F380L|DNMBP_uc001kqh.2_Missense_Mutation_p.F724L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1092	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGTTTGTGAAGAGCTGGTCA	0.512000														21			12		0	0	0.003163	0	0
CCND2	894	broad.mit.edu	37	12	4409166	4409166	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:4409166C>T	uc001qmo.3	+	4	1166	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	287					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TGCGGGATATCGACCTGTGAG	0.517000			T	IGL@	"""NHL,CLL"""									22			10		0	0	0.000673	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723465	7723465	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:7723465C>T	uc001aoi.3	+	8	1065	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCGCATCATCTCGCCCAAGG	0.632000			T	WWTR1	epitheliod hemangioendothelioma									72			45		0	0	0.003610	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761354	92761354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92761354C>T	uc003umh.1	-	4	5147	c.3931G>A	c.(3931-3933)Gat>Aat	p.D1311N	SAMD9L_uc003umj.1_Missense_Mutation_p.D1311N|SAMD9L_uc003umi.1_Missense_Mutation_p.D1311N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D1311N|SAMD9L_uc003umk.1_Missense_Mutation_p.D1311N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D1311N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D1311N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D1311N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1311								p.L1310L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGACATGGATCCAAATGACAG	0.378000														9			131		0	0	0.003610	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310764	75310764	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75310764G>A	uc002azn.2	+	5	612	c.425G>A	c.(424-426)tGg>tAg	p.W142*	SCAMP5_uc002azl.2_Nonsense_Mutation_p.W134*|SCAMP5_uc002azm.2_Nonsense_Mutation_p.W134*|SCAMP5_uc002azk.2_Nonsense_Mutation_p.W134*|SCAMP5_uc010uly.2_Nonsense_Mutation_p.W63*	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	134					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGCAGCGGCTGGATTGCTACC	0.587000														56			41		0	0	0.002522	0	0
CHD2	1106	broad.mit.edu	37	15	93557966	93557966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:93557966C>T	uc002bsp.3	+	36	5308	c.4733C>T	c.(4732-4734)cCa>cTa	p.P1578L	CHD2_uc002bso.1_Missense_Mutation_p.P1578L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1578					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGTAAGAAACCATTTCGTCCA	0.502000														40			32		0	0	0.002836	0	0
C19orf57	79173	broad.mit.edu	37	19	13996861	13996861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13996861G>A	uc002mxl.1	-	6	1735	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	C19orf57_uc002mxk.1_Missense_Mutation_p.P441L	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	559					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTTCCCCGAAGGAAAGAGCTG	0.622000														20			15		0	0	0.004007	0	0
PIPSL	266971	broad.mit.edu	37	10	95718736	95718736	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95718736C>T	uc009xuj.2	-	0	2937	c.2418G>A	c.(2416-2418)aaG>aaA	p.K806K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CATCCTCCTCCTTGGCTGGCT	0.527000														23			16		0	0	0.000743	0	0
LMX1A	4009	broad.mit.edu	37	1	165182914	165182914	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165182914C>A	uc001gcz.2	-	4	827	c.633G>T	c.(631-633)aaG>aaT	p.K211N	LMX1A_uc021pdz.1_Missense_Mutation_p.K211N|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAAATGAGGCCTTGAATGCTC	0.562000														70			109		3.39137e-47	7.16311e-47	0.003610	1	0
PHF3	23469	broad.mit.edu	37	6	64395690	64395690	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:64395690C>T	uc003pep.1	+	2	2092	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	PHF3_uc010kaf.1_Silent_p.F689F|PHF3_uc003pem.2_Silent_p.F642F|PHF3_uc010kag.1_Silent_p.F601F|PHF3_uc010kah.1_Silent_p.F503F|PHF3_uc003pen.2_Silent_p.F601F|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Silent_p.F689F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	689					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACCATTGTTCATTCCAGATA	0.408000														22			24		0	0	0.002780	0	0
OR2T10	127069	broad.mit.edu	37	1	248756989	248756989	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248756989G>A	uc010pzn.2	-	0	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TAAGCAAGCAGAGGCGGCCAG	0.478000														29			27		0	0	0.001061	0	0
FN1	2335	broad.mit.edu	37	2	216271221	216271221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:216271221G>A	uc002vfa.3	-	18	2992	c.2726C>T	c.(2725-2727)tCt>tTt	p.S909F	FN1_uc002vfc.3_Missense_Mutation_p.S909F|FN1_uc002vfe.3_Missense_Mutation_p.S909F|FN1_uc002vff.3_Missense_Mutation_p.S909F|FN1_uc002vfg.3_Missense_Mutation_p.S909F|FN1_uc002vfh.3_Missense_Mutation_p.S909F|FN1_uc002vfi.3_Missense_Mutation_p.S909F|FN1_uc002vfj.3_Missense_Mutation_p.S909F|FN1_uc002vfb.3_Missense_Mutation_p.S909F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	909	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCCTGGGAGAGGGCACTGT	0.493000														13			5		0	0	0.000602	0	0
SYT16	83851	broad.mit.edu	37	14	62536444	62536444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:62536444G>A	uc001xfu.1	+	1	844	c.647G>A	c.(646-648)gGa>gAa	p.G216E	SYT16_uc010tsd.1_Missense_Mutation_p.G216E	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	216								p.G216*(1)		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)		TCTGAGAAAGGAAAGCAGACA	0.488000														12			62		0	0	0.003610	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364455	142364455	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142364455G>A	uc003vzx.3	+	1	124	c.90G>A	c.(88-90)agG>agA	p.R30R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGGAATAGGATCACAAAGA	0.458000														4			3		0	0	0.000248	0	0
FHDC1	85462	broad.mit.edu	37	4	153897156	153897156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:153897156G>A	uc003inf.2	+	10	2788	c.2713G>A	c.(2713-2715)Gtc>Atc	p.V905I		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	905					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CATGCGCAAGGTCATGCCCAT	0.687000														18			15		0	0	0.003163	0	0
RORB	6096	broad.mit.edu	37	9	77257394	77257394	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:77257394C>T	uc004aji.3	+	3	382	c.333C>T	c.(331-333)caC>caT	p.H111H	RORB_uc004ajh.3_Silent_p.H100H	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	111	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						Tgcagaagcaccagcagcggc	0.567000														9			54		0	0	0.003610	0	0
ATP2A1	487	broad.mit.edu	37	16	28892244	28892244	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:28892244C>T	uc002dro.1	+	3	412	c.228C>T	c.(226-228)gcC>gcT	p.A76A	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.A76A|ATP2A1_uc002drp.1_5'UTR	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	76					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGGTGCTGGCCTGGTTTGAGG	0.522000														33			26		0	0	0.005443	0	0
GDPD4	220032	broad.mit.edu	37	11	76980047	76980047	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:76980047C>T	uc001oyf.3	-	7	797	c.546G>A	c.(544-546)ggG>ggA	p.G182G		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	182					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GAGAATAAATCCCCAGTGGCA	0.463000														36			34		0	0	0.002096	0	0
GPBP1	65056	broad.mit.edu	37	5	56542231	56542231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:56542231C>T	uc003jrk.4	+	5	661	c.604C>T	c.(604-606)Ccg>Tcg	p.P202S	GPBP1_uc003jrh.4_Missense_Mutation_p.P195S|GPBP1_uc003jri.4_Missense_Mutation_p.P24S|GPBP1_uc003jrj.4_Missense_Mutation_p.P202S|GPBP1_uc021xyv.1_Missense_Mutation_p.P24S	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGGAAATCTTCCGTCACAGCC	0.408000														10			18		0	0	0.004990	0	0
TLR2	7097	broad.mit.edu	37	4	154626225	154626225	+	Silent	SNP	C	T	T	rs150753690		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154626225C>T	uc003inq.3	+	2	2385	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	TLR2_uc003inr.3_Silent_p.F722F|TLR2_uc003ins.3_Silent_p.F722F|TLR2_uc021xtl.1_Silent_p.F722F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	722	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCCCATTTCCGTCTTTTTG	0.433000														76			43		0	0	0.002222	0	0
TRIM22	10346	broad.mit.edu	37	11	5730469	5730469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5730469G>A	uc001mbr.3	+	7	1467	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.G191E|TRIM22_uc009yes.3_Missense_Mutation_p.G359E|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	363	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GATGTGTCTGGAAAGATTGCC	0.378000														44			22		0	0	0.003330	0	0
THBS1	7057	broad.mit.edu	37	15	39874921	39874921	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39874921A>T	uc001zkh.3	+	2	774	c.595A>T	c.(595-597)Atc>Ttc	p.I199F		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	199	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGACTCCGCATCGCAAAGGG	0.567000														24			9		0	0	0.000443	0	0
HNF1A	6927	broad.mit.edu	37	12	121431496	121431496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121431496G>A	uc001tzg.3	+	2	723	c.700G>A	c.(700-702)Gag>Aag	p.E234K	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.E234K|HNF1A_uc001tzf.3_Missense_Mutation_p.E234K|HNF1A_uc010szn.2_Missense_Mutation_p.E234K|HNF1A_uc021rfa.1_Missense_Mutation_p.E234K|HNF1A_uc021rfb.1_Missense_Mutation_p.E106K|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	234					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V233del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACGCTAGTGGAGGAGTGCAA	0.582000									Hepatic Adenoma, Familial Clustering of					74			53		0	0	0.003610	0	0
AFF3	3899	broad.mit.edu	37	2	100210137	100210137	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:100210137G>A	uc002taf.3	-	13	2205	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S	AFF3_uc002tag.3_Silent_p.S662S|AFF3_uc010fiq.1_Silent_p.S662S|AFF3_uc010yvr.1_Silent_p.S815S|AFF3_uc002tah.1_Silent_p.S687S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	662					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAACTCCTTGGATTTGGGGA	0.612000														65			39		0	0	0.003214	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094804	9094804	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9094804G>A	uc003brf.1	-	8	1906	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	SRGAP3_uc003brg.1_Silent_p.S410S|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Silent_p.S270S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	410					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGACTTGACGGACTCTGTCG	0.488000			T	RAF1	pilocytic astrocytoma									25			12		0	0	0.000978	0	0
CACNA1E	777	broad.mit.edu	37	1	181702759	181702759	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181702759C>T	uc009wxt.3	+	20	3330	c.3135C>T	c.(3133-3135)gtC>gtT	p.V1045V	CACNA1E_uc001gow.3_Silent_p.V1045V|CACNA1E_uc009wxs.3_Silent_p.V1026V|CACNA1E_uc001gox.1_Silent_p.V271V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1045					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						TGGGCCGGGTCATCAGCCAGA	0.652000														15			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179629296	179629296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179629296C>T	uc021vsy.1	-	41	10171	c.9946G>A	c.(9946-9948)Gac>Aac	p.D3316N	TTN_uc021vsz.1_Missense_Mutation_p.D3270N|TTN_uc021vta.1_Missense_Mutation_p.D3270N|TTN_uc021vtb.1_Missense_Mutation_p.D3270N|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.D3316N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3316	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P3315S(1)|p.A3316A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCATAGTCATTCTTGGCT	0.453000														64			47		0	0	0.003610	0	0
PTPRE	5791	broad.mit.edu	37	10	129869087	129869087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:129869087C>T	uc009yat.3	+	15	1759	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	PTPRE_uc001lkb.3_Missense_Mutation_p.R437W|PTPRE_uc009yau.2_Missense_Mutation_p.R437W|PTPRE_uc001lkd.3_Missense_Mutation_p.R379W|PTPRE_uc010quq.1_Missense_Mutation_p.R338W	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	437	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R437W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GACAAATGTCCGGATCATGAA	0.522000														23			4		0	0	0.000602	0	0
PNKD	25953	broad.mit.edu	37	2	219206854	219206854	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219206854C>T	uc002vhn.3	+	6	912	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PNKD_uc002vhq.3_Silent_p.F232F	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGCTCTTCCTCTCTGGCT	0.607000														20			8		0	0	0.000673	0	0
OGDHL	55753	broad.mit.edu	37	10	50944459	50944459	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50944459T>G	uc009xog.3	-	19	2813	c.2779A>C	c.(2779-2781)Aag>Cag	p.K927Q	OGDHL_uc001jie.3_Missense_Mutation_p.K900Q|OGDHL_uc010qgt.2_Missense_Mutation_p.K843Q|OGDHL_uc010qgu.2_Missense_Mutation_p.K691Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	900					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						CTCCGCTCCTTCACCAGGTCA	0.612000														63			34		0	0	0.004878	0	0
NSRP1	84081	broad.mit.edu	37	17	28512481	28512481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:28512481C>T	uc002heu.3	+	6	1494	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	NSRP1_uc002hev.3_Missense_Mutation_p.P435L|NSRP1_uc010wbl.2_Missense_Mutation_p.P435L|NSRP1_uc010wbm.2_Missense_Mutation_p.P435L|NSRP1_uc002hex.3_Missense_Mutation_p.P435L	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	489					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAAGAGAAACCCTCTAATTCT	0.433000														10			54		0	0	0.003610	0	0
EML5	161436	broad.mit.edu	37	14	89178744	89178744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:89178744C>T	uc021ryf.1	-	9	1777	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R	EML5_uc021ryg.1_Missense_Mutation_p.G510R|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	510						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCAAATTCCATTTACTTCA	0.343000														14			46		0	0	0.003610	0	0
SMPD3	55512	broad.mit.edu	37	16	68405192	68405192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68405192G>A	uc002ewa.3	-	2	1315	c.893C>T	c.(892-894)tCc>tTc	p.S298F	SMPD3_uc010cfe.3_Missense_Mutation_p.S298F|SMPD3_uc010vlh.2_Missense_Mutation_p.S298F	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	298					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGACTCCCGGGAGGCCGAGGG	0.692000														16			13		0	0	0.001368	0	0
OR56A3	390083	broad.mit.edu	37	11	5968696	5968696	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5968696C>T	uc010qzt.2	+	0	120	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTTTCCTCTTGGCCGTAG	0.597000														34			25		0	0	0.003954	0	0
DNAH2	146754	broad.mit.edu	37	17	7689896	7689896	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7689896T>C	uc002giu.1	+	39	6371	c.6357T>C	c.(6355-6357)ccT>ccC	p.P2119P		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2119	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGAGTTCCCTTTGAACCCCA	0.498000														5			23		0	0	0.003954	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477133	110477133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110477133C>T	uc003yne.3	+	48	8176	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2691					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)			ATCCTGGCTCCTTATGTTGGA	0.463000										HNSCC(38;0.096)				48			75		0	0	0.003610	0	0
PAX2	5076	broad.mit.edu	37	10	102566350	102566350	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102566350C>T	uc001krk.4	+	6	1399	c.849C>T	c.(847-849)atC>atT	p.I283I	PAX2_uc001krm.4_Silent_p.I283I|PAX2_uc001krn.4_Silent_p.I260I|PAX2_uc001kro.4_Silent_p.I260I|PAX2_uc010qps.2_Silent_p.I259I|PAX2_uc001krl.4_Silent_p.I260I|PAX2_uc001krp.1_Silent_p.I256I	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	283					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGAGCACATCAAATCAGAAC	0.522000														69			53		0	0	0.003610	0	0
COL4A3	1285	broad.mit.edu	37	2	228137698	228137698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228137698C>T	uc002vom.2	+	25	1954	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	598	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAAGGTCCTCCAGGGGATCC	0.562000														24			16		0	0	0.004990	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841541	100841541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100841541G>A	uc003uyc.3	-	4	766	c.599C>T	c.(598-600)tCa>tTa	p.S200L	MOGAT3_uc010lhr.3_Missense_Mutation_p.S200L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	200					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCGGGGACTGAATACAGGGC	0.672000														4			40		0	0	0.002852	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761924	92761924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92761924C>T	uc003umh.1	-	4	4577	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	SAMD9L_uc003umj.1_Missense_Mutation_p.D1121N|SAMD9L_uc003umi.1_Missense_Mutation_p.D1121N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D1121N|SAMD9L_uc003umk.1_Missense_Mutation_p.D1121N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D1121N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D1121N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D1121N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1121										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTAGTGTATCTGAAATATAG	0.388000														139			57		0	0	0.003610	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120715	41120715	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:41120715T>C	uc001zmz.3	-	0	193	c.125A>G	c.(124-126)cAc>cGc	p.H42R	PPP1R14D_uc001zmy.3_Missense_Mutation_p.H42R	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	42					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGTCCGGGTGGGACTTGGA	0.602000														23			20		0	0	0.001216	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322791	79322791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:79322791C>T	uc010mpk.3	-	7	4523	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K	PRUNE2_uc022bih.1_Missense_Mutation_p.E1289K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1467					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTACATTCTTCAGTTTTCTCA	0.433000														13			48		0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	36158062	36158062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:36158062G>A	uc021rid.1	+	45	7597	c.7063G>A	c.(7063-7065)Gct>Act	p.A2355T	NBEA_uc021ric.1_Missense_Mutation_p.A2352T|NBEA_uc010abi.3_Missense_Mutation_p.A1011T|NBEA_uc010tee.1_Missense_Mutation_p.A148T|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.A148T|NBEA_uc010teg.1_Missense_Mutation_p.A148T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2355	BEACH.					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)		CCCCAAGAGAGCTGTGTTTTA	0.328000														55			77		0	0	0.003610	0	0
EYA4	2070	broad.mit.edu	37	6	133767784	133767784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:133767784G>A	uc011ecs.2	+	3	416	c.100G>A	c.(100-102)Gac>Aac	p.D34N	EYA4_uc011ecq.2_Missense_Mutation_p.D34N|EYA4_uc011ecr.2_Missense_Mutation_p.D34N|EYA4_uc003qec.4_Missense_Mutation_p.D34N|EYA4_uc003qed.4_Missense_Mutation_p.D34N|EYA4_uc003qee.4_Missense_Mutation_p.D34N|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	34					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGAAATGCAGGACCTAGCAAG	0.393000														38			19		0	0	0.002299	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489617	110489617	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110489617C>T	uc003yne.3	+	52	9185	c.9081C>T	c.(9079-9081)gcC>gcT	p.A3027A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3027					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)			AGCGACCAGCCACATATAAGT	0.378000										HNSCC(38;0.096)				51			18		0	0	0.000743	0	0
MYH1	4619	broad.mit.edu	37	17	10401200	10401200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10401200C>T	uc002gmo.3	-	30	4310	c.4216G>A	c.(4216-4218)Gaa>Aaa	p.E1406K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1406						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTACATGTTCCTCAGCATCC	0.458000														13			51		0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94137989	94137989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:94137989G>A	uc011cdt.2	+	5	1148	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	GRID2_uc010ikx.3_Missense_Mutation_p.R297Q|GRID2_uc011cdu.2_Missense_Mutation_p.R202Q|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	297					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R297R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATAAGTCAGCGGTGTTTCCGT	0.398000														55			54		0	0	0.003610	0	0
TMEM8B	51754	broad.mit.edu	37	9	35852909	35852909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:35852909C>T	uc003zyo.3	+	10	2193	c.905C>T	c.(904-906)tCc>tTc	p.S302F	TMEM8B_uc003zym.3_Missense_Mutation_p.S302F	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	302					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TTCCTGGGCTCCTTAATGTCC	0.532000														8			36		0	0	0.004878	0	0
EPSTI1	94240	broad.mit.edu	37	13	43537394	43537394	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:43537394C>T	uc001uyw.1	-	4	562	c.486G>A	c.(484-486)gaG>gaA	p.E162E	EPSTI1_uc001uyx.1_Silent_p.E162E	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	162										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCCTTACCTTCTCTCTCTGAA	0.313000														45			49		0	0	0.003610	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415687	74415687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:74415687C>T	uc001ovh.3	-	6	848	c.595G>A	c.(595-597)Gat>Aat	p.D199N	CHRDL2_uc001ovg.3_Missense_Mutation_p.D83N|CHRDL2_uc001ovi.3_Missense_Mutation_p.D199N|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Missense_Mutation_p.D199N	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	199					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAACATGGATCCTGAGGATGT	0.597000														10			13		0	0	0.001855	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801392	185801392	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185801392G>A	uc002uph.3	+	3	1863	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	423						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACAATGTGAGCCATTTGTAC	0.363000														108			66		0	0	0.003610	0	0
SGK2	10110	broad.mit.edu	37	20	42198101	42198101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42198101C>T	uc002xkv.3	+	4	704	c.485C>T	c.(484-486)tCc>tTc	p.S162F	SGK2_uc002xkr.3_Missense_Mutation_p.S102F|SGK2_uc010ggm.3_Missense_Mutation_p.S102F|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.S102F|SGK2_uc002xkq.1_Missense_Mutation_p.S102F	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	162	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGCGCTACTCCTTCCAGACA	0.617000														25			40		0	0	0.005524	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058291	152058291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152058291C>T	uc001ezo.1	-	2	1932	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	623							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTGGTCCTCTGTGAGCTGT	0.557000														59			27		0	0	0.005443	0	0
OR56A3	390083	broad.mit.edu	37	11	5968624	5968624	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5968624C>T	uc010qzt.2	+	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCAGACTTCCTCTTGAATT	0.483000														25			12		0	0	0.001368	0	0
VPS13A	23230	broad.mit.edu	37	9	79932584	79932584	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:79932584C>T	uc004akr.3	+	39	5186	c.4926C>T	c.(4924-4926)atC>atT	p.I1642I	VPS13A_uc004akp.4_Silent_p.I1642I|VPS13A_uc004akq.4_Silent_p.I1642I|VPS13A_uc004aks.3_Silent_p.I1603I|VPS13A_uc004akt.3_5'Flank|VPS13A_uc010mpo.1_Silent_p.I238I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1642					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACAAGTGATCGATATGTCAG	0.299000														4			31		0	0	0.004878	0	0
C12orf63	374467	broad.mit.edu	37	12	97073425	97073425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:97073425G>A	uc021rcc.1	+	6	964	c.886G>A	c.(886-888)Gac>Aac	p.D296N				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	296										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						GGACGTGACAGACACCTTGAG	0.458000														69			46		0	0	0.003214	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221966	118221966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:118221966G>A	uc004era.4	-	10	3227	c.3227C>T	c.(3226-3228)cCt>cTt	p.P1076L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1076										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGTGCCACAGGACTGCTCCA	0.522000														5			49		0	0	0.003610	0	0
TEKT1	83659	broad.mit.edu	37	17	6704101	6704101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:6704101C>T	uc002gdt.3	-	6	1124	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	TEKT1_uc010vth.2_Missense_Mutation_p.M192I	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	338					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAACCTCCTTCATTAGCCTAT	0.562000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			107		0	0	0.003610	0	0
D21847	0	broad.mit.edu	37	14	22090560	22090560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22090560G>A	uc001wbi.2	+	1	212	c.199G>A	c.(199-201)Gat>Aat	p.D67N						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		CCAGCAACATGATGGCGGAGC	0.483000														73			40		0	0	0.003610	0	0
NUDT7	283927	broad.mit.edu	37	16	77775526	77775526	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77775526C>T	uc010chd.3	+	3	487	c.396C>T	c.(394-396)ttC>ttT	p.F132F	NUDT7_uc021tlp.1_Missense_Mutation_p.P164S|NUDT7_uc021tlq.1_Silent_p.F117F|NUDT7_uc010vnj.2_Silent_p.F79F	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	132	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.N131N(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ACCACAACTTCCAGGCCCAGC	0.438000														36			26		0	0	0.005443	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:33629411C>T	uc001uus.3	+	2	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_uc001uur.1_Missense_Mutation_p.P213S	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000														37			56		0	0	0.003610	0	0
THBS1	7057	broad.mit.edu	37	15	39880355	39880355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39880355G>A	uc001zkh.3	+	8	1586	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	469	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCCCCCAGATGAACGGGAAAC	0.597000														27			12		0	0	0.001855	0	0
DCHS2	54798	broad.mit.edu	37	4	155163905	155163905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:155163905C>T	uc003inw.2	-	21	5596	c.5596G>A	c.(5596-5598)Gat>Aat	p.D1866N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1866	Cadherin 16.				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)		ATCCCTTTATCTGTGGCTTGG	0.388000														35			14		0	0	0.003163	0	0
RNF182	221687	broad.mit.edu	37	6	13977949	13977949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:13977949G>A	uc021ylw.1	+	2	1092	c.599G>A	c.(598-600)gGa>gAa	p.G200E	RNF182_uc021ylx.1_Missense_Mutation_p.G200E|RNF182_uc003nbe.3_Missense_Mutation_p.G200E|RNF182_uc003nbf.3_Missense_Mutation_p.G200E|RNF182_uc003nbg.3_Missense_Mutation_p.G200E|RNF182_uc021yly.1_Missense_Mutation_p.G200E	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	200						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTACCCTTAGGAATCTACTTA	0.493000														78			54		0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112751959	112751959	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:112751959G>A	uc002thk.1	+	8	1550	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	MERTK_uc002thl.1_Silent_p.V300V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	476	Fibronectin type-III 2.				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						GTGATCCAGTGAAAATATTTA	0.537000														44			33		0	0	0.003271	0	0
SMG1	23049	broad.mit.edu	37	16	18839433	18839433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:18839433G>A	uc002dfm.3	-	54	10024	c.9661C>T	c.(9661-9663)Cca>Tca	p.P3221S	SMG1_uc010bwb.3_Missense_Mutation_p.P3081S|SMG1_uc010bwa.3_Missense_Mutation_p.P1952S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3221					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCAGACCGTGGGGGAGGTGTG	0.418000														13			9		0	0	0.000443	0	0
EGR1	1958	broad.mit.edu	37	5	137802462	137802462	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:137802462C>T	uc003ldb.1	+	1	594	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	108					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCCTGACATCTCTCTGAACA	0.577000														27			49		0	0	0.003610	0	0
MYH9	4627	broad.mit.edu	37	22	36690308	36690308	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:36690308C>A	uc003apg.3	-	27	3898	c.3667G>T	c.(3667-3669)Gag>Tag	p.E1223*		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1223					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCGTTCTCCAGAGTCTGC	0.592000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					28			23		3.73808e-20	7.8761e-20	0.005443	1	0
BDNF	627	broad.mit.edu	37	11	27679990	27679991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:27679990_27679991CC>TT	uc001mrv.3	-	1	479_480	c.121_122GG>AA	c.(121-123)ggg>AAg	p.G41K	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Non-coding_Transcript|BDNF-AS_uc001mro.3_Non-coding_Transcript|BDNF-AS_uc001mrm.3_Non-coding_Transcript|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Non-coding_Transcript|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Non-coding_Transcript|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Non-coding_Transcript|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Non-coding_Transcript|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Non-coding_Transcript|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Non-coding_Transcript|BDNF-AS_uc009yit.3_Non-coding_Transcript|BDNF-AS_uc009yiv.3_Non-coding_Transcript|BDNF-AS_uc009yja.3_Non-coding_Transcript|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Missense_Mutation_p.G41K|BDNF_uc010rdu.2_Missense_Mutation_p.G41K|BDNF_uc001mrt.3_Missense_Mutation_p.G56K|BDNF_uc010rdw.2_Missense_Mutation_p.G41K|BDNF_uc009yjd.3_Missense_Mutation_p.G41K|BDNF_uc001mru.3_Missense_Mutation_p.G41K|BDNF_uc010rdx.2_Missense_Mutation_p.G41K|BDNF_uc009yjf.3_Missense_Mutation_p.G70K|BDNF_uc010rdy.2_Missense_Mutation_p.G41K|BDNF_uc009yjg.3_Missense_Mutation_p.G41K|BDNF_uc009yje.3_Missense_Mutation_p.G123K|BDNF_uc001mrw.4_Missense_Mutation_p.G41K|BDNF_uc001mry.4_Missense_Mutation_p.G41K|BDNF_uc001mrz.4_Missense_Mutation_p.G41K|BDNF_uc001mrx.3_Missense_Mutation_p.G41K|BDNF_uc001msa.3_Missense_Mutation_p.G49K	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	41						extracellular region	growth factor activity	p.G49W(1)|p.G123W(1)		breast(1)|large_intestine(3)|lung(2)	6						CTCCAGAGTCCCATGGGTCCGC	0.520000														55			44		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9086617	9086617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9086617G>A	uc002mkp.3	-	0	5402	c.5198C>T	c.(5197-5199)tCc>tTc	p.S1733F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1733	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1733Y(2)		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						TTCAAGAGAGGAGGAGAGAGC	0.498000														51			34		0	0	0.002445	0	0
IL2RB	3560	broad.mit.edu	37	22	37524378	37524378	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37524378G>A	uc003aqv.1	-	9	1545	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	472					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)	GGAGGCCCCAGGGGCTGGGGG	0.682000														15			11		0	0	0.000673	0	0
PTPRK	5796	broad.mit.edu	37	6	128563672	128563672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:128563672G>A	uc003qbk.3	-	3	938	c.571C>T	c.(571-573)Cct>Tct	p.P191S	PTPRK_uc010kfc.3_Missense_Mutation_p.P191S|PTPRK_uc003qbj.3_Missense_Mutation_p.P191S|PTPRK_uc011ebu.2_Missense_Mutation_p.P191S|PTPRK_uc003qbl.1_Missense_Mutation_p.P61S|PTPRK_uc011ebv.1_Missense_Mutation_p.P191S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	191	MAM.				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)		CTACCACAAGGATAACTCAGT	0.353000														34			10		0	0	0.000978	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928780	35928780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35928780G>A	uc003olm.3	-	12	1669	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.R102C|SLC26A8_uc003oll.3_Missense_Mutation_p.R415C|SLC26A8_uc003oln.3_Missense_Mutation_p.R520C	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	520					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V519I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGTGTGAACGAACAGTGGTG	0.413000														26			16		0	0	0.004990	0	0
CXCR1	3577	broad.mit.edu	37	2	219029809	219029809	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219029809C>T	uc021vwq.1	-	0	126	c.126G>A	c.(124-126)gtG>gtA	p.V42V	CXCR1_uc002vhc.3_Silent_p.V42V	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	42					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGGCGATGATCACAACATACT	0.498000														68			30		0	0	0.001786	0	0
SYVN1	84447	broad.mit.edu	37	11	64899811	64899811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64899811G>A	uc001odb.3	-	5	533	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	SYVN1_uc001odc.3_Missense_Mutation_p.L147F|SYVN1_uc009yqc.3_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	147					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGCCCAGGAGGAACATAAGA	0.597000														24			14		0	0	0.002450	0	0
TLR3	7098	broad.mit.edu	37	4	187005059	187005059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:187005059G>A	uc003iyq.3	+	3	2320	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	TLR3_uc011ckz.2_Missense_Mutation_p.R463Q|TLR3_uc003iyr.3_Missense_Mutation_p.R463Q	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	740					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|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-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCAGTACATCGAGTTCTTGGT	0.348000														100			66		0	0	0.003610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366071	47366071	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47366071G>A	uc001cqo.1	-	0		c.77C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GCAAGAAGGGGTGAGCCATGA	0.547000														3			7		0	0	0.001984	0	0
OR4K13	390433	broad.mit.edu	37	14	20502407	20502407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502407G>A	uc010tkz.2	-	0	511	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATAACATTGGGACCACAGAAG	0.483000														56			31		0	0	0.002096	0	0
TPO	7173	broad.mit.edu	37	2	1488505	1488505	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1488505C>T	uc002qwr.3	+	8	1562	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.F492F|TPO_uc002qwx.3_Silent_p.F492F|TPO_uc002qwu.3_Silent_p.F492F|TPO_uc010yio.2_Silent_p.F319F|TPO_uc010yip.2_Silent_p.F492F|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	492					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCCGCTTCGGCCATGCCA	0.652000														23			11		0	0	0.001855	0	0
MTUS2	23281	broad.mit.edu	37	13	30077312	30077312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:30077312C>T	uc001usl.4	+	13	4167	c.4109C>T	c.(4108-4110)tCt>tTt	p.S1370F	MTUS2_uc001usm.4_Missense_Mutation_p.S339F|MTUS2_uc010aau.3_Missense_Mutation_p.S249F|MTUS2_uc010tdq.2_Missense_Mutation_p.S122F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1360						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGGCCCTCCTCTCCGGCCAGA	0.642000														23			10		0	0	0.000978	0	0
DAB2	1601	broad.mit.edu	37	5	39375143	39375143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:39375143G>A	uc003jlx.3	-	13	2822	c.2291C>T	c.(2290-2292)cCa>cTa	p.P764L	DAB2_uc003jlw.3_Missense_Mutation_p.P743L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	764	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ATTTCCAAATGGATCCCTATA	0.353000														78			68		0	0	0.003610	0	0
LMF1	64788	broad.mit.edu	37	16	960943	960943	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:960943G>A	uc021tae.1	-	3	655	c.651C>T	c.(649-651)atC>atT	p.I217I	LMF1_uc010uuu.2_5'UTR|LMF1_uc021tad.1_Silent_p.I48I|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuv.1_Non-coding_Transcript	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	217						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCCAAGCATGATCCTGAAGA	0.567000														12			11		0	0	0.001368	0	0
KSR2	283455	broad.mit.edu	37	12	117962846	117962846	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117962846A>G	uc001two.2	-	13	1998	c.1943T>C	c.(1942-1944)tTt>tCt	p.F648S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	677					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACTTGCCCAAAGCGGCCCTT	0.607000														18			11		0	0	0.000673	0	0
NEB	4703	broad.mit.edu	37	2	152420200	152420200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152420200C>T	uc021vrb.1	-	89	13539	c.13510G>A	c.(13510-13512)Ggt>Agt	p.G4504S	NEB_uc002txr.3_Missense_Mutation_p.G970S|NEB_uc002txu.3_Missense_Mutation_p.G6205S|NEB_uc021vrc.1_Missense_Mutation_p.G6205S|NEB_uc010fnx.3_Missense_Mutation_p.G4492S|NEB_uc021vrd.1_Missense_Mutation_p.G4504S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4504					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGTAGTGACCTTTCTGCTTC	0.438000														153			97		0	0	0.003610	0	0
OR4C16	219428	broad.mit.edu	37	11	55340247	55340247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55340247C>T	uc010rih.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTAATATTCTCCTATGTCATC	0.418000														30			23		0	0	0.002299	0	0
ZBBX	79740	broad.mit.edu	37	3	167000208	167000208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:167000208G>A	uc011bpc.2	-	19	2409	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	ZBBX_uc003feq.3_Missense_Mutation_p.S623L|ZBBX_uc003fep.3_Missense_Mutation_p.S652L	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	652						intracellular	zinc ion binding	p.D690E(1)		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						ATGAGAGGATGAAAGGCAACT	0.353000														102			65		0	0	0.003610	0	0
SNCB	6620	broad.mit.edu	37	5	176053500	176053500	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176053500C>T	uc010jke.1	-	1	778	c.384G>A	c.(382-384)agG>agA	p.R128R	SNCB_uc021yij.1_Missense_Mutation_p.E61K|SNCB_uc003mep.3_Missense_Mutation_p.E61K|SNCB_uc003meq.3_Missense_Mutation_p.E61K|SNCB_uc021yig.1_Missense_Mutation_p.E47K|SNCB_uc021yih.1_Missense_Mutation_p.E61K|SNCB_uc021yii.1_Missense_Mutation_p.E47K			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity			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)			GAGGCCTGTTCCTTGGTTTTT	0.582000														7			14		0	0	0.002450	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152748928G>A	uc010pdv.2	+	0	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000														17			22		0	0	0.003330	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120903	38120903	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:38120903C>T	uc003atr.3	+	6	2611	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	TRIOBP_uc003atu.3_Silent_p.T608T|TRIOBP_uc003atq.1_Silent_p.T780T|TRIOBP_uc003ats.1_Silent_p.T608T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	780					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCCCAGGACCTCCTCTCCCA	0.572000														20			10		0	0	0.000673	0	0
CD163L1	283316	broad.mit.edu	37	12	7586211	7586211	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7586211C>T	uc010sge.2	-	2	230	c.204G>A	c.(202-204)caG>caA	p.Q68Q	CD163L1_uc001qsy.3_Silent_p.Q68Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	68	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTCCCCCACTGTCCCTGGA	0.498000														45			45		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38755538	38755538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38755538C>T	uc003ciq.3	-	20	3715	c.3715G>A	c.(3715-3717)Gaa>Aaa	p.E1239K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1239					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)	TCAGAATATTCCAGAATCTTC	0.522000														52			35		0	0	0.001951	0	0
LGI2	55203	broad.mit.edu	37	4	25005151	25005151	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:25005151C>T	uc003grf.2	-	7	1659	c.1560G>A	c.(1558-1560)agG>agA	p.R520R		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	520						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGAAATCTCTCCTGTCGGTGG	0.398000														29			21		0	0	0.001216	0	0
L1TD1	54596	broad.mit.edu	37	1	62672548	62672548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62672548G>A	uc021ooc.1	+	3	683	c.248G>A	c.(247-249)gGa>gAa	p.G83E	L1TD1_uc001dae.4_Missense_Mutation_p.G83E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	83										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						gttttagggggaaaagctaca	0.353000														48			24		0	0	0.002299	0	0
LRRC20	55222	broad.mit.edu	37	10	72061176	72061176	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:72061176G>A	uc001jqx.1	-	4	711	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC20_uc001jqy.1_Silent_p.I107I|LRRC20_uc001jqz.1_Silent_p.I113I	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	163										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCGGCGGGGCGATCACGCGCA	0.632000														37			50		0	0	0.003610	0	0
KLHL4	56062	broad.mit.edu	37	X	86772938	86772938	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:86772938C>T	uc004efa.2	+	0	224	c.42C>T	c.(40-42)atC>atT	p.I14I	KLHL4_uc004efb.2_Silent_p.I14I	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	14						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAAACAGATCCTAAGGCTAC	0.478000														19			56		0	0	0.003610	0	0
IGSF6	10261	broad.mit.edu	37	16	21658637	21658637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21658637C>T	uc002djg.2	-	1	312	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	LOC23117_uc021tel.1_Intron|METTL9_uc002dje.3_Intron|METTL9_uc002djf.3_Intron|IGSF6_uc010vbi.2_Missense_Mutation_p.G82R	NM_005849	NP_005840	O95976	IGSF6_HUMAN	Homo sapiens immunoglobulin superfamily, member 6 (IGSF6), mRNA.	82	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTTTTGCACCCGTCCAAGCAC	0.507000														33			13		0	0	0.003163	0	0
PSG8	440533	broad.mit.edu	37	19	43262217	43262217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43262217C>T	uc002ouo.2	-	2	744	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.E216K|PSG8_uc010ein.3_Missense_Mutation_p.E94K|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	216	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTTCACATTCATAGGGTCCT	0.512000														120			83		0	0	0.003610	0	0
CAPN6	827	broad.mit.edu	37	X	110491989	110491989	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110491989T>C	uc004epc.2	-	9	1483	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	CAPN6_uc011msu.2_Missense_Mutation_p.N176S	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	431	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAATTTGCGGTTCATCTCCAC	0.448000														6			20		0	0	0.002299	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979461	68979461	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:68979461G>A	uc009xpn.1	-	5	870	c.747C>T	c.(745-747)ctC>ctT	p.L249L	CTNNA3_uc001jmw.2_Silent_p.L249L|CTNNA3_uc001jmx.4_Silent_p.L249L|CTNNA3_uc009xpo.1_Silent_p.L109L|CTNNA3_uc001jna.2_Silent_p.L261L	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	249					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						AAATTACATTGAGAGCATTCT	0.453000														88			62		0	0	0.003610	0	0
SHD	56961	broad.mit.edu	37	19	4283085	4283085	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4283085C>T	uc002lzw.2	+	2	1901	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	146										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTATGACACCCCTTATGAGG	0.617000														24			13		0	0	0.002450	0	0
SCN5A	6331	broad.mit.edu	37	3	38674533	38674533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38674533G>A	uc021wvo.1	-	0	318	c.266C>T	c.(265-267)aCc>aTc	p.T89I	SCN5A_uc021wvk.1_Missense_Mutation_p.T89I|SCN5A_uc021wvl.1_Missense_Mutation_p.T89I|SCN5A_uc021wvm.1_Missense_Mutation_p.T89I|SCN5A_uc021wvn.1_Missense_Mutation_p.T89I|SCN5A_uc021wvp.1_Missense_Mutation_p.T89I|SCN5A_uc021wvq.1_Missense_Mutation_p.T89I|SCN5A_uc021wvr.1_Missense_Mutation_p.T89I|SCN5A_uc021wvs.1_Missense_Mutation_p.T89I|SCN5A_uc021wvt.1_Missense_Mutation_p.T89I|SCN5A_uc021wvu.1_Missense_Mutation_p.T89I|SCN5A_uc021wvv.1_Missense_Mutation_p.T89I|SCN5A_uc021wvx.1_Missense_Mutation_p.P92S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	89					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)	CACCTTTTGGGTGCTATAGAA	0.592000														29			13		0	0	0.000958	0	0
DCHS2	54798	broad.mit.edu	37	4	155243506	155243506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:155243506C>T	uc003inw.2	-	12	2788	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	930	Cadherin 7.				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)		ACTGCCTGTCCTTGAAGAGGA	0.373000														30			27		0	0	0.001512	0	0
SI	6476	broad.mit.edu	37	3	164786616	164786616	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164786616A>G	uc003fei.3	-	4	440	c.377T>C	c.(376-378)gTt>gCt	p.V126A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	126	Isomaltase.				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)	TTTGGCTTCAACTCCTTAAAG	0.318000										HNSCC(35;0.089)				54			38		0	0	0.004878	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314270	30314270	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30314270C>A	uc010jsa.2	+	8	1357	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	TRIM39-RPP21_uc003nqf.2_Missense_Mutation_p.F101L|TRIM39-RPP21_uc021yuc.1_Missense_Mutation_p.F109L|TRIM39-RPP21_uc003nqe.2_Missense_Mutation_p.F101L|TRIM39-RPP21_uc003nqd.2_Missense_Mutation_p.F124L	NM_001199119	NP_001186048	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens TRIM39-RPP21 readthrough (TRIM39-RPP21), mRNA.	362						intracellular	zinc ion binding										GCCAACGCTTCCTCAATGATC	0.582000														16			13		5.50884e-06	1.15155e-05	0.001368	1	0
RIMS2	9699	broad.mit.edu	37	8	105257166	105257166	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105257166G>A	uc003yls.3	+	23	3652	c.3411G>A	c.(3409-3411)agG>agA	p.R1137R	RIMS2_uc003ylp.3_Silent_p.R1119R|RIMS2_uc003ylw.2_Silent_p.R1126R|RIMS2_uc003ylq.3_Silent_p.R933R|RIMS2_uc003ylr.3_Silent_p.R958R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1181					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAACTAAGGAGCACTGTCC	0.448000										HNSCC(12;0.0054)				63			85		0	0	0.003610	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420375	69420375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:69420375G>A	uc004afn.3	+	12	1377	c.1265G>A	c.(1264-1266)gGg>gAg	p.G422E		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	422										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAAGATTGGGAAAACGTAT	0.343000														195			35		0	0	0.004878	0	0
abParts	0	broad.mit.edu	37	22	23261724	23261724	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23261724C>T	uc021wml.1	+	443		c.18151C>T								Parts of antibodies, mostly variable regions.																		CAAGGCTGCCCCCTCGGTCAC	0.627000														15			10		0	0	0.000978	0	0
BTNL8	79908	broad.mit.edu	37	5	180374560	180374560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180374560G>A	uc003mmp.3	+	3	956	c.722G>A	c.(721-723)gGa>gAa	p.G241E	BTNL8_uc003mmq.3_Missense_Mutation_p.G241E|BTNL8_uc010jll.3_Missense_Mutation_p.G241E|BTNL8_uc011dhg.2_Missense_Mutation_p.G116E|BTNL8_uc010jlm.3_Missense_Mutation_p.G125E|BTNL8_uc011dhh.2_Missense_Mutation_p.G57E	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	241						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTACTGGGAATACTCTGC	0.428000														34			108		0	0	0.003610	0	0
RAD9A	5883	broad.mit.edu	37	11	67164708	67164708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:67164708G>A	uc001okr.3	+	9	1024	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	RAD9A_uc021qmg.1_Missense_Mutation_p.E235K	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	311	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GATCGCCATGGAAACCACTAT	0.612000								Other conserved DNA damage response genes						21			7		0	0	0.003080	0	0
SLC2A5	6518	broad.mit.edu	37	1	9107682	9107682	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9107682C>T	uc001apo.3	-	3	697	c.405G>A	c.(403-405)gtG>gtA	p.V135V	SLC2A5_uc010nzy.2_Silent_p.V76V|SLC2A5_uc010nzz.2_Silent_p.V20V|SLC2A5_uc010oaa.2_Silent_p.V91V|SLC2A5_uc010oac.2_Intron|SLC2A5_uc001app.4_Silent_p.V135V	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	135					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACATATTCCCACCAAAAGTC	0.448000														109			48		0	0	0.003610	0	0
NKAIN3	286183	broad.mit.edu	37	8	63902730	63902730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:63902730C>T	uc010lyq.1	+	5	668	c.536C>T	c.(535-537)tCa>tTa	p.S179L		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	179						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ttctcagattcatgtgatctg	0.254000														7			6		0	0	0.003080	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377397	60377397	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:60377397G>A	uc001czq.3	-	3	572	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	189					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AAATGATATTGGAAACTGCAT	0.448000														72			51		0	0	0.003610	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573706	140573706	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140573706C>T	uc003lix.3	+	0	1755	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCTTTCGAGTTCCGCG	0.692000														24			8		0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	141055395	141055395	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141055395C>A	uc002tvj.1	-	83	13921	c.12949G>T	c.(12949-12951)Gga>Tga	p.G4317*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4317	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4317*(2)		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)		CATCTGTCTCCGGTGTATTCC	0.453000										TSP Lung(27;0.18)				189			7		0.00448238	0.00930402	0.004482	1	0
IGSF10	285313	broad.mit.edu	37	3	151154827	151154827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151154827C>T	uc011bod.2	-	5	7522	c.7522G>A	c.(7522-7524)Gct>Act	p.A2508T	IGSF10_uc011bob.2_Missense_Mutation_p.A535T|IGSF10_uc011boc.2_Missense_Mutation_p.A487T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2508	Ig-like C2-type 11.				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)			CTATTTTGAGCCTTACAGATA	0.408000														69			48		0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154396832	154396832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:154396832C>T	uc010jih.1	+	0	3573	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1138	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCCAGGATTCCGAAGGCTCC	0.537000														6			14		0	0	0.002450	0	0
MYH1	4619	broad.mit.edu	37	17	10404024	10404024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10404024C>T	uc002gmo.3	-	27	3878	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1262						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCTTAATTTCACTCAGTTGA	0.483000														9			56		0	0	0.003610	0	0
C7orf25	79020	broad.mit.edu	37	7	42971806	42971806	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:42971806G>A	uc010kxr.3	-	1	1	c.-929_splice	c.e1-1		PSMA2_uc003thy.3_Splice_Site|PSMA2_uc003thz.1_Splice_Site|MRPL32_uc003tia.3_5'Flank|MRPL32_uc003tib.3_5'Flank	NM_001099858	NP_001093328	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.											endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACTGTGGCCGATTTCCTTTC	0.537000														27			17		0	0	0.004007	0	0
FAM114A2	10827	broad.mit.edu	37	5	153382520	153382520	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153382520T>A	uc003lvd.3	-	10	1145	c.1003A>T	c.(1003-1005)Acc>Tcc	p.T335S	FAM114A2_uc003lvb.3_Missense_Mutation_p.T335S|FAM114A2_uc003lve.3_Missense_Mutation_p.T151S|FAM114A2_uc011dda.2_Missense_Mutation_p.T265S|FAM114A2_uc003lvc.3_Missense_Mutation_p.T335S	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	335							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCGTGGGCGGTATTTCTTGCC	0.398000														23			38		0	0	0.002522	0	0
H6PD	9563	broad.mit.edu	37	1	9305602	9305602	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9305602C>T	uc001apt.3	+	1	882	c.609C>T	c.(607-609)gaC>gaT	p.D203D		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	203	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACCGGGTGGACCATTACTTAG	0.577000														27			10		0	0	0.000673	0	0
TRANK1	9881	broad.mit.edu	37	3	36897069	36897069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36897069G>A	uc003cgj.3	-	11	4260	c.4012C>T	c.(4012-4014)Ccc>Tcc	p.P1338S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1338					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAAATTGGGGCACCGTTTC	0.428000														60			42		0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36486741	36486741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36486741G>A	uc002hpz.3	-	10	2732	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	904						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGGCAGGGGAAGGTGGAGC	0.657000														0			17		0	0	0.004007	0	0
POM121L12	285877	broad.mit.edu	37	7	53103599	53103599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:53103599G>A	uc003tpz.3	+	0	251	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	79								p.E79K(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCACCTCATCGAGGTGCGGCC	0.711000														12			11		0	0	0.000978	0	0
AGPAT9	84803	broad.mit.edu	37	4	84511401	84511401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:84511401C>T	uc003how.3	+	6	912	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	AGPAT9_uc003hox.3_Missense_Mutation_p.P232S|AGPAT9_uc003hoy.3_Missense_Mutation_p.P232S	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	232					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCATACTTCCCCCATTGATGT	0.398000														39			16		0	0	0.004990	0	0
ITGB3	3690	broad.mit.edu	37	17	45367084	45367084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45367084C>T	uc002ilj.3	+	6	997	c.977C>T	c.(976-978)tCc>tTc	p.S326F	ITGB3_uc002ili.1_Missense_Mutation_p.S326F|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	326	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GAGAAGCTATCCCAGAAAAAC	0.448000														5			46		0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451725	138451725	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138451725C>T	uc003ihe.4	-	0	1905	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	PCDH18_uc003ihf.4_Silent_p.E499E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.E286E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	506	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAATAAAACTCTCCAAGATGG	0.403000														75			48		0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55587175	55587175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55587175C>T	uc010qhy.1	-	32	4755	c.4360G>A	c.(4360-4362)Gaa>Aaa	p.E1454K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1454K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1449K|PCDH15_uc021pqv.1_Missense_Mutation_p.E1449K|PCDH15_uc021pqw.1_Missense_Mutation_p.E1461K|PCDH15_uc010qht.2_Missense_Mutation_p.E1456K|PCDH15_uc021pqx.1_Missense_Mutation_p.E1449K|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1449K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1424K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1446K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1409K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1378K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1449K|PCDH15_uc010qia.1_Missense_Mutation_p.E1427K|PCDH15_uc001jju.1_Missense_Mutation_p.E1449K|PCDH15_uc010qib.1_Missense_Mutation_p.E1424K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1449					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)				CCAAGTTCTTCATAGAGATGC	0.552000										HNSCC(58;0.16)				32			19		0	0	0.000743	0	0
MAN2B1	4125	broad.mit.edu	37	19	12769289	12769289	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12769289G>A	uc002mub.2	-	7	1138	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	MAN2B1_uc010dyv.1_Silent_p.S353S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	354					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGCGGGGGTGGAGTAGAGAA	0.622000														17			7		0	0	0.004482	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796200	100796200	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:100796200G>A	uc010svi.2	+	6	1159	c.846G>A	c.(844-846)gaG>gaA	p.E282E	SLC17A8_uc009ztx.3_Silent_p.E282E	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.	282					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						TATCCAATGAGGAGAAGACCT	0.408000														33			15		0	0	0.003163	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277994	156277994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156277994G>A	uc003lwf.1	+	0	446	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		GCGACAATTTGAAATGAGAAG	0.398000														13			25		0	0	0.002780	0	0
VWA7	80737	broad.mit.edu	37	6	31744340	31744340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31744340G>A	uc011dog.2	-	1	455	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	73						extracellular region											TCCTCAAGACGAAGAGGGGGG	0.632000														85			53		0	0	0.003610	0	0
ANO5	203859	broad.mit.edu	37	11	22301201	22301201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22301201G>A	uc001mqi.2	+	21	2949	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N	ANO5_uc001mqj.2_Missense_Mutation_p.D877N	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	878						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATTCTCCATGATTTTGAGCT	0.348000														42			29		0	0	0.001271	0	0
C3orf15	89876	broad.mit.edu	37	3	119426309	119426309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119426309C>T	uc003ede.4	+	2	337	c.260C>T	c.(259-261)tCt>tTt	p.S87F	C3orf15_uc010hqx.1_Missense_Mutation_p.S87F|C3orf15_uc003edc.2_Missense_Mutation_p.S87F|C3orf15_uc010hqy.2_Missense_Mutation_p.S87F|C3orf15_uc010hqz.3_Missense_Mutation_p.S25F|C3orf15_uc011bjd.2_Intron|C3orf15_uc011bje.2_Missense_Mutation_p.S67F|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	87						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CCAAGATATTCTCTATATTGG	0.438000														45			35		0	0	0.003271	0	0
TTC7B	145567	broad.mit.edu	37	14	91156014	91156014	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91156014A>T	uc001xyp.3	-	6	942	c.820T>A	c.(820-822)Tgt>Agt	p.C274S	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	274							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTCTGCTCACACATACCCCGC	0.493000														8			15		0	0	0.004007	0	0
CNTN5	53942	broad.mit.edu	37	11	100170010	100170010	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100170010C>T	uc001pga.3	+	19	3006	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	CNTN5_uc001pfz.3_Silent_p.F834F|CNTN5_uc021qpb.1_Silent_p.F834F|CNTN5_uc021qpc.1_Silent_p.F760F|CNTN5_uc010ruk.2_Silent_p.F105F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	834	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTCCAAATTCATTTATCGAG	0.428000														42			30		0	0	0.001786	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015921	145015921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145015921G>A	uc001elx.4	-	2	550	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Missense_Mutation_p.S56F|PDE4DIP_uc001elo.3_Missense_Mutation_p.S127F|PDE4DIP_uc001emh.3_Missense_Mutation_p.S127F|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	0					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCTCAAGGAATATGTCTG	0.448000			T	PDGFRB	MPD									450			69		0	0	0.003610	0	0
FETUB	26998	broad.mit.edu	37	3	186370278	186370278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186370278G>A	uc010hyq.3	+	7	1268	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	FETUB_uc011brz.2_Missense_Mutation_p.G188E|FETUB_uc003fqn.3_Missense_Mutation_p.G336E|FETUB_uc010hyr.3_Missense_Mutation_p.G299E|FETUB_uc010hys.3_Missense_Mutation_p.G188E|FETUB_uc003fqp.4_Missense_Mutation_p.G271E	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AATCCCCAGGGAGAAACCCTG	0.517000														62			27		0	0	0.002836	0	0
SEC16B	89866	broad.mit.edu	37	1	177927422	177927422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:177927422G>A	uc001glj.1	-	14	2079	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	SEC16B_uc001glk.1_Missense_Mutation_p.P81S|SEC16B_uc001glh.1_Missense_Mutation_p.P63S|SEC16B_uc001gli.1_Missense_Mutation_p.P404S|SEC16B_uc009wwz.1_Missense_Mutation_p.P63S|SEC16B_uc001gll.4_Missense_Mutation_p.P405S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	404					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTGGCCACAGGGGGCTGCCGC	0.587000														25			21		0	0	0.002780	0	0
CYB5R4	51167	broad.mit.edu	37	6	84669579	84669579	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84669579C>T	uc003pkf.3	+	15	1680	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	516					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AAAATGAGATCCATAGTTTTA	0.303000														13			13		0	0	0.002450	0	0
MAG	4099	broad.mit.edu	37	19	35801493	35801493	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35801493C>T	uc002nyy.2	+	8	1761	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	MAG_uc002nyx.2_Silent_p.V521V|MAG_uc010eds.2_Silent_p.V496V|MAG_uc002nyz.2_Silent_p.V521V	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	521					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGCCGTGGTCGCCTTTGCCA	0.592000														29			21		0	0	0.001512	0	0
NSMAF	8439	broad.mit.edu	37	8	59548091	59548091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:59548091G>A	uc011lee.2	-	2	318	c.257C>T	c.(256-258)tCc>tTc	p.S86F	NSMAF_uc003xtt.3_Missense_Mutation_p.S55F	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	55					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATTTTTAAGGAGCCTCTGAT	0.323000														151			55		0	0	0.003610	0	0
OR9K2	441639	broad.mit.edu	37	12	55524229	55524229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55524229C>T	uc010spe.2	+	0	677	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S226S(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATATCTTTTTCCTTATCATGT	0.363000														25			29		0	0	0.001061	0	0
ZNF253	56242	broad.mit.edu	37	19	19989412	19989412	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19989412C>T	uc002noj.3	+	1	218	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF253_uc002nok.3_Intron|ZNF253_uc002nol.3_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	42	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTTGGTCTTCCTTGGTGAGG	0.358000														43			43		0	0	0.003610	0	0
OR8B3	390271	broad.mit.edu	37	11	124266917	124266917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124266917C>T	uc010saj.2	-	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGTAACATTCAGAGATGACA	0.388000														23			17		0	0	0.000743	0	0
HRNR	388697	broad.mit.edu	37	1	152195619	152195619	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152195619C>T	uc001ezt.1	-	1	187	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	37	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCATTTTCCAGAAGTTCTT	0.428000														87			28		0	0	0.001271	0	0
PREX2	80243	broad.mit.edu	37	8	69069575	69069575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:69069575G>A	uc003xxv.1	+	34	4277	c.4250G>A	c.(4249-4251)gGa>gAa	p.G1417E		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1417					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						AGCATGGAAGGATATTATTAC	0.343000														19			22		0	0	0.002299	0	0
RTP2	344892	broad.mit.edu	37	3	187416366	187416366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:187416366G>A	uc003fro.1	-	1	1027	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	200					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.R200C(2)		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)		AGGCACCAGCGAAGAGACAAG	0.592000														25			15		0	0	0.004990	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762949	81762949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81762949C>T	uc001szo.2	-	11	1452	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E357K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E332K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E431K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E431K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E413K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E431K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_5'UTR|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	357										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATACGTTCTTCAATATTTCCA	0.313000														22			22		0	0	0.003330	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051361	147051361	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:147051361C>T	uc010jgo.1	-	0	157	c.9G>A	c.(7-9)aaG>aaA	p.K3K	JAKMIP2_uc003loq.1_Silent_p.K3K|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Silent_p.K3K	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	3						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGCCCTTTCTTGGACATTG	0.458000														7			12		0	0	0.004007	0	0
GK	2710	broad.mit.edu	37	X	30714762	30714762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:30714762C>T	uc022buj.1	+	7	870	c.691C>T	c.(691-693)Cca>Tca	p.P231S	GK_uc004dch.4_Missense_Mutation_p.P231S|GK_uc010ngj.3_Missense_Mutation_p.P231S|GK_uc004dci.4_Missense_Mutation_p.P231S|GK_uc011mjz.2_Missense_Mutation_p.P26S|GK_uc011mka.2_Missense_Mutation_p.P68S|GK_uc010ngk.3_Missense_Mutation_p.P26S	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	231					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GGAAATTCTTCCAAATGTCCG	0.279000														9			44		0	0	0.003610	0	0
LARP6	55323	broad.mit.edu	37	15	71124473	71124473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:71124473G>A	uc002ass.3	-	2	1465	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	465					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCCTACGGGTAGCCCATC	0.577000														38			31		0	0	0.002836	0	0
WDR52	55779	broad.mit.edu	37	3	113085083	113085083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:113085083G>A	uc003ead.2	-	18	2585	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	WDR52_uc003eae.2_Missense_Mutation_p.P840S	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	840										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GTCAATGAAGGATCATTTTGA	0.318000														46			30		0	0	0.001786	0	0
NEB	4703	broad.mit.edu	37	2	152397999	152397999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152397999G>A	uc021vrb.1	-	106	15570	c.15541C>T	c.(15541-15543)Ctt>Ttt	p.L5181F	NEB_uc002txr.3_Missense_Mutation_p.L1647F|NEB_uc002txu.3_Missense_Mutation_p.L6882F|NEB_uc021vrc.1_Missense_Mutation_p.L6882F|NEB_uc010fnx.3_Missense_Mutation_p.L5169F|NEB_uc021vrd.1_Missense_Mutation_p.L5181F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5181					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCTTAAAAGATCAGGAGTA	0.468000														69			39		0	0	0.003610	0	0
ERBB2	2064	broad.mit.edu	37	17	37879848	37879848	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:37879848C>T	uc002hso.3	+	17	2381	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	ERBB2_uc010cwa.3_Silent_p.L700L|ERBB2_uc002hsm.3_Silent_p.L685L|ERBB2_uc002hsp.3_Silent_p.L518L|ERBB2_uc010cwb.3_Silent_p.L715L|ERBB2_uc010wek.2_Silent_p.L439L|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	715					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATGCGGATCCTGAAAGAGAC	0.662000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				3			14		0	0	0.003163	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288944	98288944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:98288944G>A	uc003yhy.3	-	0	1233	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	377					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.N376I(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AACTGCAAGGGATTGGGCCAC	0.463000														203			69		0	0	0.003610	0	0
FAM83C	128876	broad.mit.edu	37	20	33879710	33879710	+	Missense_Mutation	SNP	G	A	A	rs150022416		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33879710G>A	uc021wck.1	-	0	516	c.398C>T	c.(397-399)cCc>cTc	p.P133L	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	133										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)			TGGCACCTCGGGCCAGCCCAG	0.627000														134			44		0	0	0.003610	0	0
ROR1	4919	broad.mit.edu	37	1	64643921	64643921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:64643921C>T	uc001dbj.2	+	8	2596	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	733	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAATGAGATTCCTTCTAGGAG	0.498000														35			28		0	0	0.002445	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911593	38911593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:38911593C>T	uc021uub.1	-	3	546	c.332G>A	c.(331-333)gGg>gAg	p.G111E	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.G111E|RASGRP4_uc021uua.1_Missense_Mutation_p.G111E|RASGRP4_uc021uuc.1_Missense_Mutation_p.G111E|RASGRP4_uc021uud.1_Missense_Mutation_p.G111E|RASGRP4_uc021uue.1_Missense_Mutation_p.G111E|RASGRP4_uc021uuf.1_Missense_Mutation_p.G111E	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	111	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGGTGTCCCCTGTGGCCTT	0.587000														40			30		0	0	0.002096	0	0
TAOK2	9344	broad.mit.edu	37	16	29998371	29998372	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29998371_29998372CC>TT	uc010bzm.2	+	14	2834_2835	c.2799_2800CC>TT	c.(2797-2802)atccct>atTTct	p.P934S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P814S|TAOK2_uc002dva.2_Missense_Mutation_p.P927S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P754S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	927					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCCGACATCCCTCCTGAACC	0.649000														66			36		0	0	0.004672	0	0
C12orf35	55196	broad.mit.edu	37	12	32136638	32136638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:32136638C>T	uc001rks.3	+	3	3163	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	917										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CAGCTCTCTTCCCTTGAAAAT	0.378000														26			21		0	0	0.001216	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44555292C>T	uc010xdb.2	-	0	1158	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000														418			25		0	0	0.001271	0	0
OLFM4	10562	broad.mit.edu	37	13	53624759	53624759	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:53624759G>A	uc001vhl.3	+	4	1482	c.1386G>A	c.(1384-1386)ggG>ggA	p.G462G	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	462	Olfactomedin-like.				cell adhesion	extracellular space		p.G462V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAAACACAGGGAAAGAGGGCA	0.398000														27			32		0	0	0.002445	0	0
C15orf33	196951	broad.mit.edu	37	15	49659779	49659779	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:49659779C>T	uc001zxl.2	-	12	1431	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	379										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		CACGATTAAACTCTGGACCAG	0.333000														25			21		0	0	0.002299	0	0
LRP1B	53353	broad.mit.edu	37	2	141533700	141533700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141533700G>A	uc002tvj.1	-	32	6439	c.5467C>T	c.(5467-5469)Cat>Tat	p.H1823Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1823					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)		ACTTTCATATGAACTACCCCA	0.428000										TSP Lung(27;0.18)				36			16		0	0	0.000743	0	0
TRPM4	54795	broad.mit.edu	37	19	49693490	49693490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49693490G>A	uc002pmw.3	+	14	2153	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E	TRPM4_uc010emu.3_Missense_Mutation_p.G682E|TRPM4_uc010yak.2_Missense_Mutation_p.G146E|TRPM4_uc002pmx.3_Missense_Mutation_p.G508E|TRPM4_uc010emv.3_Missense_Mutation_p.G567E|TRPM4_uc010yal.2_Missense_Mutation_p.G328E|TRPM4_uc002pmy.3_Missense_Mutation_p.G24E	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	682					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTGGTGGGGAGATATGGCC	0.587000														88			56		0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152718116	152718116	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152718116C>T	uc021zhb.1	-	48	7574	c.7351_splice	c.e48-1	p.N2451_splice	SYNE1_uc003qot.4_Splice_Site_p.N2458_splice|SYNE1_uc003qou.4_Splice_Site_p.N2451_splice|SYNE1_uc010kjb.1_Splice_Site_p.N2434_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2451					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAAAATGTTCTGTTTCAGGA	0.383000										HNSCC(10;0.0054)				34			27		0	0	0.001512	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215495	134215495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:134215495G>A	uc003vrr.3	+	1	487	c.167G>A	c.(166-168)gGg>gAg	p.G56E		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	56					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CATGAAGTGGGGGAAGCCATC	0.502000														87			48		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38797420	38797420	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38797420G>A	uc003ciq.3	-	9	1320	c.1320C>T	c.(1318-1320)acC>acT	p.T440T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	440					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)	AGTGGAGAGAGGTTGTGTCAA	0.483000														46			52		0	0	0.003610	0	0
NFATC1	4772	broad.mit.edu	37	18	77246884	77246884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77246884C>T	uc010xfg.2	+	8	3182	c.2729C>T	c.(2728-2730)cCt>cTt	p.P910L	NFATC1_uc002lnd.3_Intron|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Missense_Mutation_p.P438L|NFATC1_uc002lnf.3_Missense_Mutation_p.P897L|NFATC1_uc002lng.3_Intron|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	910	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCCCTATTCCTGTAACGGTC	0.637000														37			15		0	0	0.004990	0	0
STXBP1	6812	broad.mit.edu	37	9	130422359	130422359	+	Silent	SNP	C	T	T	rs149736085		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130422359C>T	uc004brk.2	+	4	494	c.297C>T	c.(295-297)taC>taT	p.Y99Y	STXBP1_uc004brl.2_Silent_p.Y99Y	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	99					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CTGCTAAATACCGGGCTGCAC	0.527000														7			37		0	0	0.002222	0	0
BCL9	607	broad.mit.edu	37	1	147091892	147091892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:147091892C>T	uc001epq.3	+	7	2671	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L	BCL9_uc010ozr.1_Missense_Mutation_p.P570L	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	644	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGGGTCTCCCCCCAGGGATG	0.572000			T	"""IGH@, IGL@"""	B-ALL									26			20		0	0	0.001523	0	0
UTRN	7402	broad.mit.edu	37	6	144774947	144774947	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:144774947C>T	uc003qkt.3	+	17	2318	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	UTRN_uc010khq.1_Silent_p.I742I	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	742	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)		GAGAAAGAATCCCCAGAGCAG	0.348000														53			35		0	0	0.001287	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849006	131849006	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:131849006G>A	uc003vra.4	-	23	4624	c.4395C>T	c.(4393-4395)atC>atT	p.I1465I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1465						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTGCTGCTTGATGGCACAGA	0.577000														5			27		0	0	0.002096	0	0
C1orf65	164127	broad.mit.edu	37	1	223568241	223568241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223568241G>A	uc001hoa.2	+	0	1527	c.1424G>A	c.(1423-1425)aGg>aAg	p.R475K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	475										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGCGAGCTGAGGGAGAAGGCC	0.597000														20			14		0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92086077	92086077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92086077C>T	uc001pdj.4	+	0	816	c.799C>T	c.(799-801)Cat>Tat	p.H267Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	267	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H267N(2)		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)				CCCAACAATCCATGTAGTCAC	0.443000										TCGA Ovarian(4;0.039)				288			170		0	0	0.003610	0	0
ADAM18	8749	broad.mit.edu	37	8	39468050	39468050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39468050G>A	uc003xni.3	+	5	402	c.347G>A	c.(346-348)gGa>gAa	p.G116E	ADAM18_uc003xnh.3_Missense_Mutation_p.G116E|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.G116E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	116					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTTTCAGGGGATTTCTCCAG	0.269000														5			28		0	0	0.001271	0	0
FAT4	79633	broad.mit.edu	37	4	126373646	126373646	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126373646C>T	uc003ifj.4	+	8	11475	c.11475C>T	c.(11473-11475)tcC>tcT	p.S3825S	FAT4_uc011cgp.2_Silent_p.S2123S|FAT4_uc003ifi.1_Silent_p.S1303S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3825	EGF-like 1.				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						CTGTGAGCTCCGTATTAAAAA	0.507000														27			23		0	0	0.002299	0	0
ZNF786	136051	broad.mit.edu	37	7	148768999	148768999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:148768999G>A	uc003wfh.2	-	3	1002	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S	ZNF786_uc011kuk.1_Missense_Mutation_p.P252S|ZNF786_uc003wfi.2_Missense_Mutation_p.P203S	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTGCTGCGGGAGGCGGTGG	0.711000														12			15		0	0	0.004990	0	0
MYH1	4619	broad.mit.edu	37	17	10419944	10419944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10419944C>T	uc002gmo.3	-	2	110	c.16G>A	c.(16-18)Gag>Aag	p.E6K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	6	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGGCCATCTCAGAGTCGGAA	0.478000														8			41		0	0	0.001951	0	0
COL22A1	169044	broad.mit.edu	37	8	139838970	139838970	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139838970C>T	uc003yvd.3	-	5	1347	c.900G>A	c.(898-900)cgG>cgA	p.R300R		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	300	TSP N-terminal.				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)			TTTTCCTGAACCGGAAGGTTG	0.512000										HNSCC(7;0.00092)				52			14		0	0	0.002450	0	0
BMS1	9790	broad.mit.edu	37	10	43279930	43279930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:43279930C>T	uc001jaj.3	+	1	446	c.88C>T	c.(88-90)Cag>Tag	p.Q30*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	30					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCAGGATCTCCAGCTAGGAGA	0.478000														31			37		0	0	0.004878	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453717	84453717	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:84453717G>A	uc001vlk.3	-	0	2812	c.1926C>T	c.(1924-1926)atC>atT	p.I642I		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	642						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTTCCTCAGGATAAACACGA	0.562000														7			11		0	0	0.001855	0	0
ZNF687	57592	broad.mit.edu	37	1	151259392	151259392	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:151259392A>C	uc001exq.3	+	1	723	c.625A>C	c.(625-627)Atg>Ctg	p.M209L	ZNF687_uc001exp.1_Missense_Mutation_p.M218L|ZNF687_uc009wmo.3_Missense_Mutation_p.M209L|ZNF687_uc009wmp.3_Missense_Mutation_p.M209L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	209	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCCCAGGCATGCAGCCACC	0.647000														45			17		0	0	0.001216	0	0
EFNB2	1948	broad.mit.edu	37	13	107145751	107145751	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:107145751G>A	uc001vqi.3	-	4	715	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	213					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGAATGTCCGGCGCTGTTGC	0.527000														10			27		0	0	0.001512	0	0
FMO5	2330	broad.mit.edu	37	1	146658672	146658672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:146658672G>A	uc001epi.2	-	8	1798	c.1409C>T	c.(1408-1410)cCa>cTa	p.P470L	FMO5_uc001eph.4_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	470						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATAGTGGATTGGAGTGCAGGG	0.532000														25			22		0	0	0.002299	0	0
HHIP	64399	broad.mit.edu	37	4	145633170	145633170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145633170G>A	uc003ijs.2	+	7	2050	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	457						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)		GACTCCAATGGAAAAAACAGA	0.358000														67			42		0	0	0.002522	0	0
LAMA1	284217	broad.mit.edu	37	18	7011389	7011389	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:7011389G>A	uc002knm.3	-	24	3691	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	LAMA1_uc010wzj.2_Silent_p.P675P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1199	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGAAGTCGGGGGCCTGGT	0.612000														15			9		0	0	0.004482	0	0
CLSPN	63967	broad.mit.edu	37	1	36226355	36226355	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:36226355G>A	uc001bzi.3	-	7	1247	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	CLSPN_uc009vux.3_Silent_p.I389I	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	389					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCCAGTAATGATCTGGGTTT	0.413000														68			35		0	0	0.004289	0	0
DCAF17	80067	broad.mit.edu	37	2	172305290	172305290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:172305290C>T	uc002ugx.3	+	3	748	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Missense_Mutation_p.L141F	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	141						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGGAAAAATCCTTGAGAAAAT	0.338000														65			33		0	0	0.003271	0	0
PIWIL3	440822	broad.mit.edu	37	22	25152644	25152644	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25152644G>A	uc003abd.1	-	4	801	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PIWIL3_uc011ajx.1_Silent_p.L19L|PIWIL3_uc010gut.1_Silent_p.L128L|PIWIL3_uc011ajy.1_Silent_p.L19L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	128					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTGGTTGGCGAGTAGCTGTA	0.428000														19			5		0	0	0.000602	0	0
NME8	51314	broad.mit.edu	37	7	37901710	37901710	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37901710G>A	uc003tfn.3	+	6	723	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	117	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCGATGAGGAGAGAAAAATTG	0.338000														28			21		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179600660	179600660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179600660G>A	uc021vsy.1	-	46	11006	c.10781C>T	c.(10780-10782)tCa>tTa	p.S3594L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S255L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4521							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)			CCAGTTAGGTGAAGGTGAGAG	0.438000														51			22		0	0	0.004656	0	0
CDH9	1007	broad.mit.edu	37	5	26903769	26903769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26903769C>T	uc003jgs.1	-	5	1145	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CDH9_uc010iug.3_Missense_Mutation_p.E326K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	326	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAATCCCTTCCTGTGTATCC	0.398000														85			67		0	0	0.003610	0	0
MYCN	4613	broad.mit.edu	37	2	16086192	16086192	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:16086192G>A	uc002rci.3	+	2	1668	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	MYCN_uc010yjr.2_Silent_p.K456K	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	456					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGTTGCTAAAGAAAATTGAAC	0.438000			A		neuroblastoma									79			61		0	0	0.003610	0	0
BC034929	0	broad.mit.edu	37	19	55703122	55703122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55703122G>A	uc002qjr.3	+	1	224	c.206G>A	c.(205-207)aGg>aAg	p.R69K	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjq.3_Intron					Homo sapiens, clone IMAGE:4553293, mRNA.																		GTGGGGAGGAGGCATCGGGAA	0.592000														41			22		0	0	0.003330	0	0
FFAR1	2864	broad.mit.edu	37	19	35842813	35842813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35842813C>T	uc002nzc.2	+	0	369	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	120					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TTCCGGAGGCCGTGCTATTCC	0.672000														30			19		0	0	0.001882	0	0
RNF165	494470	broad.mit.edu	37	18	44015303	44015303	+	Silent	SNP	C	T	T	rs61732298		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44015303C>T	uc002lcb.1	+	2	480	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RNF165_uc002lby.1_Silent_p.F76F|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	143							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ATCCCAGCTTCGACTTCGGCC	0.642000														29			15		0	0	0.000743	0	0
MYH15	22989	broad.mit.edu	37	3	108135770	108135770	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108135770G>A	uc003dxa.1	-	29	3954	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1299						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						GCCTCCGTAGGAACTCGCCTA	0.443000														28			21		0	0	0.001061	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276182	15276182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15276182G>A	uc002nan.3	-	30	5888	c.5812C>T	c.(5812-5814)Ctt>Ttt	p.L1938F		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1938					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AACCTACCAAGCTCATCCACA	0.557000														34			23		0	0	0.001061	0	0
ENPEP	2028	broad.mit.edu	37	4	111470887	111470887	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:111470887C>T	uc003iab.4	+	16	2688	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	782					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)	CCGTAAATCTCAGGCTTCTGG	0.393000														38			35		0	0	0.005524	0	0
TMCO4	255104	broad.mit.edu	37	1	20107098	20107099	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:20107098_20107099GG>AA	uc001bcn.3	-	3	395_396	c.153_154CC>TT	c.(151-156)tcccag>tcTTag	p.Q52*	TMCO4_uc001bco.1_Nonsense_Mutation_p.Q52*|TMCO4_uc001bcp.1_Nonsense_Mutation_p.Q52*|TMCO4_uc009vpn.1_Nonsense_Mutation_p.Q52*|TMCO4_uc001bcq.1_Nonsense_Mutation_p.Q52*	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	52						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAAATAACTGGGACAGGGAGA	0.599000														16			17		0	0	0.004672	0	0
FAM113B	91523	broad.mit.edu	37	12	47629002	47629002	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:47629002G>A	uc001rpq.3	+	1	681	c.156G>A	c.(154-156)ggG>ggA	p.G52G	FAM113B_uc001rpn.3_Silent_p.G52G|FAM113B_uc021qxi.1_Silent_p.G52G	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	52							hydrolase activity	p.R51G(1)|p.R51R(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GAGCAAGGGGGGAGCTGAACT	0.612000														22			15		0	0	0.003163	0	0
FAT4	79633	broad.mit.edu	37	4	126370701	126370701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126370701C>T	uc003ifj.4	+	8	8530	c.8530C>T	c.(8530-8532)Cga>Tga	p.R2844*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R1142*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R322*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2844	Cadherin 27.				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						TTACAGAATTCGAGTTTCCGC	0.393000														29			28		0	0	0.001061	0	0
MYH8	4626	broad.mit.edu	37	17	10314225	10314225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10314225C>T	uc002gmm.2	-	14	1551	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	486	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAGTTTCTCGTTGGTGAAG	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					16			81		0	0	0.003610	0	0
EMP1	2012	broad.mit.edu	37	12	13366658	13366658	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:13366658C>T	uc001rbr.3	+	3	466	c.219C>T	c.(217-219)atC>atT	p.I73I	EMP1_uc009zhy.3_Silent_p.I6I|EMP1_uc010shr.1_Silent_p.I73I	NM_001423	NP_001414	P54849	EMP1_HUMAN	Homo sapiens epithelial membrane protein 1 (EMP1), mRNA.	73					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCTCTATCATCTTCTGTGTCA	0.537000														80			52		0	0	0.003610	0	0
RRP15	51018	broad.mit.edu	37	1	218504303	218504303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:218504303C>T	uc001hlj.3	+	4	749	c.719C>T	c.(718-720)tCa>tTa	p.S240L		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	240						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GAAGTGAAATCAGAAGAAGGC	0.383000														30			13		0	0	0.004007	0	0
AKAP14	158798	broad.mit.edu	37	X	119037548	119037548	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:119037548C>T	uc004ese.3	+	4	399	c.261_splice	c.e4+1	p.S87_splice	AKAP14_uc004esd.3_Missense_Mutation_p.S87L|AKAP14_uc004esf.3_Splice_Site_p.S87_splice	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	87						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GAATATTTTTCGGTAAGTTAG	0.413000														2			17		0	0	0.004007	0	0
OR4C11	219429	broad.mit.edu	37	11	55371018	55371018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55371018G>A	uc010rii.2	-	0	857	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTGAGAAAGGGTGTTCCAATA	0.398000														26			35		0	0	0.003755	0	0
RNF175	285533	broad.mit.edu	37	4	154649452	154649452	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154649452C>T	uc003int.3	-	3	681	c.308G>A	c.(307-309)tGg>tAg	p.W103*	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	103						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CAGAAACCGCCACCAGTATAA	0.453000														49			18		0	0	0.000958	0	0
ZEB1	6935	broad.mit.edu	37	10	31816045	31816045	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31816045G>A	uc001ivs.4	+	8	3291	c.3228G>A	c.(3226-3228)gaG>gaA	p.E1076E	ZEB1_uc001ivr.4_Silent_p.E858E|ZEB1_uc010qef.2_Silent_p.E858E|ZEB1_uc001ivu.4_Silent_p.E1077E|ZEB1_uc010qeh.2_Silent_p.E1009E|ZEB1_uc001ivv.4_Silent_p.E1056E|ZEB1_uc001ivt.4_Silent_p.E858E|ZEB1_uc009xlo.2_Silent_p.E1059E|ZEB1_uc009xlp.3_Silent_p.E1060E	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1076	Glu-rich (acidic).				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)				aagaagaagaggtagaagagg	0.443000														6			6		0	0	0.001984	0	0
OR5H2	79310	broad.mit.edu	37	3	98001920	98001920	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:98001920C>T	uc003dsj.1	+	0	189	c.189C>T	c.(187-189)ccC>ccT	p.P63P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTCACATCCCCATGTACTTTT	0.418000														147			91		0	0	0.003610	0	0
CD109	135228	broad.mit.edu	37	6	74516594	74516594	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74516594C>T	uc003php.3	+	24	3419	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F	CD109_uc003phq.3_Silent_p.F996F|CD109_uc010kba.3_Silent_p.F919F	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	996						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAGATGTTTCCTTGAAGCCG	0.343000														18			13		0	0	0.004007	0	0
MYH15	22989	broad.mit.edu	37	3	108117571	108117571	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108117571G>A	uc003dxa.1	-	35	5163	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1702						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						GCTCTTGCAGGGACCTTAGAT	0.522000														102			71		0	0	0.003610	0	0
S100A7A	338324	broad.mit.edu	37	1	153391710	153391710	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:153391710C>T	uc001fbt.1	+	2	288	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	77	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTTCTGTCCTTGCTGGGAG	0.517000														26			25		0	0	0.004656	0	0
MED13	9969	broad.mit.edu	37	17	60061676	60061676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:60061676G>A	uc002izo.3	-	14	2821	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	915					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCAAACATGGAACATCCCAC	0.373000														5			31		0	0	0.001786	0	0
WNT7A	7476	broad.mit.edu	37	3	13916496	13916496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:13916496C>T	uc003bye.1	-	1	551	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	82					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.R81C(1)|p.R81S(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAGAGCAGTTCCAGCGGCCAT	0.602000														29			5		0	0	0.001984	0	0
PLCG1	5335	broad.mit.edu	37	20	39793702	39793702	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:39793702C>T	uc002xjp.1	+	12	1468	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	PLCG1_uc002xjo.1_Silent_p.L449L|PLCG1_uc010zwe.1_Silent_p.L75L|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	449	PI-PLC X-box.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCGACGGGCTCCCCTCACCCA	0.592000														17			19		0	0	0.001523	0	0
NBPF10	100132406	broad.mit.edu	37	1	144825421	144825421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:144825421C>T	uc009wig.1	+	17	2335	c.2141C>T	c.(2140-2142)tCg>tTg	p.S714L	NBPF10_uc010oxo.1_Missense_Mutation_p.S641L|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.S531L|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.S517L|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.S376L	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	716										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)		AGATGGTATTCGACTCCTTCA	0.488000														59			68		0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79034938	79034938	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79034938C>T	uc003kgc.3	+	1	10422	c.10350C>T	c.(10348-10350)gtC>gtT	p.V3450V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3450						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)		CTGAAGATGTCTTATCTCAAG	0.408000														5			9		0	0	0.000443	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055770	72055770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:72055770C>T	uc001xms.3	+	1	1542	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S394F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S394F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S394F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	394					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACCTGAATTCCAAAGGAAGC	0.517000														6			53		0	0	0.003610	0	0
PAK3	5063	broad.mit.edu	37	X	110439848	110439848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110439848C>T	uc010npv.1	+	13	1522	c.1495C>T	c.(1495-1497)Ctt>Ttt	p.L499F	PAK3_uc010npt.1_Missense_Mutation_p.L463F|PAK3_uc010npu.1_Missense_Mutation_p.L463F|PAK3_uc004eoy.1_Missense_Mutation_p.L218F|PAK3_uc004eoz.2_Missense_Mutation_p.L463F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.L484F|PAK3_uc004epa.2_Missense_Mutation_p.L478F	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	478	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACCCCCTTACCTTAATGAAAA	0.438000										TSP Lung(19;0.15)				5			25		0	0	0.001061	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983931	51983931	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51983931C>T	uc002pwv.1	+	2	580	c.580C>T	c.(580-582)Cta>Tta	p.L194L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	194						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGAGGTTCTAGGTGGGTT	0.527000														17			16		0	0	0.004007	0	0
MADD	8567	broad.mit.edu	37	11	47350616	47350616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47350616C>T	uc001ner.1	+	35	5050	c.4859C>T	c.(4858-4860)tCc>tTc	p.S1620F	MADD_uc001neq.2_Missense_Mutation_p.S1561F|MADD_uc001nev.1_3'UTR|MADD_uc001nes.1_Missense_Mutation_p.S1538F|MADD_uc001net.1_Missense_Mutation_p.S1581F|MADD_uc009yln.1_Missense_Mutation_p.S1514F|MADD_uc001neu.1_Missense_Mutation_p.S1518F|MADD_uc001nez.2_Missense_Mutation_p.S1517F|MADD_uc001new.2_Missense_Mutation_p.S1560F|MADD_uc001nex.2_3'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1620					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity	p.S1620F(4)|p.S1620S(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATCTGCTACTCCGTATTATGT	0.537000														56			32		0	0	0.001287	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874769	24874769	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24874769G>A	uc001isb.2	-	25	4936	c.4449C>T	c.(4447-4449)ccC>ccT	p.P1483P	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1482					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTCGTGCTGGGGTCTTTCC	0.428000														106			102		0	0	0.003610	0	0
WFDC2	10406	broad.mit.edu	37	20	44098461	44098461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44098461C>T	uc002xoo.3	+	0	68	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Missense_Mutation_p.L14F	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	14					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CGCCGCCCTCCTCCTCAGCCT	0.692000														6			14		0	0	0.003163	0	0
PDIA4	9601	broad.mit.edu	37	7	148702429	148702429	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:148702429G>A	uc003wff.2	-	8	1608	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	442					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGAAGTCCTTGGCCACCTCTA	0.577000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			21		0	0	0.003330	0	0
CLCA4	22802	broad.mit.edu	37	1	87045066	87045066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87045066G>A	uc009wcs.3	+	12	2196	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	CLCA4_uc009wct.3_Missense_Mutation_p.E481K|CLCA4_uc009wcu.3_Missense_Mutation_p.E538K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	718						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)		GCCAAGACCTGAAATTGATGA	0.438000														46			30		0	0	0.005524	0	0
OR8S1	341568	broad.mit.edu	37	12	48920047	48920047	+	Silent	SNP	C	T	T	rs139022158	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48920047C>T	uc010slu.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(4)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGGAAACTTCCTTTTGGTCT	0.537000														30			22		0	0	0.002780	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147171	26147171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:26147171G>A	uc002dof.3	+	1	1365	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	325					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CGGGCTGATCGATGCTTCCTG	0.542000														68			62		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183650188	183650188	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183650188G>A	uc003ivd.1	+	12	2514	c.2439G>A	c.(2437-2439)cgG>cgA	p.R813R	ODZ3_uc003ive.1_Silent_p.R219R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	813					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)		CCTATTGTCGGGGACTGCCGG	0.478000														35			17		0	0	0.004990	0	0
PLCB1	23236	broad.mit.edu	37	20	8639267	8639267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:8639267G>A	uc002wnb.3	+	8	781	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	PLCB1_uc010zrb.1_Missense_Mutation_p.E159K|PLCB1_uc002wna.3_Missense_Mutation_p.E260K|PLCB1_uc002wnc.1_Missense_Mutation_p.E159K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	260					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCGGCTTAATGAAATACTTTA	0.383000														47			7		0	0	0.001984	0	0
SCN5A	6331	broad.mit.edu	37	3	38597962	38597962	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38597962G>A	uc021wvo.1	-	23	4459	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	SCN5A_uc021wvk.1_Silent_p.I1468I|SCN5A_uc021wvl.1_Silent_p.I1415I|SCN5A_uc021wvm.1_Silent_p.I1451I|SCN5A_uc021wvn.1_Silent_p.I1468I|SCN5A_uc021wvp.1_Silent_p.I1469I|SCN5A_uc021wvq.1_Silent_p.I1468I|SCN5A_uc021wvr.1_Silent_p.I1469I|SCN5A_uc021wvs.1_Silent_p.I1469I|SCN5A_uc021wvt.1_Silent_p.I1468I|SCN5A_uc021wvu.1_Silent_p.I1415I|SCN5A_uc021wvv.1_Silent_p.I1451I|SCN5A_uc021wvj.1_Silent_p.I1281I|SCN5A_uc021wvi.1_Silent_p.I1335I|SCN5A_uc021wvw.1_Silent_p.I1061I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1469					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)	AGTTGTCAATGATGACACCAA	0.493000														8			4		0	0	0.000602	0	0
KANSL3	55683	broad.mit.edu	37	2	97274369	97274369	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97274369G>A	uc002swn.4	-	13	1763	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	KANSL3_uc002swh.4_Silent_p.S427S|KANSL3_uc002swi.4_Silent_p.S440S|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Silent_p.S452S|KANSL3_uc010fhz.3_Silent_p.S333S|KANSL3_uc002swl.4_Silent_p.S440S|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Silent_p.S333S|KANSL3_uc002swp.1_Silent_p.S440S	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	539																	TCTTGGGACTGGAGGTGGGGC	0.522000														41			12		0	0	0.003163	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200153	26200153	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:26200153A>G	uc003ngx.3	+	0	367	c.367A>G	c.(367-369)Acc>Gcc	p.T123A	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CACCAAGTACACCAGCTCTAA	0.522000														18			16		0	0	0.004007	0	0
CACNA1S	779	broad.mit.edu	37	1	201039456	201039456	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201039456C>T	uc001gvv.3	-	16	2531	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	768					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)	GCACGGCCTTCTCTTTCAGCT	0.597000														79			27		0	0	0.001271	0	0
PARK2	5071	broad.mit.edu	37	6	162622263	162622263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:162622263C>T	uc021zhu.1	-	4	666	c.575G>A	c.(574-576)aGc>aAc	p.S192N	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Missense_Mutation_p.S145N|PARK2_uc021zhs.1_Missense_Mutation_p.S145N|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.S145N|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Missense_Mutation_p.S66N|PARK2_uc021zhw.1_Intron|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Missense_Mutation_p.S145N|PARK2_uc010kke.1_Missense_Mutation_p.S145N	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	145			M -> L (in dbSNP:rs9456735).|M -> V (in PARK; early and late onset; dbSNP:rs9456735).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R191R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACATAAAAGCTGTTGTAGAT	0.458000														35			22		0	0	0.002299	0	0
OR51I1	390063	broad.mit.edu	37	11	5462550	5462550	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5462550G>A	uc010qze.2	-	0	234	c.195C>T	c.(193-195)ctC>ctT	p.L65L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGAGCATAGAGAGGAAGTAGT	0.448000														37			20		0	0	0.000958	0	0
SEC31B	25956	broad.mit.edu	37	10	102249868	102249868	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102249868G>A	uc001krc.1	-	20	2964	c.2862C>T	c.(2860-2862)acC>acT	p.T954T	SEC31B_uc010qpo.1_Silent_p.T953T|SEC31B_uc001krd.1_Silent_p.T491T|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	954	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAGGGGCTGGGGTGTGGGAGA	0.617000														44			29		0	0	0.003271	0	0
SEC24D	9871	broad.mit.edu	37	4	119665201	119665201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119665201G>A	uc003ici.4	-	14	2209	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.S647L|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	646					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAGCCCCAGCGAGGCCACGTC	0.502000														21			17		0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179498194	179498194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179498194C>T	uc021vsy.1	-	180	35413	c.35188G>A	c.(35188-35190)Gaa>Aaa	p.E11730K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5425K|TTN_uc021vta.1_Missense_Mutation_p.E5358K|TTN_uc021vtb.1_Missense_Mutation_p.E5233K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12657	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5233K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACATATTCGCCTTTATCT	0.428000														47			37		0	0	0.004878	0	0
ADAR	103	broad.mit.edu	37	1	154570414	154570414	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154570414G>A	uc001ffh.3	-	3	2066	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	ADAR_uc021pag.1_Silent_p.S313S|ADAR_uc001ffj.3_Silent_p.S608S|ADAR_uc001ffi.3_Silent_p.S608S|ADAR_uc001ffk.3_Silent_p.S313S	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	608					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CAGAAAAGAAGGATGTGGCTG	0.502000														24			16		0	0	0.004007	0	0
OR2G2	81470	broad.mit.edu	37	1	247751856	247751856	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247751856C>T	uc010pyy.2	+	0	195	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	65					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)			TGTATTTCTTCCTTTCTCATC	0.448000														76			82		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	2	90122085	90122085	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:90122085G>A	uc010yts.2	+	28		c.3225G>A								Parts of antibodies, mostly variable regions.																		GCAGCCTGCAGCCTGAAGATT	0.483000														45			19		0	0	0.004878	0	0
LPHN2	23266	broad.mit.edu	37	1	82433841	82433841	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:82433841C>T	uc001dit.4	+	12	2611	c.2430C>T	c.(2428-2430)caC>caT	p.H810H	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.H810H|LPHN2_uc001div.3_Silent_p.H810H|LPHN2_uc009wcd.3_Silent_p.H810H|LPHN2_uc001diw.3_Silent_p.H394H|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	823	GPS.				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)		CATGCAGCCACCTAACCAATT	0.428000														32			25		0	0	0.005443	0	0
GRIA2	2891	broad.mit.edu	37	4	158262426	158262426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:158262426G>A	uc003ipm.4	+	11	2314	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R	GRIA2_uc011cit.2_Missense_Mutation_p.G572R|GRIA2_uc003ipl.4_Missense_Mutation_p.G619R|GRIA2_uc003ipk.4_Missense_Mutation_p.G572R|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	619					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCCCTCTCTGGGCGCATTGT	0.393000														69			38		0	0	0.003214	0	0
ZNF79	7633	broad.mit.edu	37	9	130198199	130198199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130198199C>T	uc004bqw.4	+	3	659	c.245C>T	c.(244-246)tCc>tTc	p.S82F	ZNF79_uc011maf.2_Missense_Mutation_p.S58F|ZNF79_uc011mag.2_Missense_Mutation_p.S58F	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTTCCAGTTTCCCAGCCTGGC	0.507000														20			87		0	0	0.003610	0	0
C2orf54	79919	broad.mit.edu	37	2	241830990	241830991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241830990_241830991CC>TT	uc002wae.4	-	1	863_864	c.704_705GG>AA	c.(703-705)ggg>gAA	p.G235E	C2orf54_uc002wac.3_Missense_Mutation_p.G67E|C2orf54_uc002wad.3_Missense_Mutation_p.G86E	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	235										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGTCCACCCCTTGGCTGAG	0.678000														25			25		0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134084147	134084147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:134084147C>T	uc003iha.3	+	3	3639	c.2813C>T	c.(2812-2814)tCc>tTc	p.S938F		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	938					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GATCTCTTCTCCAATTGCACT	0.463000														39			24		0	0	0.001061	0	0
DTNA	1837	broad.mit.edu	37	18	32391971	32391971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:32391971G>A	uc010dmn.1	+	4	498	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	DTNA_uc002kxu.2_Missense_Mutation_p.R166Q|DTNA_uc010xbx.2_Missense_Mutation_p.R166Q|DTNA_uc002kxv.4_Missense_Mutation_p.R166Q|DTNA_uc002kxw.2_Missense_Mutation_p.R166Q|DTNA_uc002kxx.2_Missense_Mutation_p.R166Q|DTNA_uc002kxz.2_Missense_Mutation_p.R166Q|DTNA_uc002kxy.2_Missense_Mutation_p.R166Q|DTNA_uc010dmj.3_Missense_Mutation_p.R166Q|DTNA_uc002kyb.4_Missense_Mutation_p.R166Q|DTNA_uc010dml.3_Missense_Mutation_p.R166Q|DTNA_uc010dmm.3_Missense_Mutation_p.R166Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	166	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTTATGGACGATATGACCAA	0.413000														36			20		0	0	0.001216	0	0
C17orf53	78995	broad.mit.edu	37	17	42232019	42232019	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42232019C>T	uc002ifi.2	+	5	1785	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	C17orf53_uc010czq.2_Silent_p.F515F|C17orf53_uc002ifj.2_Silent_p.F440F|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	516										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTGTGGTTTTCAAGGACCCCA	0.552000														12			51		0	0	0.003610	0	0
KLK9	284366	broad.mit.edu	37	19	51506442	51506442	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51506442G>A	uc002pux.1	-	4	765	c.678C>T	c.(676-678)tcC>tcT	p.S226S	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Silent_p.S197S|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'UTR|KLK8_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	226	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCCGGGGTCTGGAGCAGGGCT	0.637000														25			24		0	0	0.003954	0	0
KANK4	163782	broad.mit.edu	37	1	62740337	62740337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62740337C>T	uc001dah.4	-	2	816	c.439G>A	c.(439-441)Gat>Aat	p.D147N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	147										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCTCGGCATCCTCTGGCTCA	0.612000														22			10		0	0	0.000443	0	0
GRIK3	2899	broad.mit.edu	37	1	37335351	37335351	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37335351G>A	uc001caz.2	-	4	919	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	GRIK3_uc001cba.1_Silent_p.L262L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	262					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TACATTACCAGAGTGGTGAAG	0.547000														32			20		0	0	0.002299	0	0
COL3A1	1281	broad.mit.edu	37	2	189869026	189869026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189869026G>A	uc002uqj.1	+	39	2984	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	956	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACTGGAGCACGGGGTCTTGCA	0.512000														15			10		0	0	0.001368	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337053	99337053	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:99337053C>T	uc001vno.3	-	22	2129	c.2052G>A	c.(2050-2052)gaG>gaA	p.E684E		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	684					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCTTTTCATCCTCATCAAATT	0.448000														3			26		0	0	0.005443	0	0
CCDC110	256309	broad.mit.edu	37	4	186380586	186380586	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:186380586G>A	uc003ixu.4	-	5	1231	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	CCDC110_uc003ixv.4_Silent_p.L348L|CCDC110_uc011ckt.1_Silent_p.L385L	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	385						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGTTTGGTCGAGGAAGGACA	0.303000														115			66		0	0	0.003610	0	0
FAM194A	131831	broad.mit.edu	37	3	150404137	150404137	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:150404137C>T	uc003eyg.3	-	3	615	c.558G>A	c.(556-558)aaG>aaA	p.K186K	FAM194A_uc003eyh.3_Silent_p.K40K	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	186										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TAGAGGCTTTCTTCCCTGTGA	0.363000														33			25		0	0	0.004656	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656048	46656048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:46656048G>A	uc003bhh.3	-	0	3172	c.3172C>T	c.(3172-3174)Ctc>Ttc	p.L1058F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1058					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACACAGGGAGGCAGACTACA	0.562000														13			10		0	0	0.000443	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999873	124999873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:124999873G>A	uc010flu.3	+	2	648	c.284G>A	c.(283-285)gGa>gAa	p.G95E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G95E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	95	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCACGCAGGGAAGATACGGA	0.527000														2			8		0	0	0.003080	0	0
WNT3A	89780	broad.mit.edu	37	1	228238550	228238550	+	Silent	SNP	C	T	T	rs141170201		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:228238550C>T	uc001hrp.2	+	2	614	c.507C>T	c.(505-507)ttC>ttT	p.F169F	WNT3A_uc001hrq.2_Silent_p.F169F	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	169					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.F169F(2)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTCGGGAGTTCGCCGACGCCC	0.672000														14			24		0	0	0.003954	0	0
PRPH2	5961	broad.mit.edu	37	6	42689943	42689943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:42689943C>T	uc003osk.3	-	0	416	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	44				E -> G (in Ref. 4; AAH74720).	cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TTTCGGAGTTCAATCTTCAGG	0.502000														37			33		0	0	0.003271	0	0
ZNF208	7757	broad.mit.edu	37	19	22154225	22154225	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22154225T>A	uc021urr.1	-	3	3760	c.3611A>T	c.(3610-3612)aAa>aTa	p.K1204I	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)				CTTATAGGCTTTGCCACATTC	0.388000														19			11		0	0	0.001368	0	0
NRIP1	8204	broad.mit.edu	37	21	16340338	16340338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:16340338G>A	uc021whl.1	-	0	176	c.176C>T	c.(175-177)cCc>cTc	p.P59L	NRIP1_uc002yjx.2_Missense_Mutation_p.P59L	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	59					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGACAGGTGGGAAATGCACT	0.473000														19			17		0	0	0.004990	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590675	136590675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136590675C>T	uc003qgx.1	-	8	2372	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Missense_Mutation_p.E705K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E705K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E534K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	707					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTCCCCGTTCTTTACTTCTT	0.388000														67			12		0	0	0.003163	0	0
IFNA6	3443	broad.mit.edu	37	9	21350703	21350703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21350703G>A	uc011lni.2	-	0	184	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	62					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			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCCTCCTGGGGAAATCTGAAG	0.512000														15			36		0	0	0.005524	0	0
PEG3	5178	broad.mit.edu	37	19	57325729	57325729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57325729C>T	uc002qnu.2	-	6	4432	c.4081G>A	c.(4081-4083)Gat>Aat	p.D1361N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D1332N|PEG3_uc002qnv.2_Missense_Mutation_p.D1361N|PEG3_uc002qnw.2_Missense_Mutation_p.D1237N|PEG3_uc002qnx.2_Missense_Mutation_p.D1235N|PEG3_uc010etr.2_Missense_Mutation_p.D1361N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1361	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		gctgctTCATCTTCTTCTTCT	0.453000														29			16		0	0	0.004007	0	0
CATSPERD	257062	broad.mit.edu	37	19	5763295	5763295	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5763295C>T	uc002mda.3	+	15	1558	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CATSPERD_uc010duj.1_Silent_p.I157I	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	499						integral to membrane											GTGTGGATATCAAGCCACTGG	0.443000														22			21		0	0	0.002299	0	0
CLIP4	79745	broad.mit.edu	37	2	29386753	29386753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29386753G>A	uc002rmv.3	+	12	1830	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R	CLIP4_uc002rmu.3_Missense_Mutation_p.G531R|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	531	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGGTTCAGTTGGAGGTGTGCA	0.378000														35			46		0	0	0.003610	0	0
THSD4	79875	broad.mit.edu	37	15	72037445	72037445	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:72037445G>A	uc002atb.1	+	11	1986	c.1907_splice	c.e11-1	p.G636_splice	THSD4_uc002ate.2_Splice_Site_p.G276_splice	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	636						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						GTTGTTGCAGGATCGCAGTAC	0.547000														152			116		0	0	0.003610	0	0
MCRS1	10445	broad.mit.edu	37	12	49958316	49958316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49958316G>A	uc001rui.1	-	4	544	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	MCRS1_uc001ruj.2_Missense_Mutation_p.R156W|MCRS1_uc001ruk.1_Missense_Mutation_p.R169W|MCRS1_uc009zlj.1_5'UTR	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	169					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding	p.R182R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGGACCTCCCGAAGGGTGAAG	0.602000														7			4		0	0	0.000248	0	0
MSGN1	343930	broad.mit.edu	37	2	17998085	17998085	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:17998085C>T	uc010yjt.2	+	0	300	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	100					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAGCTTTCCAGCCCACCC	0.647000														25			14		0	0	0.004007	0	0
SYT1	6857	broad.mit.edu	37	12	79693274	79693274	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:79693274G>A	uc001sys.3	+	8	1424	c.753G>A	c.(751-753)gtG>gtA	p.V251V	SYT1_uc001syt.3_Silent_p.V251V|SYT1_uc001syu.3_Silent_p.V248V|SYT1_uc001syv.3_Silent_p.V251V	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	251	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAACACAGTGGATTTTGGCC	0.428000														32			23		0	0	0.002299	0	0
SORCS2	57537	broad.mit.edu	37	4	7725424	7725424	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:7725424G>A	uc003gkb.4	+	19	2425	c.2425_splice	c.e19-1	p.G809_splice	SORCS2_uc011bwi.2_Splice_Site_p.G637_splice	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	809	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCTCTGCAGGGTGATGTCCT	0.552000														41			29		0	0	0.002096	0	0
TRPM6	140803	broad.mit.edu	37	9	77403532	77403532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:77403532C>T	uc004ajl.1	-	19	2903	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	TRPM6_uc004ajk.1_Missense_Mutation_p.E884K|TRPM6_uc022bib.1_Missense_Mutation_p.E884K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	889					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TAACTCACCTCCCTGACCACC	0.493000														12			60		0	0	0.003610	0	0
IL10RA	3587	broad.mit.edu	37	11	117869548	117869548	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117869548A>G	uc001prv.3	+	6	1006	c.929A>G	c.(928-930)aAc>aGc	p.N310S	IL10RA_uc010rxl.2_Missense_Mutation_p.N290S|IL10RA_uc010rxm.2_Missense_Mutation_p.N290S|IL10RA_uc010rxn.2_Missense_Mutation_p.N161S|IL10RA_uc001prw.3_Missense_Mutation_p.N161S	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	310						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GAGCTGAAGAACTTGGACCTG	0.597000														16			10		0	0	0.000443	0	0
ABCB1	5243	broad.mit.edu	37	7	87183213	87183213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87183213C>T	uc003uiz.2	-	9	1356	c.863G>A	c.(862-864)gGg>gAg	p.G288E	ABCB1_uc011khc.2_Missense_Mutation_p.G224E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	288	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G288W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTCTTTATCCCAATTCTTTT	0.358000														92			25		0	0	0.004656	0	0
EPHA3	2042	broad.mit.edu	37	3	89391080	89391080	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:89391080C>T	uc003dqy.3	+	4	1371	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	EPHA3_uc003dqx.1_Silent_p.F382F|EPHA3_uc021xbf.1_Silent_p.F382F	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	382	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.R381H(1)|p.R381R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGTCCGCTTCCTCCCTCGAC	0.473000										TSP Lung(6;0.00050)				23			23		0	0	0.003330	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763485	92763485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92763485C>T	uc003umh.1	-	4	3016	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	SAMD9L_uc003umj.1_Missense_Mutation_p.M600I|SAMD9L_uc003umi.1_Missense_Mutation_p.M600I|SAMD9L_uc010lfb.1_Missense_Mutation_p.M600I|SAMD9L_uc003umk.1_Missense_Mutation_p.M600I|SAMD9L_uc010lfc.1_Missense_Mutation_p.M600I|SAMD9L_uc010lfd.1_Missense_Mutation_p.M600I|SAMD9L_uc022ahh.1_Missense_Mutation_p.M600I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	600										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCATCTTCCATCTTCATTC	0.343000														24			113		0	0	0.003610	0	0
DIRC1	116093	broad.mit.edu	37	2	189599368	189599368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189599368C>T	uc021vtu.1	-	0	280	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	DIRC1_uc002uqi.1_Missense_Mutation_p.G94R	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	Homo sapiens disrupted in renal carcinoma 1 (DIRC1), mRNA.	94										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			ATTTTCCACCCCCTCAATGAG	0.383000														60			40		0	0	0.002522	0	0
TKT	7086	broad.mit.edu	37	3	53264514	53264514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:53264514G>A	uc003dgo.3	-	7	1238	c.1066C>T	c.(1066-1068)Ccg>Tcg	p.P356S	TKT_uc003dgp.2_5'UTR|TKT_uc011beo.1_Missense_Mutation_p.P309S|TKT_uc003dgq.3_Missense_Mutation_p.P356S|TKT_uc011beq.2_Missense_Mutation_p.P364S|TKT_uc011ber.2_Missense_Mutation_p.P158S	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	356					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	AAGCGGTCCGGGTGCTCCTTT	0.602000														21			9		0	0	0.000443	0	0
MCTP1	79772	broad.mit.edu	37	5	94275873	94275873	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:94275873T>A	uc003kkx.2	-	4	1088	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I	MCTP1_uc003kkv.2_Missense_Mutation_p.K142I|MCTP1_uc003kkw.2_Missense_Mutation_p.K142I|MCTP1_uc003kkz.2_Missense_Mutation_p.K24I	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	363					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATGAGGATCTTTCAGAGTAAG	0.373000														22			50		0	0	0.003610	0	0
ARAP2	116984	broad.mit.edu	37	4	36230380	36230380	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:36230380G>A	uc003gsq.2	-	1	1067	c.729C>T	c.(727-729)tcC>tcT	p.S243S	ARAP2_uc003gsr.1_Silent_p.S243S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	243					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAGAATGGGGATGGTGGTG	0.388000														64			31		0	0	0.001786	0	0
ATP1A2	477	broad.mit.edu	37	1	160098870	160098870	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160098870C>T	uc001fvc.3	+	9	1449	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	ATP1A2_uc001fvb.2_Silent_p.S439S|ATP1A2_uc001fvd.3_Silent_p.S175S|ATP1A2_uc009wtg.1_Silent_p.S127S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	439					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACATCTCCGTGTCTAAGG	0.567000														11			5		0	0	0.000602	0	0
HOXD3	3232	broad.mit.edu	37	2	177034194	177034194	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:177034194C>A	uc002ukt.1	+	1	528	c.352C>A	c.(352-354)Caa>Aaa	p.Q118K		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	118	Poly-Pro.				Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGccaccacaaccccctcc	0.637000														21			8		5.4927e-09	1.15074e-08	0.004482	1	0
NREP	9315	broad.mit.edu	37	5	111071187	111071187	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:111071187G>A	uc011cvr.2	-	2	345	c.153C>T	c.(151-153)ctC>ctT	p.L51L	NREP_uc011cvs.2_Silent_p.L41L|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Non-coding_Transcript|NREP_uc003kpl.3_Silent_p.L7L|NREP_uc003kpm.3_Silent_p.L7L|NREP_uc011cvk.2_Silent_p.L7L|NREP_uc011cvl.2_Silent_p.L7L|NREP_uc011cvm.2_Silent_p.L7L|NREP_uc011cvn.2_Silent_p.L7L|NREP_uc011cvo.2_Silent_p.L7L|NREP_uc011cvp.2_Silent_p.L7L|NREP_uc011cvq.2_Silent_p.L7L	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	7						cytoplasm											CCCAGACAAAGAGTTCTGGGT	0.388000														17			45		0	0	0.003610	0	0
ADCY5	111	broad.mit.edu	37	3	123014943	123014943	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:123014943G>A	uc003egh.2	-	16	3051	c.3051C>T	c.(3049-3051)ctC>ctT	p.L1017L	ADCY5_uc021xdd.1_Silent_p.L667L|ADCY5_uc003egg.2_Silent_p.L675L	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1017					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCAGTTTCCAGAGGAAGTCGA	0.637000														18			15		0	0	0.003163	0	0
PRSS58	136541	broad.mit.edu	37	7	141955111	141955111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141955111C>T	uc003vxb.3	-	2	520	c.200G>A	c.(199-201)gGg>gAg	p.G67E	PRSS58_uc003vxc.4_Missense_Mutation_p.G67E	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	67	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GATTGTAACCCCCAATATCAC	0.418000														68			30		0	0	0.004289	0	0
PDGFRA	5156	broad.mit.edu	37	4	55151583	55151583	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:55151583T>C	uc003han.4	+	16	2700	c.2369T>C	c.(2368-2370)cTt>cCt	p.L790P	PDGFRA_uc003haa.3_Missense_Mutation_p.L550P	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	790	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCAGAAGGCCTTACTTTATTG	0.398000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				50			36		0	0	0.001706	0	0
ZFHX3	463	broad.mit.edu	37	16	72829897	72829897	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72829897G>A	uc002fck.3	-	8	7357	c.6684C>T	c.(6682-6684)ccC>ccT	p.P2228P	ZFHX3_uc002fcl.3_Silent_p.P1314P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2228					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGCGAAGGGGGCCGGGAGT	0.527000														58			42		0	0	0.001951	0	0
CNTN4	152330	broad.mit.edu	37	3	2944560	2944560	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2944560G>A	uc003bpc.3	+	12	1417	c.1078_splice	c.e12-1	p.D360_splice	CNTN4_uc003bpb.1_Splice_Site_p.D32_splice|CNTN4_uc021wsg.1_Splice_Site_p.D360_splice|CNTN4_uc003bpd.1_Splice_Site_p.D360_splice|CNTN4_uc003bpe.3_Splice_Site_p.D32_splice|CNTN4_uc003bpf.3_Splice_Site_p.D32_splice	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	360	Ig-like C2-type 4.				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)		TCTTTCACAGGATAGAATTCA	0.358000														14			5		0	0	0.000602	0	0
COL14A1	7373	broad.mit.edu	37	8	121267583	121267583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121267583G>A	uc003yox.3	+	22	3122	c.2857G>A	c.(2857-2859)Gaa>Aaa	p.E953K	COL14A1_uc003yoy.3_Missense_Mutation_p.E631K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	953	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTTGTTATAGAATCCCTCCA	0.448000														71			38		0	0	0.001951	0	0
SCN8A	6334	broad.mit.edu	37	12	52096571	52096571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52096571G>A	uc001ryw.3	+	8	1185	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	SCN8A_uc010snl.2_Missense_Mutation_p.G336E|SCN8A_uc001ryx.1_Missense_Mutation_p.G201E|SCN8A_uc001ryz.1_Missense_Mutation_p.G201E|SCN8A_uc001ryy.2_Missense_Mutation_p.G201E	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	336					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCCCAGAGGGATACCAGTGT	0.413000														9			7		0	0	0.004482	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959365	45959365	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45959365G>A	uc002zfh.1	-	0	714	c.669C>T	c.(667-669)acC>acT	p.T223T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	223	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						TGCAGCAGGAGGTGGTGCAGC	0.657000														62			7		0	0	0.000443	0	0
PARD3B	117583	broad.mit.edu	37	2	205829921	205829921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:205829921G>A	uc002var.2	+	2	476	c.269G>A	c.(268-270)aGc>aAc	p.S90N	PARD3B_uc010fub.2_Missense_Mutation_p.S90N|PARD3B_uc002vao.2_Missense_Mutation_p.S90N|PARD3B_uc002vap.2_Missense_Mutation_p.S90N|PARD3B_uc002vaq.2_Missense_Mutation_p.S90N	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	90					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGATTGAGAGCCCCAGTGGA	0.483000														22			8		0	0	0.004482	0	0
TNR	7143	broad.mit.edu	37	1	175365860	175365860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175365860C>T	uc001gkp.1	-	2	1141	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	TNR_uc009wwu.1_Missense_Mutation_p.E354K|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	354	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATCACATATTCCGTCACTGCC	0.622000														42			41		0	0	0.002222	0	0
FLT3LG	2323	broad.mit.edu	37	19	49982275	49982276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49982275_49982276CC>TT	uc002pnu.3	+	5	562_563	c.452_453CC>TT	c.(451-453)tcc>tTT	p.S151F	FLT3LG_uc002pnw.3_Missense_Mutation_p.S69F|FLT3LG_uc010yau.2_Missense_Mutation_p.S151F|FLT3LG_uc002pnv.3_Missense_Mutation_p.S69F|FLT3LG_uc002pnx.3_Missense_Mutation_p.S151F|FLT3LG_uc010yav.2_Missense_Mutation_p.S69F	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	151					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAGAACTTCTCCCGGTGCCTGG	0.639000														10			6		0	0	0.004672	0	0
CASS4	57091	broad.mit.edu	37	20	55027236	55027236	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:55027236T>A	uc002xxp.2	+	5	1229	c.1004T>A	c.(1003-1005)tTt>tAt	p.F335Y	CASS4_uc002xxq.4_Missense_Mutation_p.F335Y|CASS4_uc010zze.1_Missense_Mutation_p.F281Y|CASS4_uc002xxr.2_Missense_Mutation_p.F335Y|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	335					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTTCAAGCTTTCTGATTCCC	0.453000														68			30		0	0	0.002096	0	0
KCNC2	3747	broad.mit.edu	37	12	75441937	75441937	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:75441937C>T	uc001sxg.1	-	3	2320	c.1776G>A	c.(1774-1776)agG>agA	p.R592R	KCNC2_uc009zry.3_Silent_p.R592R|KCNC2_uc001sxe.3_Silent_p.R592R|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	592					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCTACCTTTCCTGATCCCTC	0.408000														72			41		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113332163	113332163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113332163C>T	uc003ynu.3	-	45	7372	c.7213G>A	c.(7213-7215)Gaa>Aaa	p.E2405K	CSMD3_uc003yns.3_Missense_Mutation_p.E1607K|CSMD3_uc003ynt.3_Missense_Mutation_p.E2365K|CSMD3_uc011lhx.2_Missense_Mutation_p.E2301K|CSMD3_uc003ynw.1_Missense_Mutation_p.E116K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2405	Sushi 13.					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						GTCAAAATTTCAGCATTGGGC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				86			49		0	0	0.003610	0	0
DGAT1	8694	broad.mit.edu	37	8	145540555	145540555	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145540555T>A	uc003zbv.3	-	15	1540	c.1272A>T	c.(1270-1272)cgA>cgT	p.R424R		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	424					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGCGGAACATTCGCAGAGGGA	0.657000														16			10		0	0	0.000443	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994910	108994910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108994910G>A	uc002tea.1	+	0	490	c.117G>A	c.(115-117)tgG>tgA	p.W39*	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Nonsense_Mutation_p.W39*	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	39					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATAAGATCTGGAACTTCCAAG	0.473000														95			69		0	0	0.003610	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875709	4875709	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4875709T>C	uc010cku.2	-	15	3107	c.2695A>G	c.(2695-2697)Atg>Gtg	p.M899V	CAMTA2_uc002gag.2_Missense_Mutation_p.M875V|CAMTA2_uc002gah.2_Missense_Mutation_p.M876V|CAMTA2_uc002gai.2_Missense_Mutation_p.M878V|CAMTA2_uc010ckv.1_Missense_Mutation_p.M523V	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	876					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATGTCCTCCATAGTCATCTCA	0.612000														5			24		0	0	0.003954	0	0
CSRP3	8048	broad.mit.edu	37	11	19204265	19204265	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:19204265C>T	uc001mpk.2	-	5	654	c.537G>A	c.(535-537)acG>acA	p.T179T		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	179	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						ACCCAATACCCGTGGGGCCAA	0.438000														44			41		0	0	0.003214	0	0
KRT25	147183	broad.mit.edu	37	17	38911513	38911513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38911513C>T	uc002hve.3	-	0	72	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACTGGAAAGTCGAAGAGACAT	0.488000														5			22		0	0	0.003330	0	0
APP	351	broad.mit.edu	37	21	27354660	27354660	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:27354660G>A	uc002ylz.3	-	8	1421	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	APP_uc010glk.3_Silent_p.S383S|APP_uc002yma.3_Silent_p.S388S|APP_uc011ach.2_Silent_p.S351S|APP_uc021whz.1_Silent_p.S407S|APP_uc021wia.1_Silent_p.S388S|APP_uc002ymb.3_Silent_p.S332S|APP_uc010glj.3_Silent_p.S276S|APP_uc021wib.1_Silent_p.S332S|APP_uc011aci.2_Silent_p.S297S	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	407	Heparin-binding.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GACTTACCTGGGACATTCTCT	0.522000														48			33		0	0	0.003755	0	0
C8B	732	broad.mit.edu	37	1	57411647	57411647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57411647G>A	uc001cyp.3	-	6	1019	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	C8B_uc010oon.2_Missense_Mutation_p.L256F|C8B_uc010ooo.2_Missense_Mutation_p.L266F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	318	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTCTCTGAAGGAACTCGTAA	0.483000														34			23		0	0	0.002299	0	0
TCRA	0	broad.mit.edu	37	14	22539242	22539242	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22539242G>A	uc001wcy.3	+	1	149	c.138G>A	c.(136-138)caG>caA	p.Q46Q	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		TGATTCTCCAGGAGGGAGCCA	0.468000														31			22		0	0	0.002780	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331066	100331066	+	RNA	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:100331066G>T	uc021sxl.1	-	1		c.2087C>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TCCCAGAGGGGGCGGCCCCTC	0.512000														27			10		0.000673444	0.00140378	0.000673	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156948061	156948062	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156948061_156948062GG>AA	uc001fqo.3	-	5	1484_1485	c.444_445CC>TT	c.(442-447)atcccc>atTTcc	p.P149S	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P149S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	149					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGGTGAGGGGATCACTGACG	0.579000														37			17		0	0	0.004672	0	0
C15orf2	23742	broad.mit.edu	37	15	24923015	24923015	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:24923015C>T	uc001ywo.3	+	0	2475	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	667					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)		CCTGTGTTTTCCTGAGCCTTC	0.502000														39			34		0	0	0.003755	0	0
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:56270245C>T	uc003xsf.3	+	1	846	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	272						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383000														27			33		0	0	0.002836	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303319	151303319	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:151303319C>T	uc022cgz.1	-	0	774	c.774G>A	c.(772-774)ggG>ggA	p.G258G	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.G258G|MAGEA10_uc004ffm.2_Silent_p.G258G|MAGEA10_uc004ffl.3_Silent_p.G258G	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	258	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTCCATCCCATCATACA	0.527000														10			37		0	0	0.001287	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186880479	186880479	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:186880479C>T	uc001gsc.3	+	6	721	c.516C>T	c.(514-516)ctC>ctT	p.L172L	PLA2G4A_uc010pos.2_Intron	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	172	PLA2c.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGAAGAAACTCTTGGGTCCAA	0.388000														79			29		0	0	0.002445	0	0
OR4B1	119765	broad.mit.edu	37	11	48238673	48238673	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48238673C>T	uc010rhs.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	104					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						TCTTCCACTTCTTTGGGGTTG	0.423000														84			54		0	0	0.003610	0	0
OR5D18	219438	broad.mit.edu	37	11	55587576	55587576	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55587576C>T	uc010rin.2	+	0	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157S(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTCATGTTCCTTGGAACTGA	0.468000														56			55		0	0	0.003610	0	0
AOAH	313	broad.mit.edu	37	7	36616230	36616230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:36616230C>T	uc022abu.1	-	12	1372	c.971G>A	c.(970-972)tGg>tAg	p.W324*	AOAH_uc003tfh.4_Nonsense_Mutation_p.W324*|AOAH_uc011kba.2_Nonsense_Mutation_p.W292*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	324					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTTTCTTTTCCATAAGCGAAG	0.308000														101			41		0	0	0.003610	0	0
TRIM15	89870	broad.mit.edu	37	6	30140006	30140006	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30140006G>A	uc010jrx.3	+	6	1757	c.1278G>A	c.(1276-1278)gtG>gtA	p.V426V		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	426	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGGGGCAGGTGACCCTCCACA	0.637000														9			10		0	0	0.000443	0	0
LRRC7	57554	broad.mit.edu	37	1	70291500	70291500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:70291500C>T	uc001dep.3	+	2	407	c.377C>T	c.(376-378)cCc>cTc	p.P126L	LRRC7_uc001deo.1_Missense_Mutation_p.P164L|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	126						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTGTCAATCCCATTTCTAAG	0.264000														24			11		0	0	0.002450	0	0
MECR	51102	broad.mit.edu	37	1	29520672	29520672	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:29520672G>A	uc001brq.1	-	9	1020	c.984C>T	c.(982-984)atC>atT	p.I328I	MECR_uc001brp.1_Silent_p.I252I	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	328					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		ACAGTGTGAGGATCAGCTCCT	0.612000														74			42		0	0	0.001951	0	0
OPTC	26254	broad.mit.edu	37	1	203472062	203472062	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:203472062C>T	uc001gzu.1	+	5	869	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	251						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCTGCAGTTCCTTTACCTGT	0.577000														27			24		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9058027	9058027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9058027G>A	uc002mkp.3	-	2	29623	c.29419C>T	c.(29419-29421)Cat>Tat	p.H9807Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9809	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGAAGGATGAATTTTCTCT	0.448000														45			15		0	0	0.002450	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422832	11422832	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11422832C>T	uc002mqv.1	+	5	771	c.621C>T	c.(619-621)ctC>ctT	p.L207L	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	207						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TCCATAAACTCCTAAAAATCA	0.502000														26			13		0	0	0.004990	0	0
GRIK4	2900	broad.mit.edu	37	11	120856867	120856867	+	Silent	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:120856867C>G	uc001pxn.2	+	20	3056	c.2769C>G	c.(2767-2769)ccC>ccG	p.P923P	GRIK4_uc009zaw.1_Silent_p.P923P|GRIK4_uc009zax.1_Silent_p.P923P	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	923					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)	GCGTCTGCCCCGAGTGCCGCC	0.741000														9			3		0	0	0.004672	0	0
AKAP6	9472	broad.mit.edu	37	14	33291898	33291898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:33291898G>A	uc001wrq.3	+	12	5049	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1627	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.G1626A(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCAGTTGGTGAACTAAGTAA	0.403000														9			42		0	0	0.001287	0	0
PSMC3	5702	broad.mit.edu	37	11	47445718	47445718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47445718G>A	uc001nfh.2	-	5	664	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	157					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GATCAGATAGGAGTCTTTGTT	0.567000														54			31		0	0	0.003271	0	0
CAPN11	11131	broad.mit.edu	37	6	44144011	44144011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44144011G>A	uc003owt.1	+	8	975	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	313	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.M312I(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)			AGGCAAAATGGAAACACTGAT	0.587000														26			23		0	0	0.003330	0	0
USH2A	7399	broad.mit.edu	37	1	215972345	215972345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215972345C>T	uc001hku.1	-	49	10249	c.9862G>A	c.(9862-9864)Gat>Aat	p.D3288N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3288					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)		CCATGGCCATCATGAAGCCTC	0.512000										HNSCC(13;0.011)				32			48		0	0	0.003610	0	0
EYS	346007	broad.mit.edu	37	6	66115113	66115113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:66115113G>A	uc011dxu.1	-	5	1548	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	EYS_uc003peq.3_Missense_Mutation_p.S337L|EYS_uc003per.1_Missense_Mutation_p.S337L|EYS_uc021zbn.1_Missense_Mutation_p.S337L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	337	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S337L(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGTACTAATGAAAACTCACT	0.338000														57			51		0	0	0.003610	0	0
ZNF560	147741	broad.mit.edu	37	19	9578225	9578225	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9578225C>T	uc002mlp.1	-	9	1608	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G	ZNF560_uc010dwr.1_Silent_p.G360G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAAGGCCTTCCCATATTCCT	0.403000														199			123		0	0	0.003610	0	0
C18orf26	284254	broad.mit.edu	37	18	52265100	52265100	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52265100C>T	uc002lfq.1	+	2	403	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	119						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGGCTTGTCTCTTAGCCTGTG	0.373000														56			37		0	0	0.002222	0	0
WDFY3	23001	broad.mit.edu	37	4	85715819	85715819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85715819G>A	uc003hpd.3	-	20	3748	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1114						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTATTTGGAGGAGAACTAAAA	0.398000														27			25		0	0	0.002780	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369182	82369182	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:82369182G>A	uc001kck.1	+	6	1291	c.861_splice	c.e6-1	p.R287_splice	SH2D4B_uc001kcl.1_Missense_Mutation_p.R239K|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34K	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	286								p.?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CTCTTCAGCAGGACCTGGGAG	0.607000														24			17		0	0	0.004656	0	0
TMEM211	255349	broad.mit.edu	37	22	25331514	25331514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25331514G>A	uc003abk.1	-	2	201	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	130						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GATGAATGGGGAGGCAAGGCC	0.522000														27			15		0	0	0.003163	0	0
COL7A1	1294	broad.mit.edu	37	3	48613867	48613867	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48613867C>T	uc003ctz.2	-	69	5738	c.5737_splice	c.e69-1	p.G1913_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1913	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCACGGTCACCCTGAAAACA	0.627000														8			5		0	0	0.001984	0	0
OR52N5	390075	broad.mit.edu	37	11	5799757	5799757	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5799757G>A	uc010qzn.2	-	0	141	c.108C>T	c.(106-108)tcC>tcT	p.S36S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		AGAGTGGGAGGGAGATCCATA	0.383000														60			43		0	0	0.003214	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667774	70667774	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:70667774C>T	uc003xyl.3	-	3	1850	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	SLCO5A1_uc010lzb.3_Silent_p.K381K|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.K381K|SLCO5A1_uc010lzc.2_Silent_p.K381K	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	381	Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAAATTTTTTCTTTTTCTTTT	0.378000														61			20		0	0	0.001882	0	0
AIM1	202	broad.mit.edu	37	6	106987353	106987353	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:106987353C>T	uc003prh.3	+	6	4482	c.3570C>T	c.(3568-3570)tcC>tcT	p.S1190S	AIM1_uc003pri.3_5'Flank	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1190	Beta/gamma crystallin 'Greek key' 4.						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)		CTGACTTGTCCTTCTGGGATA	0.443000														62			42		0	0	0.001951	0	0
NCOR2	9612	broad.mit.edu	37	12	124831142	124831142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124831142G>A	uc021rga.1	-	30	4465	c.4348C>T	c.(4348-4350)Ccg>Tcg	p.P1450S	NCOR2_uc021rgb.1_Missense_Mutation_p.P1434S|NCOR2_uc010tbb.2_Missense_Mutation_p.P1443S|NCOR2_uc010tbc.2_Missense_Mutation_p.P1433S|NCOR2_uc021rgc.1_Missense_Mutation_p.P1433S|NCOR2_uc010tba.2_Missense_Mutation_p.P1451S|NCOR2_uc001ugj.1_Missense_Mutation_p.P1451S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1451					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCGGCCGCGGGGCCAGGGGC	0.731000														10			8		0	0	0.000673	0	0
GPR176	11245	broad.mit.edu	37	15	40093565	40093565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40093565G>A	uc001zkj.1	-	2	2182	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	GPR176_uc010uck.1_Missense_Mutation_p.P379L	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	439					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGTTCCACAGGGGCTGCCGG	0.582000														54			33		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179641978	179641978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179641978G>A	uc021vsy.1	-	26	4937	c.4712C>T	c.(4711-4713)tCc>tTc	p.S1571F	TTN_uc021vsz.1_Missense_Mutation_p.S1525F|TTN_uc021vta.1_Missense_Mutation_p.S1525F|TTN_uc021vtb.1_Missense_Mutation_p.S1525F|TTN_uc002unb.2_Missense_Mutation_p.S1571F|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1571	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I1571I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAGTCGGGAACCTTCCTT	0.388000														37			30		0	0	0.001271	0	0
RPA3	6119	broad.mit.edu	37	7	7676670	7676670	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:7676670G>A	uc003sri.3	-	7	1499	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_002947	NP_002938	P35244	RFA3_HUMAN	Homo sapiens replication protein A3, 14kDa (RPA3), mRNA.	109					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|cytoplasm|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		AAAACTGAGGGAAGTCATGGA	0.318000								Direct reversal of damage;Nucleotide excision repair (NER)						84			72		0	0	0.003610	0	0
GLI3	2737	broad.mit.edu	37	7	42116431	42116431	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:42116431G>A	uc011kbh.2	-	3	484	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GLI3_uc011kbg.2_Silent_p.F72F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	131					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGAGGATGGAAGGCAGGGA	0.423000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					28			24		0	0	0.004656	0	0
SLC27A4	10999	broad.mit.edu	37	9	131117433	131117433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:131117433G>A	uc004but.3	+	9	1711	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	476					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GATTGCCAAGGATGTCTTCAA	0.627000														2			14		0	0	0.002450	0	0
CACNB2	783	broad.mit.edu	37	10	18439852	18439852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:18439852G>A	uc001ipr.2	+	1	221	c.161G>A	c.(160-162)gGa>gAa	p.G54E	CACNB2_uc001ipt.2_Missense_Mutation_p.G54E|CACNB2_uc009xjz.1_Missense_Mutation_p.G54E|CACNB2_uc001ips.2_Missense_Mutation_p.G54E|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.G26E|CACNB2_uc001ipv.3_Missense_Mutation_p.G26E|CACNB2_uc009xka.2_Missense_Mutation_p.G26E	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	54					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATTTAAAGGATCTGATGGA	0.303000														67			34		0	0	0.002836	0	0
SQSTM1	8878	broad.mit.edu	37	5	179251261	179251261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:179251261G>A	uc003mkw.4	+	3	706	c.611G>A	c.(610-612)gGa>gAa	p.G204E	SQSTM1_uc011dgr.2_Missense_Mutation_p.G120E|SQSTM1_uc011dgs.2_Missense_Mutation_p.G120E|SQSTM1_uc003mkx.3_Missense_Mutation_p.G120E	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	204	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCCACCAGGAAACTGGAGC	0.622000														11			20		0	0	0.001523	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364647	142364647	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142364647C>T	uc003vzx.3	+	1	316	c.282C>T	c.(280-282)tcC>tcT	p.S94S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTAAATTCTCCCTGTCCCTAG	0.473000														6			55		0	0	0.003610	0	0
XCL1	6375	broad.mit.edu	37	1	168545900	168545900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:168545900C>T	uc001gfo.2	+	0	190	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	9					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of B cell chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of activated T cell proliferation|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CCTGGCCCTCCTTGGCATCTG	0.527000														51			36		0	0	0.001951	0	0
GPR123	84435	broad.mit.edu	37	10	134886493	134886493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:134886493G>A	uc001llw.3	+	2	527	c.527G>A	c.(526-528)gGg>gAg	p.G176E				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATTGCTTCTGGGAACAGTGTT	0.552000														8			5		0	0	0.001168	0	0
COL6A6	131873	broad.mit.edu	37	3	130285982	130285982	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:130285982G>A	uc010htl.3	+	3	1750	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	573	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						TCGGGATCAAGGAGGCCAACC	0.448000														72			49		0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659234	121659234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121659234C>T	uc003eep.2	+	20	2065	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	SLC15A2_uc011bjn.1_Missense_Mutation_p.P607S	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	638					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCCCCAGGCTCCCTCTAGCAT	0.493000														25			25		0	0	0.005443	0	0
CCDC19	25790	broad.mit.edu	37	1	159846395	159846395	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159846395G>A	uc001fui.3	-	9	1321	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.L350L|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	435						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGAACAGCCAGAGCGTGCTCC	0.547000														21			8		0	0	0.000443	0	0
SCN9A	6335	broad.mit.edu	37	2	167142872	167142872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167142872C>T	uc010fpl.3	-	10	1917	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.E397K|SCN9A_uc002uds.1_Missense_Mutation_p.E397K|SCN9A_uc002udt.1_Missense_Mutation_p.E397K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	526						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.H525P(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACCTCTTTTCATGTGCTCGC	0.438000														148			81		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3265514	3265514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:3265514G>A	uc022aqr.1	-	13	2368	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	CSMD1_uc011kwj.2_Missense_Mutation_p.P53S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	661	CUB 4.					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)		AGCTGGGAAGGCACTTCATTG	0.458000														3			14		0	0	0.002450	0	0
PCDH15	65217	broad.mit.edu	37	10	55626549	55626549	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55626549C>T	uc010qhy.1	-	27	3980	c.3585G>A	c.(3583-3585)gaG>gaA	p.E1195E	PCDH15_uc010qhq.2_Silent_p.E1195E|PCDH15_uc010qhr.2_Silent_p.E1190E|PCDH15_uc021pqv.1_Silent_p.E1190E|PCDH15_uc021pqw.1_Silent_p.E1202E|PCDH15_uc010qht.2_Silent_p.E1197E|PCDH15_uc021pqx.1_Silent_p.E1190E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.E1190E|PCDH15_uc021pqz.1_Silent_p.E1168E|PCDH15_uc010qhv.1_Silent_p.E1190E|PCDH15_uc010qhw.1_Silent_p.E1153E|PCDH15_uc010qhx.1_Silent_p.E1119E|PCDH15_uc010qhz.1_Silent_p.E1190E|PCDH15_uc010qia.1_Silent_p.E1168E|PCDH15_uc001jju.1_Silent_p.E1190E|PCDH15_uc010qib.1_Silent_p.E1168E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1190	Cadherin 11.				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.G1194*(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)				CTTCTTTTCCCTCTTTAATTG	0.363000										HNSCC(58;0.16)				47			33		0	0	0.005524	0	0
CD163	9332	broad.mit.edu	37	12	7651761	7651761	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7651761G>A	uc001qsz.3	-	3	609	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	CD163_uc001qta.3_Silent_p.L161L|CD163_uc009zfw.2_Silent_p.L161L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	161	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCACGCGTCAGCCTCATTTCC	0.413000														108			72		0	0	0.003610	0	0
C6orf170	221322	broad.mit.edu	37	6	121600266	121600266	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:121600266C>T	uc003pyo.1	-	15	1801	c.1733_splice	c.e15+1	p.S578_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc003pyp.1_Splice_Site_p.S97_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	578					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATAGCACATACCTTTCTTCAG	0.323000														35			25		0	0	0.004656	0	0
PTHLH	5744	broad.mit.edu	37	12	28116412	28116412	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:28116412C>T	uc001rik.3	-	2	696	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PTHLH_uc001ril.3_Silent_p.G131G|PTHLH_uc001rim.3_Silent_p.G131G|PTHLH_uc001rin.3_Silent_p.G131G	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	131					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.P130P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CCTTGCGTTTCCCGGGCTTGC	0.522000														48			27		0	0	0.001271	0	0
BABAM1	29086	broad.mit.edu	37	19	17389768	17389768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17389768C>T	uc002nfu.3	+	8	1019	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	BABAM1_uc002nfv.3_Missense_Mutation_p.H301Y|BABAM1_uc010ean.2_Intron|BABAM1_uc002nfw.3_Missense_Mutation_p.H301Y|ANKLE1_uc010xpm.1_5'Flank|ANKLE1_uc002nga.2_5'Flank|ANKLE1_uc010eao.1_5'Flank|ANKLE1_uc010xpn.1_5'Flank|ANKLE1_uc002nfy.2_5'Flank|ANKLE1_uc002nfz.2_5'Flank	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	301					G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						ACTGTTGGCCCACCCCCTGCA	0.597000														10			5		0	0	0.000602	0	0
HRNR	388697	broad.mit.edu	37	1	152188315	152188315	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152188315G>A	uc001ezt.1	-	2	5866	c.5790C>T	c.(5788-5790)tcC>tcT	p.S1930S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1930					keratinization		calcium ion binding|protein binding	p.S1930C(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)			AAGACTGACGGGAGCCAGACC	0.577000														565			39		0	0	0.001951	0	0
HYDIN	54768	broad.mit.edu	37	16	70866801	70866801	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70866801G>A	uc002ezr.3	-	79	13997	c.13846C>T	c.(13846-13848)Ctg>Ttg	p.L4616L	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.	4617										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)				GTTAGACTCAGAGGACTGCCT	0.557000														20			14		0	0	0.003954	0	0
LOC646813	646813	broad.mit.edu	37	11	50375370	50375370	+	RNA	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:50375370G>T	uc001nhe.2	+	2		c.261G>T			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TGAAGTTTATGGGAGGACTTA	0.378000														31			18		9.16793e-09	1.92032e-08	0.004990	1	0
KLHL1	57626	broad.mit.edu	37	13	70514274	70514274	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:70514274G>A	uc001vip.3	-	3	1706	c.912C>T	c.(910-912)ttC>ttT	p.F304F	KLHL1_uc010thm.2_Silent_p.F243F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	304					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)		GCTTCATGAGGAAGTGGCAGC	0.478000														7			15		0	0	0.004990	0	0
SATL1	340562	broad.mit.edu	37	X	84362877	84362877	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:84362877C>T	uc004een.3	-	0	1098	c.1098G>A	c.(1096-1098)acG>acA	p.T366T		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	179	N-acetyltransferase.|Substrate binding (By similarity).						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGCTTGGCTCGTGCTTGATT	0.532000														6			26		0	0	0.001271	0	0
TTN	7273	broad.mit.edu	37	2	179398114	179398114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179398114C>T	uc021vsy.1	-	306	95749	c.95524G>A	c.(95524-95526)Gaa>Aaa	p.E31842K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25537K|TTN_uc021vta.1_Missense_Mutation_p.E25470K|TTN_uc021vtb.1_Missense_Mutation_p.E25345K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32769	Fibronectin type-III 131.						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)			TGGATAATTTCAATGTTAGGC	0.478000														55			21		0	0	0.001882	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514445	50514445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:50514445G>A	uc003tpd.3	-	3	911	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	FIGNL1_uc003tpb.3_Missense_Mutation_p.R70C|FIGNL1_uc003tpc.3_Missense_Mutation_p.R181C|FIGNL1_uc003tpe.3_Missense_Mutation_p.R181C|FIGNL1_uc010kyy.3_Missense_Mutation_p.R181C|FIGNL1_uc022ada.1_Missense_Mutation_p.R181C	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	181					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.R181S(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGTTTCAAACGATTGCTCTCC	0.468000														111			69		0	0	0.003610	0	0
SUMF2	25870	broad.mit.edu	37	7	56141885	56141885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:56141885C>T	uc011kcw.2	+	3	446	c.415C>T	c.(415-417)Cca>Tca	p.P139S	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Missense_Mutation_p.P32S|SUMF2_uc003trv.3_Missense_Mutation_p.P139S|SUMF2_uc011kcy.2_Intron|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Missense_Mutation_p.P139S	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	120						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTGGCTTCCAGTGGAAAA	0.552000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			33		0	0	0.004878	0	0
PKDCC	91461	broad.mit.edu	37	2	42282532	42282532	+	Splice_Site	SNP	C	T	T	rs142280977	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:42282532C>T	uc002rsg.3	+	5	1401	c.1222_splice	c.e5+1	p.E408_splice		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	408	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GCAGCAGTACCGGTGAGTGGC	0.617000														13			6		0	0	0.001984	0	0
KDM1B	221656	broad.mit.edu	37	6	18197448	18197448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18197448C>T	uc003nco.1	+	3	596	c.521C>T	c.(520-522)cCt>cTt	p.P174L	KDM1B_uc003ncn.1_Missense_Mutation_p.P245L	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	377					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TATCTTCTCCCTAAGGACTAC	0.433000														24			14		0	0	0.001855	0	0
HK3	3101	broad.mit.edu	37	5	176314602	176314602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176314602C>T	uc003mfa.3	-	10	1542	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	HK3_uc003mez.3_Missense_Mutation_p.E40K	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	484	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|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)			AGGGTCTCCTCCAGCAGGCGC	0.657000														7			9		0	0	0.000673	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473132	175473133	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:175473132_175473133CC>TT	uc003fit.3	+	12	2202_2203	c.2115_2116CC>TT	c.(2113-2118)atccgg>atTTgg	p.R706W		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	706					proteolysis	integral to membrane	peptidase activity	p.I705S(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCATCCGCATCCGGATGCTGAA	0.475000														8			6		0	0	0.004672	0	0
RETNLB	84666	broad.mit.edu	37	3	108476021	108476021	+	Silent	SNP	G	A	A	rs145650386	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108476021G>A	uc003dxh.2	-	0	110	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	4					cell proliferation	extracellular region	hormone activity	p.P3P(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGGCAAGAGGACGGCCCCA	0.522000														21			9		0	0	0.000443	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644247	37644247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:37644247G>A	uc002ofo.1	-	4	785	c.554C>T	c.(553-555)cCc>cTc	p.P185L	ZNF585A_uc002ofm.1_Missense_Mutation_p.P130L|ZNF585A_uc002ofn.1_Missense_Mutation_p.P130L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATTTAAAGGGTTTCTCTCT	0.403000														58			42		0	0	0.001951	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617118	77617118	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77617118C>T	uc003yau.2	+	1	1182	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZFHX4_uc003yat.1_Silent_p.F265F|ZFHX4_uc003yaw.1_Silent_p.F265F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	265						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)			TGTCCAAATTCGATGGTTGTG	0.423000										HNSCC(33;0.089)				61			23		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179468711	179468711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179468711G>A	uc021vsy.1	-	230	47224	c.46999C>T	c.(46999-47001)Cgt>Tgt	p.R15667C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9362C|TTN_uc021vta.1_Missense_Mutation_p.R9295C|TTN_uc021vtb.1_Missense_Mutation_p.R9170C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16594	Ig-like 98.						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)			TCAAGCAAACGAGGAACATTA	0.473000														135			99		0	0	0.003610	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803554	160803554	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:160803554T>C	uc003fdv.3	-	4	1408	c.989A>G	c.(988-990)cAt>cGt	p.H330R	B3GALNT1_uc003fdw.3_Missense_Mutation_p.H330R|B3GALNT1_uc003fdx.3_Missense_Mutation_p.H330R|B3GALNT1_uc003fdy.3_Missense_Mutation_p.H330R|B3GALNT1_uc003fdz.3_Missense_Mutation_p.H330R|B3GALNT1_uc003fea.3_Missense_Mutation_p.H330R|B3GALNT1_uc011bpa.2_Missense_Mutation_p.H90R|B3GALNT1_uc021xgw.1_Missense_Mutation_p.H330R	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	330					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAGTTAATAATGGCATGTGGT	0.418000														41			17		0	0	0.001523	0	0
CYBRD1	79901	broad.mit.edu	37	2	172411207	172411207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:172411207G>A	uc002ugy.4	+	3	921	c.731G>A	c.(730-732)gGa>gAa	p.G244E	CYBRD1_uc002ugz.4_3'UTR	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	244					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						ACTGAACAGGGAGCAAGAGGT	0.463000														14			14		0	0	0.003163	0	0
DSCAM	1826	broad.mit.edu	37	21	41648155	41648155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41648155C>T	uc002yyq.1	-	10	2677	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	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.	742	Ig-like C2-type 8.				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)				AACTTGGATTCGGCCATTTAG	0.512000														27			12		0	0	0.000978	0	0
EPHB3	2049	broad.mit.edu	37	3	184295756	184295756	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184295756C>T	uc003foz.3	+	7	2147	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	570						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGCTTGTCTTCGTGGTGGCTG	0.622000														47			27		0	0	0.003755	0	0
C21orf7	56911	broad.mit.edu	37	21	30532351	30532351	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:30532351G>A	uc002ynf.3	+	7	799	c.522G>A	c.(520-522)aaG>aaA	p.K174K	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Silent_p.K174K|C21orf7_uc010glo.3_Silent_p.K19K|C21orf7_uc002yng.3_Silent_p.K74K|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	174						cytosol|nucleus	protein binding	p.K174N(2)		ovary(2)|prostate(1)	3				Colorectal(56;0.248)		AGGTCAAAAAGGAAATCACCC	0.522000														53			26		0	0	0.001061	0	0
GUCA1B	2979	broad.mit.edu	37	6	42156425	42156425	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:42156425G>A	uc003orz.3	-	1	388	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	84	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCTCAGCACGAGATTCAGAG	0.552000														22			9		0	0	0.004482	0	0
WFS1	7466	broad.mit.edu	37	4	6303634	6303634	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:6303634C>T	uc003giy.3	+	7	2278	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	WFS1_uc003gix.3_Silent_p.F704F|WFS1_uc003giz.3_Silent_p.F522F	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	704					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGGCCGCTTCAAGTACGTCC	0.652000														100			50		0	0	0.003610	0	0
PRDM10	56980	broad.mit.edu	37	11	129772410	129772410	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:129772410C>T	uc001qfm.3	-	22	3512	c.3280_splice	c.e22-1	p.G1094_splice	PRDM10_uc001qfj.3_Splice_Site_p.G995_splice|PRDM10_uc001qfk.3_Splice_Site_p.G957_splice|PRDM10_uc001qfl.3_Splice_Site_p.G1008_splice|PRDM10_uc010sbx.2_Splice_Site_p.G1004_splice|PRDM10_uc001qfn.3_Splice_Site_p.G1090_splice	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1081					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)		CACATAATGACCCTAGAGGAA	0.478000														15			6		0	0	0.001168	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23059372	23059372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:23059372C>T	uc003xda.3	-	3	684	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	193					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCGGAAAGTTCCTGGTTTGCA	0.517000														11			37		0	0	0.003610	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227182600	227182600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:227182600G>A	uc001hqr.3	-	34	5895	c.4952C>T	c.(4951-4953)tCc>tTc	p.S1651F	CDC42BPA_uc001hqq.3_Missense_Mutation_p.S950F|CDC42BPA_uc001hqs.3_Missense_Mutation_p.S1570F|CDC42BPA_uc009xes.3_Missense_Mutation_p.S1623F|CDC42BPA_uc010pvs.2_Missense_Mutation_p.S1631F|CDC42BPA_uc001hqp.3_Missense_Mutation_p.S869F	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1664					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCTGACGGGGAGGGCATGGG	0.587000														50			49		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168102838	168102838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168102838G>A	uc002udx.3	+	8	5025	c.4936G>A	c.(4936-4938)Gaa>Aaa	p.E1646K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1471K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1424K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1471					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGATCAACTGAATTTCATGC	0.323000														21			18		0	0	0.000743	0	0
FOXC2	2303	broad.mit.edu	37	16	86602184	86602184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:86602184G>A	uc002fjq.3	+	0	1328	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	415	Ala/Pro-rich.				Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						gccgcagcccggggccgccgc	0.771000									Late-onset Hereditary Lymphedema					4			4		0	0	0.000602	0	0
ROBO2	6092	broad.mit.edu	37	3	77666791	77666791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:77666791C>T	uc011bgk.2	+	22	4076	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	ROBO2_uc021xat.1_Missense_Mutation_p.P1157S|ROBO2_uc003dpy.4_Missense_Mutation_p.P1141S|ROBO2_uc003dpz.3_Missense_Mutation_p.P1145S|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P268S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1141					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCTTCTTCTCCTGCTATCTC	0.507000														36			20		0	0	0.002299	0	0
DENND2A	27147	broad.mit.edu	37	7	140221881	140221881	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:140221881C>G	uc010lnk.3	-	17	3205	c.2685G>C	c.(2683-2685)ttG>ttC	p.L895F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.L895F|DENND2A_uc003vvw.3_Missense_Mutation_p.L895F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	895	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCACCTCGTTCAAGGGGCTGG	0.577000														23			22		0	0	0.001271	0	0
YIPF3	25844	broad.mit.edu	37	6	43484482	43484482	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43484482A>G	uc003ovl.2	-	0	247	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L	YIPF3_uc011dvk.2_5'UTR|POLR1C_uc003ovn.3_5'Flank|POLR1C_uc003ovo.2_5'Flank	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	22					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTTTCTTCGAACCCTCCCCAT	0.662000														6			5		0	0	0.000602	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623811	21623811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21623811G>A	uc010tlp.2	-	0	374	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S125S(1)|p.Y124F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AACCGTGGAGGAGTAGCAGAA	0.517000														33			19		0	0	0.002299	0	0
OR56A5	390084	broad.mit.edu	37	11	5988988	5988988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5988988G>A	uc010qzu.2	-	0	737	c.737C>T	c.(736-738)tCc>tTc	p.S246F		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	246						integral to membrane|plasma membrane	olfactory receptor activity										GATGAAGTGGGAACCACAAGT	0.473000														4			4		0	0	0.000248	0	0
FAM75A2	642265	broad.mit.edu	37	9	39361104	39361104	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:39361104G>A	uc004abm.3	+	3	3371	c.3342G>A	c.(3340-3342)agG>agA	p.R1114R		NM_001040065	NP_001078921	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	1114						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAAGTCTAGGAAGCCCAACT	0.483000														36			87		0	0	0.003610	0	0
TRIM69	140691	broad.mit.edu	37	15	45052067	45052067	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:45052067C>A	uc001zuf.2	+	6	1853	c.958C>A	c.(958-960)Cca>Aca	p.P320T	TRIM69_uc001zug.1_Missense_Mutation_p.P320T|TRIM69_uc001zuh.1_Missense_Mutation_p.P161T|TRIM69_uc001zui.1_Missense_Mutation_p.P116T|TRIM69_uc010bdy.1_Missense_Mutation_p.P99T	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	320	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CACTCTCTGCCCAGGTATCAG	0.468000														51			32		9.62906e-15	2.02429e-14	0.001287	1	0
GPR155	151556	broad.mit.edu	37	2	175324675	175324675	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:175324675T>C	uc002uit.3	-	10	2093	c.1702A>G	c.(1702-1704)Act>Gct	p.T568A	GPR155_uc002uiu.3_Missense_Mutation_p.T568A|GPR155_uc002uiv.3_Missense_Mutation_p.T568A|GPR155_uc010fqs.3_Missense_Mutation_p.T540A	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	568					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TCAAAAGCAGTATTTCCAGGC	0.408000														51			26		0	0	0.001512	0	0
C10orf96	374355	broad.mit.edu	37	10	118084575	118084575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:118084575G>A	uc001lck.3	+	1	303	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	18								p.A17A(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GCATCAGGCGGAGGAGAGTCG	0.517000														28			18		0	0	0.002299	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552031	27552031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:27552031G>A	uc002rju.1	-	13	2426	c.2029C>T	c.(2029-2031)Ccc>Tcc	p.P677S	GTF3C2_uc010eyy.1_Missense_Mutation_p.P121S|GTF3C2_uc002rjv.1_Missense_Mutation_p.P666S|GTF3C2_uc002rjw.1_Missense_Mutation_p.P666S	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	666						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGTAGGGAAGCAGCCAG	0.517000														103			97		0	0	0.003610	0	0
OR10T2	128360	broad.mit.edu	37	1	158368795	158368795	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158368795G>A	uc010pih.2	-	0	462	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCAATAAAGAAACCTGTGG	0.453000														34			45		0	0	0.003214	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049382	36049382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36049382G>A	uc003jjz.2	-	3	584	c.452C>T	c.(451-453)cCt>cTt	p.P151L	UGT3A2_uc011cos.2_Missense_Mutation_p.P117L|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	151						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCAGGAAAGGACAGTAGTC	0.408000														43			30		0	0	0.001786	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635398	64635398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:64635398G>A	uc003dmg.3	-	9	1552	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P479L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P336L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P507L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	507					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTTGGACAGGCAAAGGGTA	0.473000														248			158		0	0	0.003610	0	0
EGFR	1956	broad.mit.edu	37	7	55259447	55259447	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:55259447C>T	uc003tqk.3	+	20	2751	c.2505C>T	c.(2503-2505)caC>caT	p.H835H	EGFR_uc022adm.1_Silent_p.H835H|EGFR_uc010kzg.2_Silent_p.H790H|EGFR_uc022adn.1_Silent_p.H790H|EGFR_uc011kco.2_Silent_p.H782H|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Silent_p.H70H	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	835	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H835L(6)|p.V834L(5)|p.V834M(3)|p.V834A(3)|p.V834del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTTGGTGCACCGCGACCTGG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				47			14		0	0	0.002450	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108751625C>T	uc003dxl.3	-	15	1594	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_uc011bhn.2_Missense_Mutation_p.E503K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000														45			31		0	0	0.004878	0	0
TIAL1	7073	broad.mit.edu	37	10	121336990	121336990	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:121336990A>C	uc001lei.1	-	8	1274	c.710T>G	c.(709-711)tTc>tGc	p.F237C	TIAL1_uc001leh.1_Missense_Mutation_p.F215C|TIAL1_uc001lej.1_Missense_Mutation_p.F254C|TIAL1_uc001lek.1_Missense_Mutation_p.F114C|TIAL1_uc010qtb.1_Missense_Mutation_p.F114C	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	237	RRM 3.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTTTTCTGGGAAAACTCTTAT	0.323000														39			23		0	0	0.003330	0	0
IQGAP3	128239	broad.mit.edu	37	1	156542304	156542304	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156542304C>A	uc001fpf.3	-	0	93	c.18G>T	c.(16-18)gcG>gcT	p.A6A	IQGAP3_uc009wsb.1_5'UTR	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	6					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCCTGGGCCCGCTGCTCTCC	0.672000														188			6		0.00448238	0.00930402	0.004482	1	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44559889C>T	uc002lcr.1	-	0	2100	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	583	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCGTAATTCGTCTGTCTCT	0.517000														30			19		0	0	0.001216	0	0
RASAL1	8437	broad.mit.edu	37	12	113543543	113543543	+	Silent	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113543543G>T	uc001tun.2	-	16	2110	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	RASAL1_uc010syp.2_Silent_p.S602S|RASAL1_uc001tul.3_Silent_p.S601S|RASAL1_uc001tum.2_Silent_p.S601S|RASAL1_uc010syq.2_Silent_p.S602S|RASAL1_uc001tuo.4_Silent_p.S602S	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	601	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTTGGAGAAGGAGAGGGTCT	0.612000														26			13		0.000151284	0.000315858	0.001855	1	0
ZCWPW1	55063	broad.mit.edu	37	7	100004870	100004870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100004870G>A	uc003uut.3	-	10	1294	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	ZCWPW1_uc011kjq.2_Missense_Mutation_p.S229F|ZCWPW1_uc003uur.3_Missense_Mutation_p.S229F|ZCWPW1_uc003uus.3_Missense_Mutation_p.S229F|ZCWPW1_uc011kjr.2_Missense_Mutation_p.S349F|ZCWPW1_uc003uuu.1_Missense_Mutation_p.S350F|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	349	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAAGATGGGAAGTAAAAAG	0.463000														20			6		0	0	0.001984	0	0
FFAR3	2865	broad.mit.edu	37	19	35850303	35850303	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35850303C>T	uc002nzd.3	+	1	586	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	FFAR3_uc021usm.1_Silent_p.L171L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	171						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GACCTGCTACCTGGAGTTCCG	0.602000														27			22		0	0	0.002780	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865634	6865634	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:6865634C>T	uc003gjr.4	+	6	3988	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	KIAA0232_uc003gjq.4_Silent_p.F1175F	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1175							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTGGAAAATTCCTTCCCAGGT	0.413000														43			28		0	0	0.001786	0	0
TBC1D5	9779	broad.mit.edu	37	3	17333420	17333420	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17333420C>T	uc010hev.3	-	15	1476	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	TBC1D5_uc010heu.3_Intron|TBC1D5_uc003cbf.3_Silent_p.L404L|TBC1D5_uc003cbe.3_Silent_p.L404L|TBC1D5_uc010hew.1_Silent_p.L356L	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	404						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CCTTAAGAATCAGTGAGTGTA	0.403000														30			18		0	0	0.001216	0	0
GABRG3	2567	broad.mit.edu	37	15	27777932	27777932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:27777932G>A	uc001zbg.2	+	9	1563	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	437					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TATTCACATAGACATCTTGGA	0.478000														19			12		0	0	0.001855	0	0
COL7A1	1294	broad.mit.edu	37	3	48610636	48610636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48610636G>A	uc003ctz.2	-	83	6686	c.6685C>T	c.(6685-6687)Cct>Tct	p.P2229S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2229	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGGTCCAGGAAGTCCCACA	0.602000														9			7		0	0	0.001984	0	0
TMEM109	79073	broad.mit.edu	37	11	60689495	60689495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60689495C>T	uc001nqg.3	+	3	968	c.590C>T	c.(589-591)gCc>gTc	p.A197V	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	197						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						ATCCTCTACGCCCTGCTGAGC	0.677000														21			20		0	0	0.002299	0	0
ZNF334	55713	broad.mit.edu	37	20	45130693	45130693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:45130693C>T	uc002xsa.3	-	3	1816	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	ZNF334_uc002xsb.3_Missense_Mutation_p.G391R|ZNF334_uc002xsd.3_Missense_Mutation_p.G391R|ZNF334_uc002xsc.3_Missense_Mutation_p.G429R|ZNF334_uc010ghl.3_Missense_Mutation_p.G428R			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGCTTCTCTCCTGTATGACTT	0.393000														51			82		0	0	0.003610	0	0
OR2F1	26211	broad.mit.edu	37	7	143657094	143657094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143657094G>A	uc003wds.1	+	0	75	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGGGTGAGTGAATTTATTCT	0.438000														120			42		0	0	0.003610	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439359	169439359	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169439359G>A	uc001gge.4	-	2	1077	c.873C>T	c.(871-873)tcC>tcT	p.S291S	SLC19A2_uc001ggf.4_Silent_p.S90S	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	291					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)					GAGGGCGAGAGGAGTAGCACA	0.488000														87			29		0	0	0.002096	0	0
SLIT1	6585	broad.mit.edu	37	10	98764506	98764506	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98764506C>T	uc001kmw.2	-	32	3906	c.3654G>A	c.(3652-3654)caG>caA	p.Q1218Q		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1218	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACATGGCCCTGGTACAGCT	0.597000														17			13		0	0	0.001855	0	0
PADI2	11240	broad.mit.edu	37	1	17422436	17422436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:17422436C>T	uc001baf.3	-	3	461	c.379G>A	c.(379-381)Gat>Aat	p.D127N	PADI2_uc010ocm.2_Missense_Mutation_p.D127N|PADI2_uc001bag.1_Missense_Mutation_p.D127N	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCACACCATCCCGGTCTGCG	0.617000														53			49		0	0	0.003610	0	0
LY96	23643	broad.mit.edu	37	8	74903690	74903690	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:74903690C>T	uc003yad.3	+	0	127	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	LY96_uc022awb.1_Silent_p.L5L	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	5					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GTTACCATTTCTGTTTTTTTC	0.368000														55			49		0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36486905	36486905	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36486905C>T	uc002hpz.3	-	10	2568	c.2547G>A	c.(2545-2547)aaG>aaA	p.K849K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	849						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAGCAAGGCCTTTTCCCTGG	0.662000														3			22		0	0	0.003954	0	0
ALG9	79796	broad.mit.edu	37	11	111739396	111739396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111739396G>A	uc010rwn.2	-	1	295	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ALG9_uc001ply.3_5'UTR|ALG9_uc001plz.3_5'UTR|ALG9_uc021qql.1_5'UTR|ALG9_uc021qqm.1_5'UTR|ALG9_uc010rwo.2_5'UTR|ALG9_uc009yyh.1_Silent_p.F30F	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	112					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCATAGGAGCGAATGGCATAT	0.433000														33			20		0	0	0.000958	0	0
CYBRD1	79901	broad.mit.edu	37	2	172379235	172379235	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:172379235C>T	uc002ugy.4	+	0	370	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CYBRD1_uc002ugz.4_Silent_p.F60F	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	60	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						GCTTCGTCTTCATCCAGGGCA	0.652000														40			21		0	0	0.003330	0	0
POPDC3	64208	broad.mit.edu	37	6	105609341	105609341	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:105609341C>T	uc003prb.3	-	1	846	c.444G>A	c.(442-444)ggG>ggA	p.G148G	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	148						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGGAAGTTTTCCCCTGCATGG	0.428000														52			30		0	0	0.001512	0	0
CADM2	253559	broad.mit.edu	37	3	86115863	86115863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:86115863C>T	uc003dql.3	+	9	1244	c.1244C>T	c.(1243-1245)gCt>gTt	p.A415V	CADM2_uc003dqj.3_Missense_Mutation_p.A413V|CADM2_uc003dqk.3_Missense_Mutation_p.A382V|CADM2_uc003dqm.2_Missense_Mutation_p.A305V|CADM2_uc021xay.1_Missense_Mutation_p.A265V|CADM2_uc021xaz.1_Missense_Mutation_p.A265V|CADM2_uc021xba.1_Missense_Mutation_p.A305V	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	413					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCACCAGATGCTGATACAGCC	0.378000														40			28		0	0	0.005443	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710775	77710775	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77710775C>T	uc001xtf.2	+	15	1637	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	TMEM63C_uc010asq.1_Silent_p.A475A	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	475						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACTTCTCCGCCTTCCTCGAGG	0.622000														17			57		0	0	0.003610	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94918017	94918017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94918017G>A	uc003unp.3	+	14	3353	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E	PPP1R9A_uc010lfj.3_Missense_Mutation_p.G1300E|PPP1R9A_uc011kif.2_Missense_Mutation_p.G1222E|PPP1R9A_uc003unq.3_Intron|PPP1R9A_uc011kig.2_Missense_Mutation_p.G1016E|PPP1R9A_uc003unr.3_Missense_Mutation_p.G313E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	1024	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGTTGGATGGAAATAAACTT	0.368000										HNSCC(28;0.073)				23			25		0	0	0.001061	0	0
C7orf63	79846	broad.mit.edu	37	7	89891307	89891307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:89891307C>T	uc010lep.3	+	3	544	c.293C>T	c.(292-294)tCa>tTa	p.S98L	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Missense_Mutation_p.S98L|C7orf63_uc010leo.2_Missense_Mutation_p.S98L	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	98							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATCTGTGTTCAGGAAAAATA	0.249000														57			55		0	0	0.003610	0	0
CSRNP2	81566	broad.mit.edu	37	12	51457690	51457691	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51457690_51457691GG>AA	uc021qxx.1	-	4	1982_1983	c.1470_1471CC>TT	c.(1468-1473)aaccct>aaTTct	p.P491S	CSRNP2_uc001rxu.2_Missense_Mutation_p.P491S	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	491					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCTCCTCAGGGTTACAATCTT	0.559000														66			31		0	0	0.004672	0	0
SPEG	10290	broad.mit.edu	37	2	220338338	220338338	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220338338C>T	uc010fwg.3	+	16	4260	c.4260C>T	c.(4258-4260)gtC>gtT	p.V1420V		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1420	Ig-like 7.				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)		AGGCCCAGGTCGTCTGGAGGA	0.632000														92			42		0	0	0.003610	0	0
DNMT1	1786	broad.mit.edu	37	19	10247957	10247957	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10247957C>T	uc002mng.3	-	36	4426	c.4246_splice	c.e36-1	p.D1416_splice	DNMT1_uc002mnf.3_Splice_Site_p.D340_splice|DNMT1_uc010xlc.2_Splice_Site_p.D1432_splice|DNMT1_uc002mnh.3_Splice_Site_p.D1311_splice|DNMT1_uc010xld.2_Splice_Site_p.D1416_splice	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1416	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CACTCATGTCCTGAAAGAGTG	0.637000														10			3		0	0	0.000248	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644459	18644459	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:18644459C>T	uc001rdt.3	+	18	2753	c.2637C>T	c.(2635-2637)aaC>aaT	p.N879N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.N920N|PIK3C2G_uc010sic.2_Silent_p.N698N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	879					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)				TTCCTCTGAACCCTGCCCTAT	0.333000														71			42		0	0	0.002852	0	0
MKX	283078	broad.mit.edu	37	10	28024257	28024257	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:28024257A>G	uc001ity.4	-	3	620	c.395T>C	c.(394-396)gTt>gCt	p.V132A	MKX_uc001itx.4_Missense_Mutation_p.V132A	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	132					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGGCTGTCGAACGGTATTCTT	0.373000														61			35		0	0	0.003755	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449912	85449912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85449912G>A	uc001tac.3	+	7	1452	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	LRRIQ1_uc021rbo.1_Missense_Mutation_p.M325I|LRRIQ1_uc001taa.1_Missense_Mutation_p.M422I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	447										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)		AATCAAATATGAAAGAAAATG	0.299000														72			45		0	0	0.002222	0	0
LAMC3	10319	broad.mit.edu	37	9	133901756	133901757	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:133901756_133901757CC>TT	uc004caa.1	+	1	556_557	c.458_459CC>TT	c.(457-459)gcc>gTT	p.A153V		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	153	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCAGCCGCGCCGACGGCCCAT	0.644000														3			35		0	0	0.004672	0	0
RP1	6101	broad.mit.edu	37	8	55542638	55542638	+	Missense_Mutation	SNP	G	A	A	rs149282954	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:55542638G>A	uc003xsd.1	+	3	6344	c.6196G>A	c.(6196-6198)Gat>Aat	p.D2066N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2066					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.D2066N(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)			TAAAGCAGTCGATGAGAATAA	0.338000														20			28		0	0	0.005443	0	0
EMR1	2015	broad.mit.edu	37	19	6926380	6926380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6926380G>A	uc002mfw.3	+	15	2028	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	EMR1_uc010dvc.3_Missense_Mutation_p.G599S|EMR1_uc010dvb.3_Missense_Mutation_p.G612S|EMR1_uc010xji.2_Missense_Mutation_p.G523S|EMR1_uc010xjj.2_Missense_Mutation_p.G487S	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	664					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTCCAGATGGGCTGCGCCAT	0.532000														25			21		0	0	0.003954	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316844	78316844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:78316844G>A	uc002bcy.4	-	5	1124	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	TBC1D2B_uc010bla.3_Missense_Mutation_p.S375F	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	375						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						GTCATACTGGGATGACCGGAC	0.527000														27			11		0	0	0.000978	0	0
RNF20	56254	broad.mit.edu	37	9	104324684	104324684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:104324684C>T	uc004bbn.3	+	19	2998	c.2908C>T	c.(2908-2910)Cat>Tat	p.H970Y		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	970					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAATGATTTTCATCGCATCTA	0.448000														6			27		0	0	0.005443	0	0
NFATC1	4772	broad.mit.edu	37	18	77208917	77208917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77208917G>A	uc010xfg.2	+	3	1975	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	NFATC1_uc002lnc.1_Missense_Mutation_p.E508K|NFATC1_uc010xff.1_Missense_Mutation_p.E508K|NFATC1_uc002lnd.3_Missense_Mutation_p.E508K|NFATC1_uc002lne.3_Missense_Mutation_p.E36K|NFATC1_uc010xfh.2_Missense_Mutation_p.E508K|NFATC1_uc010xfi.1_Missense_Mutation_p.E495K|NFATC1_uc010xfj.2_Missense_Mutation_p.E36K|NFATC1_uc002lnf.3_Missense_Mutation_p.E495K|NFATC1_uc002lng.3_Missense_Mutation_p.E495K|NFATC1_uc010xfk.2_Missense_Mutation_p.E495K	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	508	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CACCAGCCACGAGGCCATCCT	0.657000														17			14		0	0	0.003163	0	0
CNTN1	1272	broad.mit.edu	37	12	41333159	41333159	+	Missense_Mutation	SNP	G	A	A	rs145510600	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41333159G>A	uc001rmm.1	+	11	1364	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	CNTN1_uc009zjy.2_Missense_Mutation_p.M417I|CNTN1_uc001rmn.1_Missense_Mutation_p.M406I|CNTN1_uc001rmo.3_Missense_Mutation_p.M417I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	417	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTTGAAATGAATCCTATGA	0.358000														26			12		0	0	0.003163	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887524	9887524	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:9887524G>T	uc002koi.4	+	1	1497	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	TXNDC2_uc002koh.4_Nonsense_Mutation_p.E283*|TXNDC2_uc021ugx.1_Nonsense_Mutation_p.E283*	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	350	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAACCATCCA	0.567000														13			32		2.80507e-11	5.88866e-11	0.002445	1	0
TPO	7173	broad.mit.edu	37	2	1418234	1418234	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1418234C>T	uc002qwr.3	+	1	140	c.54C>T	c.(52-54)gcC>gcT	p.A18A	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.A18A|TPO_uc002qww.3_Silent_p.A18A|TPO_uc002qwx.3_Silent_p.A18A|TPO_uc002qwu.3_Silent_p.A18A|TPO_uc010yio.2_Silent_p.A18A|TPO_uc010yip.2_Silent_p.A18A	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	18					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACAGAAGCCTTCTTCCCCT	0.448000														11			15		0	0	0.004990	0	0
SYT1	6857	broad.mit.edu	37	12	79693272	79693272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:79693272G>A	uc001sys.3	+	8	1422	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	SYT1_uc001syt.3_Missense_Mutation_p.V251M|SYT1_uc001syu.3_Missense_Mutation_p.V248M|SYT1_uc001syv.3_Missense_Mutation_p.V251M	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	251	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TATGAACACAGTGGATTTTGG	0.423000														31			25		0	0	0.003330	0	0
RWDD3	25950	broad.mit.edu	37	1	95712207	95712208	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:95712207_95712208AC>TT	uc009wdu.3	+	2	759_760	c.683_684AC>TT	c.(682-684)cac>cTT	p.H228L	RWDD3_uc001drh.4_3'UTR|RWDD3_uc001dri.4_3'UTR|RWDD3_uc001drf.4_Intron|RWDD3_uc009wdv.3_Non-coding_Transcript|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	228						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAGACAGAACACAAAAGGTATA	0.322000														46			28		0	0	0.004672	0	0
CXCR7	57007	broad.mit.edu	37	2	237489273	237489273	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237489273C>T	uc021vys.1	+	0	165	c.165C>T	c.(163-165)ttC>ttT	p.F55F	CXCR7_uc010fyq.3_Silent_p.F55F|CXCR7_uc002vwd.3_Silent_p.F55F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	55					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TTTTCATCTTCGTCATCGGCA	0.522000														7			4		0	0	0.000248	0	0
MAEA	10296	broad.mit.edu	37	4	1309274	1309274	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:1309274C>T	uc003gda.3	+	2	372	c.342C>T	c.(340-342)ccC>ccT	p.P114P	MAEA_uc010ibs.1_Silent_p.P114P|MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.P114P|MAEA_uc011bvb.2_Intron|MAEA_uc003gdc.3_Silent_p.P114P|MAEA_uc011bvc.2_Silent_p.P113P|MAEA_uc011bvd.2_Silent_p.P66P|MAEA_uc010ibt.3_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	114	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GCGACCAGCCCGCGGCGGCCA	0.647000														32			21		0	0	0.002780	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170199	207170199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:207170199C>T	uc002vbp.2	+	4	1197	c.947C>T	c.(946-948)cCt>cTt	p.P316L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	316							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTGACATGCCTTCTAATAAA	0.368000														39			21		0	0	0.001216	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614848	175614848	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:175614848G>A	uc002ujd.2	-	7	981	c.903C>T	c.(901-903)ttC>ttT	p.F301F	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Silent_p.F276F	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	301			F -> L (in FCCMS; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate).		muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGACCAGAAGGAACACAGTCA	0.458000														23			13		0	0	0.001368	0	0
GRIA1	2890	broad.mit.edu	37	5	153181972	153181972	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153181972C>T	uc011dcy.2	+	14	2499	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	GRIA1_uc003lva.4_Silent_p.I814I|GRIA1_uc003luy.4_Silent_p.I814I|GRIA1_uc003luz.4_Silent_p.I719I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.I734I|GRIA1_uc011dcx.2_Silent_p.I745I|GRIA1_uc011dcz.2_Silent_p.I824I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	814					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)	ACATCCTGATCGGAGGACTTG	0.532000														26			38		0	0	0.001287	0	0
OR2C3	81472	broad.mit.edu	37	1	247695727	247695727	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247695727G>A	uc021pmb.1	-	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.F29F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGACAACTATGAAGAGGACAG	0.463000														32			38		0	0	0.001287	0	0
TNNT2	7139	broad.mit.edu	37	1	201335988	201335988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201335988C>T	uc001gwf.3	-	7	280	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TNNT2_uc021phc.1_Missense_Mutation_p.E61K|TNNT2_uc001gwg.3_Missense_Mutation_p.E61K|TNNT2_uc001gwh.3_Missense_Mutation_p.E52K|TNNT2_uc001gwi.3_Missense_Mutation_p.E70K|TNNT2_uc009wzr.3_Missense_Mutation_p.E2K|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.E36K|TNNT2_uc001gwk.1_Missense_Mutation_p.E2K|TNNT2_uc009wzt.1_Missense_Mutation_p.E61K|TNNT2_uc001gwl.1_Non-coding_Transcript	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	71					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			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TTGGACTCCTCCATTGGGCCA	0.597000														33			41		0	0	0.003610	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182904	6182904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6182904G>A	uc002mef.1	+	8	1276	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	ACSBG2_uc002mee.1_Missense_Mutation_p.R163K|ACSBG2_uc002meg.1_Missense_Mutation_p.R350K|ACSBG2_uc002meh.1_Missense_Mutation_p.R350K|ACSBG2_uc002mei.1_Missense_Mutation_p.R300K|ACSBG2_uc010xiz.1_Missense_Mutation_p.R350K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	350					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTGGGCAAGAAACATTGGC	0.483000														41			33		0	0	0.003755	0	0
NFX1	4799	broad.mit.edu	37	9	33366686	33366686	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:33366686C>T	uc003zsr.3	+	21	3255	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I	NFX1_uc003zsq.3_Silent_p.I1033I	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	1033	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACCGCCGGATCATCCATGACT	0.493000														4			10		0	0	0.000673	0	0
PTPN3	5774	broad.mit.edu	37	9	112225638	112225638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:112225638C>T	uc004bed.2	-	1	189	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R26Q|PTPN3_uc011lwh.1_5'UTR|PTPN3_uc004bee.4_Missense_Mutation_p.R26Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	26					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACTTCTGATCGAGTTTTCTC	0.388000														21			89		0	0	0.003610	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711892	169711892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:169711892G>A	uc002ueg.3	+	10	1152	c.886G>A	c.(886-888)Gag>Aag	p.E296K	NOSTRIN_uc002uef.3_Missense_Mutation_p.E353K|NOSTRIN_uc002ueh.3_Missense_Mutation_p.E218K|NOSTRIN_uc010fpu.3_Missense_Mutation_p.E268K|NOSTRIN_uc002uek.3_5'Flank	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	296					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATGGATAAAGAGAGACGAAA	0.378000														39			20		0	0	0.001216	0	0
ZNF643	65243	broad.mit.edu	37	1	40928601	40928601	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40928601C>T	uc001cfn.2	+	4	1242	c.945C>T	c.(943-945)gcC>gcT	p.A315A	ZNF643_uc001cfl.2_Silent_p.A213A|ZNF643_uc001cfm.2_Silent_p.A181A	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			GTGGAAAAGCCTTTAGCCAAA	0.383000														35			29		0	0	0.001786	0	0
OTOP3	347741	broad.mit.edu	37	17	72945453	72945453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72945453G>A	uc010wrr.2	+	6	1733	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E	OTOP3_uc010wrq.2_Missense_Mutation_p.G560E	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	578						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGCCTCTGGGGGTCTTCTAC	0.602000														5			26		0	0	0.001061	0	0
PCDH15	65217	broad.mit.edu	37	10	56089365	56089365	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:56089365G>A	uc010qhy.1	-	7	1106	c.711C>T	c.(709-711)atC>atT	p.I237I	PCDH15_uc010qhq.2_Silent_p.I237I|PCDH15_uc010qhr.2_Silent_p.I232I|PCDH15_uc021pqv.1_Silent_p.I232I|PCDH15_uc021pqw.1_Silent_p.I237I|PCDH15_uc010qht.2_Silent_p.I232I|PCDH15_uc021pqx.1_Silent_p.I232I|PCDH15_uc001jjv.1_Silent_p.I210I|PCDH15_uc021pqy.1_Silent_p.I232I|PCDH15_uc021pqz.1_Silent_p.I210I|PCDH15_uc010qhv.1_Silent_p.I232I|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Silent_p.I232I|PCDH15_uc010qhz.1_Silent_p.I232I|PCDH15_uc010qia.1_Silent_p.I210I|PCDH15_uc001jju.1_Silent_p.I232I|PCDH15_uc010qib.1_Silent_p.I210I|PCDH15_uc001jjw.3_Silent_p.I232I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	232	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)				CATTAGCTTGGATTATGACAA	0.338000										HNSCC(58;0.16)				67			55		0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21712032	21712032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21712032G>A	uc001rfb.3	-	9	1556	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	434					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTGAGTTGAAAAGATGGC	0.308000														29			15		0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26906079C>T	uc003jgs.1	-	4	969	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CDH9_uc010iug.3_Missense_Mutation_p.R267Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(2)|p.R267*(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428000														109			72		0	0	0.003610	0	0
TGFA	7039	broad.mit.edu	37	2	70692814	70692814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:70692814G>A	uc002sgs.4	-	2	397	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TGFA_uc010fdq.3_Missense_Mutation_p.S56F|TGFA_uc010fdr.3_Missense_Mutation_p.S55F|TGFA_uc002sgt.4_Missense_Mutation_p.S49F|TGFA_uc002sgu.3_Missense_Mutation_p.S49F|TGFA_uc002sgv.3_Missense_Mutation_p.S50F|TGFA_uc002sgw.3_Missense_Mutation_p.S49F	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	50	EGF-like.				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTGAGTGTGGGAATCTGGGCA	0.557000														18			18		0	0	0.001523	0	0
RASSF7	8045	broad.mit.edu	37	11	563473	563473	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:563473C>T	uc001lqc.3	+	4	1064	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_3'UTR|RASSF7_uc001lqd.3_Intron	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA.	343					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTAGGCCCCGAGGGTATG	0.692000														8			4		0	0	0.000248	0	0
CDH20	28316	broad.mit.edu	37	18	59221488	59221488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:59221488G>A	uc010dps.1	+	10	2118	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CDH20_uc002lif.2_Missense_Mutation_p.E650K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	656					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E656Q(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGACGACGAGGAAAACATCCA	0.587000														46			29		0	0	0.002445	0	0
DGKB	1607	broad.mit.edu	37	7	14613861	14613861	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:14613861G>A	uc003ssz.3	-	18	1936	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	DGKB_uc011jxt.2_Silent_p.I564I|DGKB_uc003sta.3_Silent_p.I583I|DGKB_uc011jxu.2_Silent_p.I582I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	583					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)	AGTAATTATTGATGATACTGT	0.353000														147			82		0	0	0.003610	0	0
KLK12	43849	broad.mit.edu	37	19	51535133	51535133	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51535133C>T	uc002pvh.1	-	4	574	c.457_splice	c.e4+1	p.N153_splice	KLK12_uc002pvg.1_Splice_Site_p.N153_splice|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Splice_Site_p.N153_splice|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	153	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCCCTTACTCCGTGGGTGGT	0.627000														55			32		0	0	0.001287	0	0
AP1B1	162	broad.mit.edu	37	22	29734987	29734987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:29734987G>A	uc003afj.3	-	15	2342	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S	AP1B1_uc003afl.3_Missense_Mutation_p.P712S|AP1B1_uc003afi.3_Missense_Mutation_p.P712S|AP1B1_uc011ako.2_Missense_Mutation_p.P272S	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	719	Pro-rich (stalk region).				endocytosis|intracellular protein transport|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|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGCTTTGGGGGCCACATAT	0.552000														81			65		0	0	0.003610	0	0
PALM	5064	broad.mit.edu	37	19	746432	746432	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:746432A>C	uc002lpm.1	+	8	976	c.782A>C	c.(781-783)gAg>gCg	p.E261A	PALM_uc002lpn.1_Missense_Mutation_p.E217A|PALM_uc010xfu.1_Missense_Mutation_p.E126A	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	261					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GGGGCTGTGGAGGGGGCAGCC	0.741000														15			8		0	0	0.004482	0	0
MARK2	2011	broad.mit.edu	37	11	63672372	63672372	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63672372C>T	uc001nxw.3	+	15	2370	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	MARK2_uc001nxv.4_Silent_p.F542F|MARK2_uc001nxx.3_Silent_p.F543F|MARK2_uc001nxy.3_Silent_p.F542F|MARK2_uc001nxz.4_Silent_p.F563F|MARK2_uc009yoy.3_Silent_p.F517F	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	597					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						GAAGCACCTTCCATGCTGGGC	0.667000														27			17		0	0	0.004990	0	0
TJP3	27134	broad.mit.edu	37	19	3735567	3735567	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3735567G>A	uc010xhv.2	+	7	1089	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	TJP3_uc010xhs.2_Silent_p.E330E|TJP3_uc010xht.2_Silent_p.E294E|TJP3_uc010xhu.2_Silent_p.E339E|TJP3_uc010xhw.2_Silent_p.E349E	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	344						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCAGGGAGAGTCCCCGGC	0.552000														65			47		0	0	0.003610	0	0
MAP3K5	4217	broad.mit.edu	37	6	136882775	136882775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136882775C>T	uc003qhc.3	-	27	4244	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MAP3K5_uc011edj.2_Missense_Mutation_p.E542K	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1295					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)		ACAGGCAATTCAGGAATTTCT	0.363000														24			10		0	0	0.000673	0	0
OR56A5	390084	broad.mit.edu	37	11	5989503	5989503	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5989503G>A	uc010qzu.2	-	0	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	74						integral to membrane|plasma membrane	olfactory receptor activity										GGCAGAGTACGATGTCCAGCA	0.562000														23			15		0	0	0.003163	0	0
MYT1	4661	broad.mit.edu	37	20	62839344	62839344	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62839344G>A	uc002yii.3	+	6	1159	c.795G>A	c.(793-795)gaG>gaA	p.E265E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	265	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaggaggaag	0.587000														9			15		0	0	0.003163	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718198	142718198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:142718198C>T	uc022cfm.1	-	0	727	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E243K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E243K|SLITRK4_uc004fby.3_Missense_Mutation_p.E243K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	243	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGAGTTTCACAGATAGCT	0.438000														9			23		0	0	0.002299	0	0
FBN3	84467	broad.mit.edu	37	19	8146339	8146339	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8146339G>A	uc002mjf.3	-	56	7256	c.7239C>T	c.(7237-7239)ccC>ccT	p.P2413P	FBN3_uc002mje.3_Silent_p.P252P	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2413	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TACATGGCTTGGGGACCTGGC	0.592000														25			28		0	0	0.002836	0	0
PCLO	27445	broad.mit.edu	37	7	82785168	82785168	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82785168C>T	uc003uhx.2	-	1	1078	c.789G>A	c.(787-789)caG>caA	p.Q263Q	PCLO_uc003uhv.2_Silent_p.Q263Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	263	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						TCTGAGGAGTCTGGGTAGGAC	0.453000														39			10		0	0	0.001368	0	0
OR7A17	26333	broad.mit.edu	37	19	14991497	14991497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14991497G>A	uc010xob.2	-	0	671	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGCACGTATGGAGGAAACTAT	0.483000														48			49		0	0	0.003610	0	0
SERBP1	26135	broad.mit.edu	37	1	67878897	67878897	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:67878897A>G	uc001ddv.3	-	7	1360	c.1220T>C	c.(1219-1221)cTg>cCg	p.L407P	SERBP1_uc001ddy.3_Missense_Mutation_p.L386P|SERBP1_uc001ddw.3_Missense_Mutation_p.L392P|SERBP1_uc001ddx.3_Missense_Mutation_p.L401P	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript variant 1, mRNA.	407					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAGTTAAGCCAGAGCTGGGAA	0.408000														12			15		0	0	0.004990	0	0
MOB3C	148932	broad.mit.edu	37	1	47078949	47078949	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47078949G>A	uc001cqe.4	-	1	258	c.201C>T	c.(199-201)ttC>ttT	p.F67F	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Silent_p.F15F	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	15							metal ion binding										TCCGCGGCCGGAACGTCTTGT	0.647000														61			34		0	0	0.003755	0	0
CYB5RL	606495	broad.mit.edu	37	1	54640385	54640385	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:54640385G>A	uc009vzo.3	-	7	1175	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CYB5RL_uc001cww.3_Silent_p.F175F|CYB5RL_uc001cwy.4_Silent_p.F137F|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	285							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						AGACCAGTGCGAATGGCTTTC	0.552000														19			14		0	0	0.004007	0	0
CSMD2	114784	broad.mit.edu	37	1	34238206	34238206	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34238206T>A	uc001bxm.1	-	12	1987	c.1810A>T	c.(1810-1812)Aat>Tat	p.N604Y	CSMD2_uc001bxn.1_Missense_Mutation_p.N564Y	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	564	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATTGGTTATTCTTTTGGCAT	0.587000														67			44		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179632639	179632639	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179632639C>T	uc021vsy.1	-	39	9543	c.9318G>A	c.(9316-9318)caG>caA	p.Q3106Q	TTN_uc021vsz.1_Silent_p.Q3060Q|TTN_uc021vta.1_Silent_p.Q3060Q|TTN_uc021vtb.1_Silent_p.Q3060Q|TTN_uc002unb.2_Silent_p.Q3106Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3106	Ig-like 18.						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)			ATTTCTCCTTCTGAATCTTTA	0.448000														19			14		0	0	0.002450	0	0
FSHB	2488	broad.mit.edu	37	11	30255338	30255338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30255338G>A	uc001msl.3	+	2	450	c.381G>A	c.(379-381)atG>atA	p.M127I	FSHB_uc001msm.3_Missense_Mutation_p.M127I|FSHB_uc001msn.3_Missense_Mutation_p.M127I	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	127					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TTGGTGAAATGAAAGAATAAA	0.512000														23			14		0	0	0.004007	0	0
INHBC	3626	broad.mit.edu	37	12	57843565	57843565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57843565G>A	uc001snv.1	+	1	946	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	273					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.A272T(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCTACGCCATGAACTTCTGCA	0.542000														20			21		0	0	0.001523	0	0
ITGB3	3690	broad.mit.edu	37	17	45367595	45367595	+	Silent	SNP	C	T	T	rs139342659		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45367595C>T	uc002ilj.3	+	7	1100	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	ITGB3_uc002ili.1_Silent_p.S360S|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	360	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGGTTCTGTCCATGGATTCCA	0.493000														27			85		0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72955960	72955960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:72955960C>T	uc001sxa.3	+	7	1699	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	557					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTAACCATTCATAAGTATGG	0.264000														18			11		0	0	0.001368	0	0
RSAD2	91543	broad.mit.edu	37	2	7023635	7023635	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:7023635G>A	uc002qyp.1	+	1	616	c.480G>A	c.(478-480)ctG>ctA	p.L160L		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	160					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ATGGAAGCCTGATCCGGGAGA	0.478000														23			18		0	0	0.001216	0	0
ADAM30	11085	broad.mit.edu	37	1	120437545	120437545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120437545C>T	uc001eij.3	-	0	1603	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	472	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACTTGAATTCCCGTCGCAGTA	0.473000														238			177		0	0	0.003610	0	0
PTER	9317	broad.mit.edu	37	10	16528519	16528519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:16528519C>T	uc001iog.1	+	3	808	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	PTER_uc001ioh.1_Missense_Mutation_p.H201Y|PTER_uc001ioi.1_Missense_Mutation_p.H201Y|PTER_uc009xjp.1_Missense_Mutation_p.H201Y	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	201					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TGTTATTATCCATCCTGGACG	0.498000														43			30		0	0	0.001786	0	0
CEP57L1	285753	broad.mit.edu	37	6	109468002	109468002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109468002C>T	uc010kdk.3	+	4	779	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	CEP57L1_uc003psw.4_Missense_Mutation_p.R68C|CEP57L1_uc003psx.4_Missense_Mutation_p.R68C|CEP57L1_uc010kdl.3_Missense_Mutation_p.R68C|CEP57L1_uc003psy.4_Missense_Mutation_p.R68C	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	68						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAAAATTCATCGTTTAGAGCT	0.333000														14			14		0	0	0.003163	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113925	117113925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117113925G>A	uc003pxj.1	-	5	2183	c.2161C>T	c.(2161-2163)Ctc>Ttc	p.L721F	GPRC6A_uc003pxk.1_Missense_Mutation_p.L546F|GPRC6A_uc003pxl.1_Missense_Mutation_p.L650F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	721					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)		ATTAGCCAGAGTGTGCAAATG	0.463000														25			22		0	0	0.003330	0	0
RPL23AP82	284942	broad.mit.edu	37	22	51237319	51237319	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:51237319C>T	uc003bni.3	+	3		c.774C>T			RPL23AP82_uc003bns.3_Non-coding_Transcript|RPL23AP82_uc010hbj.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 82 (RPL23AP82), transcript variant 1, non-coding RNA.											lung(1)	1						CATCAAGTTTCCGCTGGCCAC	0.537000														24			19		0	0	0.005443	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508499	64508499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64508499C>T	uc009ypu.3	-	4	519	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RASGRP2_uc001oat.3_5'Flank|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Missense_Mutation_p.E98K|RASGRP2_uc009ypw.3_Missense_Mutation_p.E98K	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	98	N-terminal 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						TTGATCTGCTCAGCCAACTCC	0.597000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		7			7		0	0	0.001984	0	0
HHIP	64399	broad.mit.edu	37	4	145573889	145573889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145573889C>T	uc003ijs.2	+	1	1092	c.412C>T	c.(412-414)Cct>Tct	p.P138S	HHIP_uc003ijr.2_Missense_Mutation_p.P138S	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	138						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)		CCTAGTACTTCCTCTGCTCTG	0.408000														72			50		0	0	0.003610	0	0
ATP1A3	478	broad.mit.edu	37	19	42479820	42479820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42479820C>T	uc002osh.3	-	15	2378	c.2224G>A	c.(2224-2226)Gac>Aac	p.D742N	ATP1A3_uc010xwf.2_Missense_Mutation_p.D753N|ATP1A3_uc010xwg.2_Missense_Mutation_p.D712N|ATP1A3_uc002osg.3_Missense_Mutation_p.D742N|ATP1A3_uc010xwh.2_Missense_Mutation_p.D755N			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	742					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AAGTTGTCGTCCAGCAGGATC	0.622000														32			21		0	0	0.002299	0	0
ACSM4	341392	broad.mit.edu	37	12	7473360	7473360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7473360C>T	uc001qsx.1	+	5	961	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	321					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTGCAGTCCTCCCACTGTGTA	0.468000														28			11		0	0	0.000978	0	0
TNS4	84951	broad.mit.edu	37	17	38641186	38641186	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38641186G>A	uc010cxb.3	-	4	1526	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	454	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCTCGGGTGATGTTTGGCT	0.537000														9			33		0	0	0.001287	0	0
OR2T11	127077	broad.mit.edu	37	1	248790028	248790028	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248790028G>A	uc001ier.1	-	0	402	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACTTCTTGCGGTTCATCAGGA	0.542000														31			30		0	0	0.001512	0	0
KIF5C	3800	broad.mit.edu	37	2	149866805	149866805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:149866805C>T	uc010zbu.2	+	23	3102	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.R185C	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	903	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGTGGATCGTATCAAGGA	0.647000														2			4		0	0	0.001984	0	0
SYT15	83849	broad.mit.edu	37	10	46967484	46967484	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:46967484T>C	uc001jea.3	-	3	746	c.593A>G	c.(592-594)cAa>cGa	p.Q198R	SYT15_uc001jdz.2_Missense_Mutation_p.Q198R|SYT15_uc001jeb.3_Missense_Mutation_p.Q76R|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	198	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTCTTGGATTGGAGGAAGCG	0.607000														86			16		0	0	0.004990	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546326	112546326	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:112546326C>T	uc003dzi.1	-	2	544	c.318G>A	c.(316-318)caG>caA	p.Q106Q	CD200R1L_uc010hqf.1_Silent_p.Q85Q|CD200R1L_uc011bhw.1_Silent_p.Q85Q	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	106	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGTCCGAATTCTGATCAGGTC	0.473000														36			30		0	0	0.001271	0	0
OR2A5	393046	broad.mit.edu	37	7	143748032	143748032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143748032G>A	uc011ktw.2	+	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTTCTTCTGTGAAATCCTGTC	0.557000														114			46		0	0	0.003610	0	0
ESYT1	23344	broad.mit.edu	37	12	56527378	56527378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56527378C>T	uc001sjr.3	+	11	1418	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	ESYT1_uc001sjq.3_Missense_Mutation_p.P434S	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	434						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTAGTGGTTCCCTCTACAAGG	0.458000														30			22		0	0	0.002299	0	0
LRRC33	375387	broad.mit.edu	37	3	196387622	196387622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:196387622C>T	uc003fwv.3	+	2	1212	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	370						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCTTCACATTCGGGAGCACGA	0.637000														50			22		0	0	0.001882	0	0
CPNE1	8904	broad.mit.edu	37	20	34218677	34218677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:34218677G>A	uc010zvj.2	-	11	1418	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	CPNE1_uc002xde.3_Missense_Mutation_p.P322S|CPNE1_uc002xdf.3_Missense_Mutation_p.P346S|CPNE1_uc002xdi.3_Missense_Mutation_p.P346S|CPNE1_uc002xdj.3_Missense_Mutation_p.P346S|CPNE1_uc002xdl.3_Missense_Mutation_p.P346S|CPNE1_uc002xdm.3_Missense_Mutation_p.P346S|CPNE1_uc010gfk.2_3'UTR	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	346	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGTCAGGGGGAACCTGGGCC	0.527000														96			31		0	0	0.002836	0	0
SCN3A	6328	broad.mit.edu	37	2	165950958	165950958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165950958C>T	uc002ucx.3	-	25	4954	c.4462G>A	c.(4462-4464)Gaa>Aaa	p.E1488K	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.E1439K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1439K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1488						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)	TTTTTCTGTTCCTCTGTCATA	0.343000														133			82		0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54624244	54624244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:54624244G>A	uc021smr.1	+	12	4423	c.4423G>A	c.(4423-4425)Gaa>Aaa	p.E1475K	UNC13C_uc021sms.1_Missense_Mutation_p.E1477K|UNC13C_uc002acl.3_Missense_Mutation_p.E307K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1477					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)		TGTACAGAGGGAAAAATTCAT	0.318000														5			7		0	0	0.003080	0	0
CPXM2	119587	broad.mit.edu	37	10	125528156	125528156	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125528156G>A	uc001lhk.1	-	8	1510	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	395					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTGACACACGAACTGCACCA	0.627000														34			30		0	0	0.002096	0	0
CAMK2B	816	broad.mit.edu	37	7	44286760	44286760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44286760G>A	uc003tkq.2	-	5	583	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	CAMK2B_uc003tkp.2_Missense_Mutation_p.L125F|CAMK2B_uc003tkr.2_Missense_Mutation_p.L125F|CAMK2B_uc003tks.2_Missense_Mutation_p.L125F|CAMK2B_uc003tku.2_Missense_Mutation_p.L125F|CAMK2B_uc003tkv.2_Missense_Mutation_p.L125F|CAMK2B_uc003tkt.2_Missense_Mutation_p.L125F|CAMK2B_uc003tkw.2_Missense_Mutation_p.L125F|CAMK2B_uc010kyc.2_Missense_Mutation_p.L125F	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	125	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGACAATGGAGAACGGCCTCC	0.592000														12			8		0	0	0.000673	0	0
MAGI1	9223	broad.mit.edu	37	3	65365218	65365218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:65365218C>T	uc003dmn.3	-	16	3239	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	MAGI1_uc003dmm.3_Missense_Mutation_p.E933K|MAGI1_uc003dmo.3_Missense_Mutation_p.E933K|MAGI1_uc003dmp.3_Missense_Mutation_p.E905K|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Missense_Mutation_p.E216K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	933					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.V904L(1)		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)		ACCTCGTTCTCGGTTTTGGGC	0.617000														55			33		0	0	0.004289	0	0
CD247	919	broad.mit.edu	37	1	167409913	167409913	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:167409913G>A	uc001gei.4	-	1	295	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CD247_uc001gej.4_Silent_p.F50F|CD247_uc001gek.2_Silent_p.F50F	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	50					T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TCACTCTCAGGAACAAGGCAG	0.557000														18			23		0	0	0.001512	0	0
DNAH8	1769	broad.mit.edu	37	6	38757653	38757653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38757653G>A	uc021yzh.1	+	18	2767	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	DNAH8_uc003ooe.2_Missense_Mutation_p.M669I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCCAAAAATGAAAAAGGTTG	0.338000														37			28		0	0	0.001271	0	0
OR52E6	390078	broad.mit.edu	37	11	5862851	5862851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5862851C>T	uc010qzq.2	-	0	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGATATTTCCTTGATATTG	0.473000														72			54		0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197391065	197391065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197391065G>A	uc001gtz.3	+	5	2316	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	CRB1_uc010poz.2_Missense_Mutation_p.E634K|CRB1_uc009wza.3_Missense_Mutation_p.E591K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.E703K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.E184K|CRB1_uc001gub.1_Missense_Mutation_p.E352K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	703	EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGCCCTATGAAGGCCCCAA	0.522000														24			26		0	0	0.001061	0	0
PLCE1	51196	broad.mit.edu	37	10	95892132	95892132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95892132C>T	uc001kjk.3	+	2	2042	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F	PLCE1_uc010qnx.2_Missense_Mutation_p.L470F|PLCE1_uc001kjm.3_Missense_Mutation_p.L162F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	470					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACCGGTTCTCTCCTAGAAGC	0.478000														43			35		0	0	0.003755	0	0
NKD1	85407	broad.mit.edu	37	16	50659401	50659401	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50659401C>T	uc002egg.2	+	5	596	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	124					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCCAGGAGCTCCAGTGCGACG	0.622000														28			10		0	0	0.001855	0	0
GPR112	139378	broad.mit.edu	37	X	135430785	135430785	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:135430785C>T	uc004ezu.1	+	5	5211	c.4920C>T	c.(4918-4920)atC>atT	p.I1640I	GPR112_uc010nsb.1_Silent_p.I1435I|GPR112_uc010nsc.1_Silent_p.I1407I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1640					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)					CTTCCAGGATCACACCTACGA	0.453000														17			67		0	0	0.003610	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746467	111746467	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111746467G>A	uc001pmc.4	-	4	1379	c.1054C>T	c.(1054-1056)Cta>Tta	p.L352L	ALG9_uc010rwo.2_Intron|FDXACB1_uc009yyi.3_Silent_p.L203L	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	352					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ACATGCACTAGGAGAGAAGGT	0.473000														61			35		0	0	0.004289	0	0
MCEE	84693	broad.mit.edu	37	2	71351523	71351523	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71351523A>T	uc002shs.2	-	1	236	c.191T>A	c.(190-192)tTt>tAt	p.F64Y		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	64					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATTCTTATAAAATGCTGCAGC	0.473000														93			47		0	0	0.003610	0	0
USHBP1	83878	broad.mit.edu	37	19	17373797	17373797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17373797G>A	uc002nfs.1	-	3	319	c.206C>T	c.(205-207)aCt>aTt	p.T69I	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.T5I|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	69							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCTTGTCAGTCCTGTGGAC	0.562000														35			34		0	0	0.004289	0	0
COL7A1	1294	broad.mit.edu	37	3	48623767	48623767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48623767G>A	uc003ctz.2	-	25	3549	c.3548C>T	c.(3547-3549)tCt>tTt	p.S1183F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1183	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTACCAGAAGCCTGGGC	0.587000														64			56		0	0	0.003610	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031899	132031899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:132031899C>T	uc011ece.2	-	0	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	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.	87						integral to membrane				endometrium(1)|lung(1)	2						CATTTTTCTTCAATTAGTCCA	0.383000														69			36		0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576801	24576801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24576801C>T	uc011djo.2	-	9	2029	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	KIAA0319_uc011djp.2_Missense_Mutation_p.G465E|KIAA0319_uc003neh.1_Missense_Mutation_p.G510E|KIAA0319_uc011djq.1_Missense_Mutation_p.G501E|KIAA0319_uc011djr.1_Missense_Mutation_p.G510E|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	510	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTTAGTGGCTCCGTCCGAGTC	0.488000														111			74		0	0	0.003610	0	0
MYADM	91663	broad.mit.edu	37	19	54376896	54376896	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54376896T>A	uc002qcm.3	+	2	261	c.113T>A	c.(112-114)cTc>cAc	p.L38H	MYADM_uc002qcl.3_Missense_Mutation_p.L38H|MYADM_uc002qcn.3_Missense_Mutation_p.L38H|MYADM_uc002qco.3_Missense_Mutation_p.L38H|MYADM_uc002qcp.3_Missense_Mutation_p.L38H|MYADM_uc021vbb.1_Missense_Mutation_p.L38H	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	38	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCCCTGGGTCTCCTTCGCCTG	0.662000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		14			12		0	0	0.001368	0	0
RGS9	8787	broad.mit.edu	37	17	63221186	63221186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:63221186C>T	uc002jfe.3	+	17	1677	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	RGS9_uc010dem.3_Missense_Mutation_p.P489S|RGS9_uc002jfd.3_Missense_Mutation_p.P489S|RGS9_uc002jfg.3_Missense_Mutation_p.P263S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	492					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCCCCCGTCTCCTTCTAGCCC	0.652000														10			67		0	0	0.003610	0	0
ZNF446	55663	broad.mit.edu	37	19	58991593	58991593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58991593G>A	uc002qsz.3	+	6	970	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	ZNF446_uc002qta.3_Silent_p.R256R|ZNF446_uc010eur.3_3'UTR|SLC27A5_uc002qtb.3_Non-coding_Transcript	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	285	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCGCCCCAGGGCCCAGGGCC	0.716000														10			8		0	0	0.004482	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139732	142139732	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142139732G>A	uc003vyt.3	-	0	84	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTCCCTAGGAAACCCAGGA	0.532000														11			77		0	0	0.003610	0	0
XIST	7503	broad.mit.edu	37	X	73062678	73062678	+	RNA	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73062678T>A	uc004ebm.1	-	0		c.9911A>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CAGCACAATCTTACCTAATAG	0.493000														5			25		0	0	0.003330	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945830	46945830	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46945830C>A	uc002zhl.2	-	4	1347	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L	SLC19A1_uc010gpy.1_Silent_p.L398L|SLC19A1_uc011aft.2_Silent_p.L358L|SLC19A1_uc002zhm.2_Silent_p.L398L|SLC19A1_uc010gpz.2_Silent_p.L277L	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	398					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCCCGAAGACCAGGGCACAGA	0.577000														54			29		3.90053e-15	8.20166e-15	0.002445	1	0
OR51B4	79339	broad.mit.edu	37	11	5322356	5322356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5322356C>T	uc010qza.2	-	0	821	c.821G>A	c.(820-822)aGc>aAc	p.S274N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGACATAGCTCATGGTAAT	0.418000														36			19		0	0	0.002299	0	0
TBC1D8	11138	broad.mit.edu	37	2	101656758	101656758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:101656758G>A	uc010fiv.3	-	5	1048	c.917C>T	c.(916-918)tCg>tTg	p.S306L	TBC1D8_uc010yvw.2_Missense_Mutation_p.S321L|TBC1D8_uc002tau.4_Missense_Mutation_p.S63L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	306	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGTCCAGAGCGAACAGTCCAC	0.577000														28			11		0	0	0.000978	0	0
DDX3X	1654	broad.mit.edu	37	X	41203558	41203558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:41203558C>T	uc004dfe.3	+	9	1786	c.931C>T	c.(931-933)Cga>Tga	p.R311*	DDX3X_uc010nhf.1_Nonsense_Mutation_p.R295*|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Nonsense_Mutation_p.R311*|DDX3X_uc011mkq.2_Nonsense_Mutation_p.R295*|DDX3X_uc011mkr.2_Nonsense_Mutation_p.R311*|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	311	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCAGCAGATTCGAGACTTGGA	0.413000										HNSCC(61;0.18)				18			108		0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200956032	200956032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200956032C>T	uc001gvs.2	-	25	3946	c.3629G>A	c.(3628-3630)cGa>cAa	p.R1210Q	KIF21B_uc009wzl.2_Missense_Mutation_p.R1210Q|KIF21B_uc001gvr.2_Missense_Mutation_p.R1210Q|KIF21B_uc010ppn.2_Missense_Mutation_p.R1210Q	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1210					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCTGTGGCTCGAGATTGCCT	0.557000														21			24		0	0	0.005443	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017472	33017472	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:33017472G>T	uc010abe.1	-	6	1224	c.1202C>A	c.(1201-1203)cCa>cAa	p.P401Q	N4BP2L2_uc001uug.2_Missense_Mutation_p.P284Q|N4BP2L2_uc010abd.1_Missense_Mutation_p.P314Q|N4BP2L2_uc001uuh.2_Missense_Mutation_p.P232Q|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.P386Q|N4BP2L2_uc021rhy.1_Non-coding_Transcript	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATCTTTCTTTGGTCTCTGTTC	0.453000														128			8		0.00448238	0.00930402	0.004482	1	0
OR4D6	219983	broad.mit.edu	37	11	59224979	59224979	+	Silent	SNP	C	T	T	rs146503258		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59224979C>T	uc010rku.2	+	0	546	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GTTATGTGCTCCAGGTGGTAA	0.512000														56			58		0	0	0.003610	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269724	1269724	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1269724G>A	uc010nyk.2	+	5	2439	c.2439G>A	c.(2437-2439)agG>agA	p.R813R		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	813					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ACCTGCCCAGGTGTTACCTGC	0.662000														9			13		0	0	0.002450	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614445	112614445	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:112614445C>T	uc002thi.3	-	11	1624	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	459					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TATCATTACTCTCTtgaaact	0.353000														66			7		0	0	0.004482	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419259	105419259	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105419259G>A	uc010axc.1	-	6	2649	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.F743F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	843						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)			CCGACACCCCGAATGATGGCA	0.617000														41			173		0	0	0.003610	0	0
PSG2	5670	broad.mit.edu	37	19	43579757	43579757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43579757C>T	uc002ovr.3	-	2	630	c.458G>A	c.(457-459)aGc>aAc	p.S153N	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	153	Ig-like C2-type 1.				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)				TAAGTTGCTGCTGGAGATGGA	0.507000														80			75		0	0	0.003610	0	0
SYCE1	93426	broad.mit.edu	37	10	135368878	135368878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:135368878C>T	uc001lno.2	-	11	1000	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E171K|SYCE1_uc009ybn.2_Missense_Mutation_p.E299K|SYCE1_uc001lnn.2_Missense_Mutation_p.E263K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	299					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCAGCCTCTTCCTCTTGTGTG	0.587000														53			42		0	0	0.003610	0	0
OR2J2	26707	broad.mit.edu	37	6	29141898	29141898	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29141898C>T	uc011dlm.2	+	0	588	c.486C>T	c.(484-486)tcC>tcT	p.S162S		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCATTCCTCCTTTACTTTCT	0.468000														96			68		0	0	0.003610	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798654	96798654	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96798654C>T	uc001kkb.3	-	8	1386	c.1291_splice	c.e8+1	p.G431_splice	CYP2C8_uc010qoa.2_Splice_Site_p.G361_splice|CYP2C8_uc010qoc.2_Splice_Site_p.G329_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.G345_splice|CYP2C8_uc021pwl.1_Splice_Site_p.G361_splice|CYP2C8_uc010qod.1_Splice_Site	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	431					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTCTATTACCTGCTGAGAAA	0.378000														31			17		0	0	0.002299	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982503	7982503	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7982503G>A	uc010sgh.2	-	3	507	c.486C>T	c.(484-486)ggC>ggT	p.G162G	SLC2A14_uc001qtk.3_Silent_p.G147G|SLC2A14_uc001qtl.3_Silent_p.G124G|SLC2A14_uc001qtm.3_Silent_p.G124G|SLC2A14_uc010sgg.2_Silent_p.G38G|SLC2A14_uc001qtn.3_Silent_p.G147G|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	147					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCAAGCGGCCCAGGATCA	0.532000														34			20		0	0	0.001882	0	0
TLR5	7100	broad.mit.edu	37	1	223286250	223286250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223286250G>A	uc021pjl.1	-	0	124	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	TLR5_uc001hnv.2_Missense_Mutation_p.P42S|TLR5_uc001hnw.2_Missense_Mutation_p.P42S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	42					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGGACCTGGGGGACCTGGGTG	0.537000														31			13		0	0	0.001368	0	0
CLDN9	9080	broad.mit.edu	37	16	3063838	3063838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3063838G>A	uc010uwo.1	+	0	1382	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	159					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CCTCAAGCGGGAGCTGGGGGC	0.706000														13			7		0	0	0.001984	0	0
PGD	5226	broad.mit.edu	37	1	10479551	10479551	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10479551C>T	uc001arc.3	+	11	1377	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	PGD_uc010oak.2_Silent_p.F407F	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	429					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		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)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCCTCTCCTTCTATGACGGGT	0.622000														56			40		0	0	0.001706	0	0
LMTK3	114783	broad.mit.edu	37	19	49004630	49004630	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49004630C>T	uc002pjk.3	-	9	998	c.998G>A	c.(997-999)tGg>tAg	p.W333*		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGTGGGATCCACAGGCGCTC	0.682000														16			10		0	0	0.000673	0	0
GIPC3	126326	broad.mit.edu	37	19	3590104	3590104	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3590104C>T	uc002lyd.4	+	5	882	c.855C>T	c.(853-855)tcC>tcT	p.S285S		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	285										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTAGACTCCGTCTTGGGCG	0.647000														15			11		0	0	0.000978	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266593	113266593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:113266593C>T	uc001ecu.3	+	3	361	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	FAM19A3_uc001ecv.3_Intron|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Intron	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA.	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACTGTGCTCGTAGAGACCC	0.612000														29			26		0	0	0.001512	0	0
C12orf51	283450	broad.mit.edu	37	12	112610513	112610513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:112610513G>A	uc021reb.1	-	66	11741	c.11345C>T	c.(11344-11346)cCc>cTc	p.P3782L		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						AGCATCCGCGGGGTCCAGGTA	0.637000														20			13		0	0	0.003163	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575123	74575123	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:74575123G>A	uc001dfy.4	-	4	1014	c.822C>T	c.(820-822)ttC>ttT	p.F274F	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	274										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTCAGGTTTGAAAAAGAGAT	0.254000														26			13		0	0	0.001855	0	0
MAST1	22983	broad.mit.edu	37	19	12976547	12976547	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12976547C>T	uc002mvm.3	+	15	1949	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	607	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCTGTGGCCCGAGGGGGATG	0.562000														53			24		0	0	0.004656	0	0
MAGEC3	139081	broad.mit.edu	37	X	140926198	140926198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140926198C>T	uc011mwp.2	+	0	97	c.97C>T	c.(97-99)Cca>Tca	p.P33S		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	33										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTTATCCCCAGTGGTGCT	0.562000														9			39		0	0	0.003610	0	0
MATN3	4148	broad.mit.edu	37	2	20205941	20205941	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:20205941G>A	uc002rdl.3	-	1	417	c.354C>T	c.(352-354)gcC>gcT	p.A118A	MATN3_uc010exu.1_Silent_p.A118A	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	118	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.P117S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCGTGTCGGCTGGCCCAA	0.522000														6			12		0	0	0.001368	0	0
ATP5L	10632	broad.mit.edu	37	11	118277725	118277725	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118277725C>T	uc001psx.3	+	1	403	c.126C>T	c.(124-126)acC>acT	p.T42T	ATP5L_uc021qrg.1_Non-coding_Transcript	NM_006476	NP_006467	O75964	ATP5L_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G (ATP5L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		TTCCTCCCACCCCTGCTGAGA	0.463000														10			11		0	0	0.000673	0	0
AK308309	0	broad.mit.edu	37	4	119434937	119434937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119434937C>T	uc010imy.1	+	1	292	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	CEP170P1_uc003icb.3_5'Flank					Homo sapiens cDNA, FLJ98257.																		TGCTGACAGACCCTTGAGTAA	0.423000														42			30		0	0	0.004878	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910803	108910803	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108910803A>G	uc002tdy.3	+	2	723	c.270A>G	c.(268-270)caA>caG	p.Q90Q	SULT1C2_uc010ywp.1_Missense_Mutation_p.N26S|SULT1C2_uc010ywq.2_Silent_p.Q90Q|SULT1C2_uc002tdx.3_Silent_p.Q90Q	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	90					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGCCACCCCAACCTTCTGGTG	0.502000														33			35		0	0	0.004878	0	0
FTSJD2	23070	broad.mit.edu	37	6	37429775	37429775	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:37429775C>T	uc003ons.3	+	11	1475	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	FTSJD2_uc010jwu.2_Silent_p.L352L	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	408					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AACCTTTGACCTGTTCACACC	0.473000														94			78		0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82818080	82818080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:82818080C>T	uc003kii.3	+	6	4311	c.3955C>T	c.(3955-3957)Cac>Tac	p.H1319Y	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.H1319Y|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1319	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACAAAATTTCACCCTGACAT	0.443000														14			20		0	0	0.001523	0	0
COBLL1	22837	broad.mit.edu	37	2	165551680	165551680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165551680G>A	uc002ucp.3	-	11	2558	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F	COBLL1_uc002ucq.3_Missense_Mutation_p.S741F|COBLL1_uc010zcw.2_Missense_Mutation_p.S846F|COBLL1_uc010zcx.2_Missense_Mutation_p.S787F|COBLL1_uc002ucn.3_Missense_Mutation_p.S207F|COBLL1_uc002uco.3_Missense_Mutation_p.S510F	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	817										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TATTTCCAAGGATTTGGGAGG	0.378000														53			69		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537588	54537588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54537588G>A	uc003dhf.3	+	4	499	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E57K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	151						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTGGGAAAGGAATTCATCTT	0.373000														65			34		0	0	0.002836	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337365	22337365	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22337365C>T	uc021rpg.1	+	1	219	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		CAAACTACTTCCCTTGGTATA	0.438000														89			72		0	0	0.003610	0	0
OR10J3	441911	broad.mit.edu	37	1	159283647	159283647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159283647G>A	uc010piu.2	-	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CTGTCCCAGGGAACTCTGGGA	0.532000														66			28		0	0	0.001061	0	0
IQCF1	132141	broad.mit.edu	37	3	51929152	51929152	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51929152C>A	uc003dbv.3	-	3	470	c.372G>T	c.(370-372)aaG>aaT	p.K124N	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	124	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCCCACTCCTTCCGGGAGA	0.597000														24			13		7.93312e-07	1.65966e-06	0.002450	1	0
NEGR1	257194	broad.mit.edu	37	1	71873224	71873224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:71873224C>T	uc001dfw.3	-	6	1198	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	NEGR1_uc001dfv.3_Missense_Mutation_p.G196R|NEGR1_uc010oqs.2_Missense_Mutation_p.G280R	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	324					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAGCGCTCCCGGTAATTCCA	0.393000														18			6		0	0	0.003080	0	0
EMR3	84658	broad.mit.edu	37	19	14774249	14774249	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14774249G>A	uc002mzi.4	-	2	328	c.180C>T	c.(178-180)ttC>ttT	p.F60F	EMR3_uc010dzp.3_Silent_p.F60F|EMR3_uc010xnv.2_Silent_p.F60F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	60	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TCTCCAAGGGGAATGTGAATA	0.393000														39			26		0	0	0.001512	0	0
DHX57	90957	broad.mit.edu	37	2	39074204	39074204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:39074204G>A	uc002rrf.3	-	10	2275	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	DHX57_uc002rrd.4_Missense_Mutation_p.P110S|DHX57_uc002rre.3_Missense_Mutation_p.P159S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	726							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)				TGATCAACAGGAAATGTACGA	0.348000														21			16		0	0	0.000958	0	0
CLVS1	157807	broad.mit.edu	37	8	62370915	62370915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:62370915C>T	uc003xuh.3	+	4	1115	c.791C>T	c.(790-792)cCt>cTt	p.P264L	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	264	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTAATACACCCTGAATTTTTG	0.413000														92			35		0	0	0.002522	0	0
CASR	846	broad.mit.edu	37	3	122003041	122003041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122003041C>T	uc003eew.4	+	6	2708	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	CASR_uc003eev.4_Missense_Mutation_p.P747L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	747					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACACCGCGCCCCCGTCAAGC	0.587000														26			17		0	0	0.001216	0	0
ADAM2	2515	broad.mit.edu	37	8	39682404	39682404	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39682404G>A	uc003xnj.3	-	3	276	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ADAM2_uc003xnk.3_Silent_p.P67P|ADAM2_uc011lck.2_Silent_p.P67P|ADAM2_uc003xnl.3_Silent_p.P67P	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	67					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)		TAAAATTATGGGGTAAAAAGT	0.264000														12			41		0	0	0.002522	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021436	46021436	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46021436C>T	uc002zfn.4	+	1	925	c.900C>T	c.(898-900)acC>acT	p.T300T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	305	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCACCACCTCCTGCTGCA	0.672000														32			14		0	0	0.004990	0	0
ASAP3	55616	broad.mit.edu	37	1	23763535	23763535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:23763535G>A	uc001bha.2	-	14	1469	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.P318S|ASAP3_uc010oea.1_Missense_Mutation_p.P440S	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	449	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGCCACGTGGGGTCTGCAGAG	0.687000														8			8		0	0	0.000443	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221377	1221377	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1221377C>T	uc003jbw.4	+	10	1706	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	550					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)			TCTTCTTCTTCGTGGTAGAGG	0.582000														20			13		0	0	0.001855	0	0
NLRP8	126205	broad.mit.edu	37	19	56487507	56487507	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56487507A>T	uc002qmh.3	+	7	2785	c.2714A>T	c.(2713-2715)aAg>aTg	p.K905M	NLRP8_uc010etg.3_Missense_Mutation_p.K886M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	905						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACTGAGAAAGTGTGACTTG	0.358000														38			15		0	0	0.004007	0	0
TRIML1	339976	broad.mit.edu	37	4	189060889	189060889	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:189060889C>T	uc003izm.1	+	0	292	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	59					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)		GCTGGAGGACCTTGGAGGGCC	0.602000														46			36		0	0	0.004289	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683869	3683869	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3683869C>T	uc002wja.3	-	4	1203	c.1203G>A	c.(1201-1203)tcG>tcA	p.S401S	SIGLEC1_uc002wiz.4_Silent_p.S401S|SIGLEC1_uc002wjc.3_Silent_p.S312S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	401	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGACAGGGCCCGAGCGCTCGC	0.617000														9			11		0	0	0.001855	0	0
NR5A2	2494	broad.mit.edu	37	1	200080356	200080356	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200080356G>A	uc001gvb.3	+	5	1343	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	NR5A2_uc001gvc.3_Silent_p.Q333Q|NR5A2_uc009wzh.3_Silent_p.Q339Q|NR5A2_uc010pph.2_Silent_p.Q307Q	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	379	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGCTGCTTCAGAACTGCTGGA	0.388000														36			34		0	0	0.001485	0	0
SYT1	6857	broad.mit.edu	37	12	79693260	79693260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:79693260C>T	uc001sys.3	+	8	1410	c.739C>T	c.(739-741)Cct>Tct	p.P247S	SYT1_uc001syt.3_Missense_Mutation_p.P247S|SYT1_uc001syu.3_Missense_Mutation_p.P244S|SYT1_uc001syv.3_Missense_Mutation_p.P247S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	247	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATTTAAAGTCCCTATGAACAC	0.418000														37			32		0	0	0.001512	0	0
OR52E4	390081	broad.mit.edu	37	11	5905749	5905749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5905749C>T	uc010qzs.2	+	0	227	c.227C>T	c.(226-228)tCc>tTc	p.S76F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGTCTGTCCACATCCACT	0.433000														82			42		0	0	0.001951	0	0
MYOF	26509	broad.mit.edu	37	10	95169408	95169408	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95169408C>T	uc001kin.3	-	5	645	c.522G>A	c.(520-522)tcG>tcA	p.S174S	MYOF_uc001kio.3_Silent_p.S174S|MYOF_uc001kip.4_Silent_p.S174S|MYOF_uc009xuf.2_Silent_p.S156S	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	174					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTGAGCTTCCGACACCGTCC	0.557000														125			87		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152285377	152285377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152285377G>A	uc001ezu.1	-	2	2021	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	662	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTGATGGGACCTGGGGTG	0.547000									Ichthyosis					176			82		0	0	0.003610	0	0
FLT4	2324	broad.mit.edu	37	5	180051016	180051016	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180051016C>T	uc003mlz.4	-	10	1546	c.1467G>A	c.(1465-1467)tgG>tgA	p.W489*	FLT4_uc003mma.4_Nonsense_Mutation_p.W489*|FLT4_uc003mmb.1_Nonsense_Mutation_p.W22*|FLT4_uc011dgy.2_Nonsense_Mutation_p.W489*	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	489	Ig-like C2-type 5.				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)	TCACCGCCCTCCAGTCACGGC	0.642000														6			17		0	0	0.004990	0	0
CTRC	11330	broad.mit.edu	37	1	15767060	15767060	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:15767060C>T	uc001awi.1	+	2	227	c.204C>T	c.(202-204)ttC>ttT	p.F68F	CTRC_uc001awj.1_Silent_p.F68F	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	68	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCAACTTCGTCCTCACTG	0.592000														12			10		0	0	0.001368	0	0
OR4C13	283092	broad.mit.edu	37	11	49974880	49974880	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49974880G>A	uc010rhz.2	+	0	938	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGTGTAGTAGGAAAGCTATTT	0.383000														10			17		0	0	0.000958	0	0
AMPD3	272	broad.mit.edu	37	11	10508849	10508849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10508849G>A	uc001min.1	+	5	1249	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	AMPD3_uc010rbz.1_Missense_Mutation_p.E134K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E293K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E300K|AMPD3_uc009yfy.2_Missense_Mutation_p.E293K	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	293					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATGTTAAACGAAATGTCCGA	0.498000														70			44		0	0	0.002522	0	0
ODZ3	55714	broad.mit.edu	37	4	183245390	183245390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183245390G>A	uc003ivd.1	+	0	292	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ODZ3_uc021xux.1_Missense_Mutation_p.E73K|ODZ3_uc010irv.1_Missense_Mutation_p.E73K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	73	Teneurin N-terminal.				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)		AGAAGCAGACGAGTTCACTAG	0.458000														24			22		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179581943	179581943	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179581943C>T	uc021vsy.1	-	84	22011	c.21786G>A	c.(21784-21786)ttG>ttA	p.L7262L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3923L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8189	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7262D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTTCTACCAAAGTCATCT	0.458000														25			19		0	0	0.001216	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586887	42586887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:42586887C>T	uc003xpi.1	+	4	565	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	146					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGACCCCTCCCGCCAGCTAC	0.532000														6			31		0	0	0.001512	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078599	40078599	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40078599C>T	uc003ayc.3	+	34	5763	c.5763C>T	c.(5761-5763)ttC>ttT	p.F1921F	CACNA1I_uc003ayd.3_Silent_p.F1886F|CACNA1I_uc003aye.3_Silent_p.F1836F|CACNA1I_uc003ayf.3_Silent_p.F1801F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1921					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGAGAACTTCCTGTGTGAGA	0.612000														16			15		0	0	0.002450	0	0
AK310441	0	broad.mit.edu	37	1	148891662	148891662	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:148891662G>A	uc009wkv.1	+	8		c.964G>A								Homo sapiens cDNA, FLJ17483.																		TTATAAATCAGAATAGCGTGG	0.398000														89			15		0	0	0.003163	0	0
CEP164	22897	broad.mit.edu	37	11	117252422	117252422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117252422C>T	uc001prc.3	+	12	1562	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	CEP164_uc001prb.3_Missense_Mutation_p.S475F|CEP164_uc010rxk.1_Missense_Mutation_p.S446F|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	472	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCAGGTTATCTCCTCCACTT	0.647000														9			4		0	0	0.000602	0	0
BCAT1	586	broad.mit.edu	37	12	24985736	24985736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:24985736C>T	uc001rgd.4	-	8	1492	c.965G>A	c.(964-966)gGg>gAg	p.G322E	BCAT1_uc001rgc.3_Missense_Mutation_p.G321E|BCAT1_uc010six.2_Missense_Mutation_p.G334E|BCAT1_uc010siy.2_Missense_Mutation_p.G285E|BCAT1_uc001rge.4_Missense_Mutation_p.G261E	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	322					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACTCTGTTCCCCTCCAGGGC	0.423000														6			11		0	0	0.000978	0	0
SERINC3	10955	broad.mit.edu	37	20	43142583	43142583	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:43142583G>A	uc002xme.3	-	1	272	c.138C>T	c.(136-138)ctC>ctT	p.L46L	SERINC3_uc002xmf.1_Silent_p.L46L|SERINC3_uc010ggs.1_Silent_p.L39L|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	46						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGCTCAGGAGGAGAATGAAAG	0.438000														100			25		0	0	0.001786	0	0
ABCE1	6059	broad.mit.edu	37	4	146044633	146044633	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:146044633C>T	uc003ijx.3	+	15	1961	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	ABCE1_uc003ijy.3_Silent_p.F507F|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	507	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	p.R506L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTTAGTTTCATACTCCATG	0.353000														36			26		0	0	0.001061	0	0
NLRP13	126204	broad.mit.edu	37	19	56423184	56423185	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56423184_56423185CC>TT	uc010ygg.2	-	4	2023_2024	c.1998_1999GG>AA	c.(1996-2001)ttggag>ttAAag	p.E667K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	667							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCGTCCTCCAAAATATTAA	0.406000														67			46		0	0	0.004672	0	0
C19orf6	91304	broad.mit.edu	37	19	1014470	1014470	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1014470G>A	uc002lqr.1	-	1	374	c.228C>T	c.(226-228)gcC>gcT	p.A76A	C19orf6_uc002lqs.1_Silent_p.A76A	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	76						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAACAGGGCCTAGGGGG	0.682000														27			12		0	0	0.004007	0	0
PANK4	55229	broad.mit.edu	37	1	2450650	2450650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:2450650C>T	uc001ajm.1	-	6	976	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	PANK4_uc010nza.1_Missense_Mutation_p.G284S	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	323					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATAAAGAAGCCTCCAAAGTAC	0.597000														26			26		0	0	0.004656	0	0
FILIP1	27145	broad.mit.edu	37	6	76023970	76023970	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76023970C>T	uc010kbe.3	-	5	2117	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V	FILIP1_uc003phy.1_Silent_p.V526V|FILIP1_uc003phz.3_Silent_p.V427V|FILIP1_uc003pia.3_Silent_p.V526V|FILIP1_uc003pib.1_Silent_p.V278V	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	526										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						TGAGTCCATCCACTTTTCTCT	0.303000														31			22		0	0	0.001882	0	0
CRYAA	1409	broad.mit.edu	37	21	44592345	44592345	+	Silent	SNP	C	T	T	rs150629848	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:44592345C>T	uc002zdd.1	+	2	546	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	159					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGCGAGCCATCCCCGTGTCGC	0.672000														23			6		0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61894112	61894112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61894112C>T	uc001jky.3	-	24	3096	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N	ANK3_uc001jkw.3_Missense_Mutation_p.D54N|ANK3_uc009xpa.3_Missense_Mutation_p.D54N|ANK3_uc001jkx.3_Missense_Mutation_p.D98N|ANK3_uc010qih.2_Missense_Mutation_p.D921N|ANK3_uc001jkz.4_Missense_Mutation_p.D914N|ANK3_uc001jla.1_5'UTR|ANK3_uc001jlb.1_Missense_Mutation_p.D427N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	920					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						TAAGACCTATCCGAACTGAAG	0.398000														19			14		0	0	0.003163	0	0
THBS2	7058	broad.mit.edu	37	6	169649039	169649039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:169649039C>T	uc003qwt.3	-	3	330	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	28	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGAAAAGGTCGAAGGTCGTG	0.612000														17			8		0	0	0.004482	0	0
NSUN2	54888	broad.mit.edu	37	5	6620225	6620225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:6620225G>A	uc003jdu.3	-	6	1190	c.809C>T	c.(808-810)cCt>cTt	p.P270L	NSUN2_uc003jdt.3_Missense_Mutation_p.P34L|NSUN2_uc011cmk.2_Missense_Mutation_p.P235L|NSUN2_uc003jdv.3_Missense_Mutation_p.P34L	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	270						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ATACCTGCAAGGGACATCACA	0.408000														38			32		0	0	0.001786	0	0
MYT1L	23040	broad.mit.edu	37	2	1893055	1893055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1893055C>T	uc002qxe.3	-	15	3305	c.2478G>A	c.(2476-2478)atG>atA	p.M826I	MYT1L_uc002qxd.3_Missense_Mutation_p.M824I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	826					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCGGGGTTTCATTTTGGTGT	0.547000														42			25		0	0	0.001061	0	0
DAZAP1	26528	broad.mit.edu	37	19	1430315	1430315	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1430315C>T	uc002lsn.3	+	9	1014	c.825C>T	c.(823-825)ccC>ccT	p.P275P	DAZAP1_uc002lsm.3_Silent_p.P275P	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	275	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		GAGGCTTTCCCCCTCCCCAGG	0.677000														10			7		0	0	0.003080	0	0
C20orf160	140706	broad.mit.edu	37	20	30605875	30605875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30605875G>A	uc002wxf.2	+	3	389	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	126										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						GCGCGACAATGAAGAGCTCAT	0.657000														24			11		0	0	0.000978	0	0
COL24A1	255631	broad.mit.edu	37	1	86557978	86557978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86557978G>A	uc001dlj.3	-	5	1700	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.S542F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	542	Collagen-like 1.				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)		TTGACCTGGGGAAAATCCTGG	0.303000														73			38		0	0	0.003610	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732590	37732590	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:37732590G>A	uc003xkm.2	-	2	1121	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	RAB11FIP1_uc003xkn.2_Silent_p.F355F|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.F203F	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	355					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTAGAAGAGAACAAATGCT	0.557000														22			122		0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166894560	166894560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166894560C>T	uc002udo.4	-	16	2899	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	SCN1A_uc010fpk.3_Missense_Mutation_p.G863E|SCN1A_uc021vsb.1_Missense_Mutation_p.G880E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	891						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTAAATTTCCCAGAGCCCC	0.443000														39			15		0	0	0.000958	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	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														14			56		0	0	0.003610	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031403	97031403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97031403G>A	uc001kkh.3	-	1	344	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	79	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTACAGTGAGAGTCAAGTTG	0.448000														105			73		0	0	0.003610	0	0
PRDM16	63976	broad.mit.edu	37	1	3328229	3328229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3328229C>T	uc001akf.3	+	8	1550	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	PRDM16_uc001ake.3_Missense_Mutation_p.P490S|PRDM16_uc009vlh.3_Missense_Mutation_p.P191S|PRDM16_uc001akc.3_Missense_Mutation_p.P490S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	490	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGAGTACTTTCCCTCCAGGCC	0.667000			T	EVI1	"""MDS, AML"""									42			34		0	0	0.001706	0	0
ZAN	7455	broad.mit.edu	37	7	100371095	100371095	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100371095C>T	uc003uwj.3	+	29	5778	c.5613C>T	c.(5611-5613)gaC>gaT	p.D1871D	ZAN_uc003uwk.3_Silent_p.D1871D|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.D448D|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1871	VWFC 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCACTGACCCAGCGGGCT	0.637000														12			11		0	0	0.000978	0	0
MC5R	4161	broad.mit.edu	37	18	13826711	13826711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:13826711G>A	uc010xaf.2	+	0	1169	c.947G>A	c.(946-948)aGg>aAg	p.R316K		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	316					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGTGGTTTCAGGATCGCCTGC	0.493000														75			35		0	0	0.004878	0	0
KCTD8	386617	broad.mit.edu	37	4	44177190	44177190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:44177190C>T	uc003gwu.3	-	1	1323	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	347						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						GTCCCACTTTCACTTCCTTTA	0.448000										HNSCC(17;0.042)				34			19		0	0	0.000743	0	0
MICAL3	57553	broad.mit.edu	37	22	18300464	18300464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:18300464G>A	uc002zng.4	-	25	5316	c.4963C>T	c.(4963-4965)Ctc>Ttc	p.L1655F	MICAL3_uc011agl.2_Missense_Mutation_p.L1571F|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1655						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGCCCCTGAGAGTGGGGCGT	0.701000														21			10		0	0	0.001855	0	0
RBM33	155435	broad.mit.edu	37	7	155567706	155567706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:155567706C>T	uc010lqk.1	+	17	3852	c.3484C>T	c.(3484-3486)Cac>Tac	p.H1162Y	RBM33_uc003wmg.2_Missense_Mutation_p.H98Y	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	1162	RRM.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGATTTGTCCCACATAAATGT	0.478000														49			26		0	0	0.001786	0	0
DSCAM	1826	broad.mit.edu	37	21	41725446	41725446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41725446C>T	uc002yyq.1	-	4	1332	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	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.	294	Ig-like C2-type 3.				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)				TTGGACACTTCACAAACATAG	0.527000														65			36		0	0	0.004878	0	0
AKNAD1	254268	broad.mit.edu	37	1	109363230	109363230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109363230C>T	uc001dwa.3	-	13	2455	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	729										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGAACAGATCCGTTTGGGTTT	0.328000														76			35		0	0	0.004289	0	0
SF3B3	23450	broad.mit.edu	37	16	70605667	70605668	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70605667_70605668CC>TT	uc002ezf.3	+	25	3816_3817	c.3605_3606CC>TT	c.(3604-3606)ccc>cTT	p.P1202L		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1202					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CGAACCCCACCCGAAGTGTCCA	0.510000														18			20		0	0	0.004672	0	0
CDH12	1010	broad.mit.edu	37	5	21752007	21752007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21752007C>T	uc010iuc.2	-	11	2682	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	CDH12_uc011cno.1_Missense_Mutation_p.E702K|CDH12_uc003jgk.2_Missense_Mutation_p.E742K|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACTCCCTTCGTAGGCATAT	0.507000										HNSCC(59;0.17)				57			38		0	0	0.002222	0	0
LAD1	3898	broad.mit.edu	37	1	201355941	201355941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201355941G>A	uc001gwm.3	-	2	783	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LAD1_uc009wzu.1_Missense_Mutation_p.S205F	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	183						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGGCATGGAGGACTTCTCCAA	0.567000														56			25		0	0	0.001271	0	0
CASQ1	844	broad.mit.edu	37	1	160163593	160163593	+	Missense_Mutation	SNP	G	A	A	rs138808242		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160163593G>A	uc010pja.2	+	2	678	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	141						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.A140A(1)|p.D141G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGAGTACGATGGCGAGTT	0.542000														33			71		0	0	0.003610	0	0
OR2G2	81470	broad.mit.edu	37	1	247751993	247751993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247751993G>A	uc010pyy.2	+	0	332	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	111					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)			CATGCCCTGGGATCCACTGAG	0.527000														61			66		0	0	0.003610	0	0
RHOD	29984	broad.mit.edu	37	11	66834276	66834276	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66834276C>T	uc001ojv.3	+	2	373	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	96					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGCTTTGCTTCGATGTCACCA	0.607000														47			32		0	0	0.003755	0	0
OR56A4	120793	broad.mit.edu	37	11	6023832	6023833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6023832_6023833GG>AA	uc010qzv.2	-	0	546_547	c.546_547CC>TT	c.(544-549)tgccat>tgTTat	p.H183Y		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAATGGATGGCAGATGGCCA	0.495000														10			11		0	0	0.004672	0	0
ACSS3	79611	broad.mit.edu	37	12	81532947	81532947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81532947C>T	uc001szl.1	+	3	774	c.683C>T	c.(682-684)cCt>cTt	p.P228L	ACSS3_uc001szm.1_Missense_Mutation_p.P227L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	228						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCATTGAACCTGGAAGGAGG	0.348000														25			19		0	0	0.001882	0	0
TEK	7010	broad.mit.edu	37	9	27202880	27202880	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:27202880T>G	uc011lno.2	+	11	2285	c.1843T>G	c.(1843-1845)Tct>Gct	p.S615A	TEK_uc003zqi.4_Missense_Mutation_p.S658A|TEK_uc011lnp.2_Missense_Mutation_p.S511A|TEK_uc003zqj.1_Missense_Mutation_p.S592A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	658	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGCTGTGATTTCTTGGACAAT	0.343000														20			40		0	0	0.003610	0	0
TET1	80312	broad.mit.edu	37	10	70446316	70446316	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70446316C>T	uc001jok.4	+	10	5761	c.5256C>T	c.(5254-5256)ccC>ccT	p.P1752P		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1752					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCCTGTTCCCCGTTCTGGAA	0.502000														43			26		0	0	0.001786	0	0
SCN1A	6323	broad.mit.edu	37	2	166901660	166901660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166901660C>T	uc002udo.4	-	11	1782	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	SCN1A_uc010fpk.3_Missense_Mutation_p.E519K|SCN1A_uc021vsb.1_Missense_Mutation_p.E519K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	519						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTTGGAATTCATCCTCATCT	0.438000														89			66		0	0	0.003610	0	0
SSX7	280658	broad.mit.edu	37	X	52677369	52677369	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:52677369C>T	uc004dqx.1	-	5	567	c.408G>A	c.(406-408)ggG>ggA	p.G136G		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACAGGTGTTTCCCATCGTTCT	0.483000														18			77		0	0	0.003610	0	0
DPYS	1807	broad.mit.edu	37	8	105436599	105436599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105436599C>T	uc003yly.4	-	6	1240	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	371					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATCTGTTTTCATCCATTTTA	0.338000														27			29		0	0	0.001061	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41052635	41052635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41052635C>T	uc003jmj.4	-	11	1652	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	388							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						TCCCGAGCTTCAATATAGGAC	0.408000														37			31		0	0	0.001512	0	0
ODZ1	10178	broad.mit.edu	37	X	123539080	123539080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:123539080C>T	uc010nqy.3	-	26	5256	c.5192G>A	c.(5191-5193)gGt>gAt	p.G1731D	ODZ1_uc011muj.2_Missense_Mutation_p.G1730D|ODZ1_uc004euj.3_Missense_Mutation_p.G1724D	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1724					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						ACGCAGGGAACCATCTGGATT	0.542000														5			20		0	0	0.001216	0	0
EFCAB4A	283229	broad.mit.edu	37	11	829389	829389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:829389G>A	uc001lrw.2	+	0	93	c.28G>A	c.(28-30)Gga>Aga	p.G10R	EFCAB4A_uc009ycm.1_Missense_Mutation_p.G103R|EFCAB4A_uc001lrv.2_Missense_Mutation_p.G103R			Q8N4Y2	EFC4A_HUMAN	Homo sapiens EF-hand calcium binding domain 4A (EFCAB4A), mRNA.	103					store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCAGCCCAGGGAGCGAACCC	0.677000														8			5		0	0	0.001984	0	0
MUC7	4589	broad.mit.edu	37	4	71347006	71347006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71347006C>T	uc011cat.2	+	3	833	c.545C>T	c.(544-546)tCc>tTc	p.S182F	MUC7_uc011cau.2_Missense_Mutation_p.S182F|MUC7_uc003hfj.3_Missense_Mutation_p.S182F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	182	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.567000														46			28		0	0	0.002836	0	0
NANOS3	342977	broad.mit.edu	37	19	13988435	13988435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13988435C>T	uc002mxj.4	+	0	373	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	106					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CGCCCACACCCGACGCTTCTG	0.657000														13			7		0	0	0.004482	0	0
CELA3B	23436	broad.mit.edu	37	1	22303555	22303555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:22303555C>T	uc001bfk.3	+	0	138	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CELA3B_uc009vqf.3_Missense_Mutation_p.S7F	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	8					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCTCAGTTCCCTCCTCCTT	0.527000														103			102		0	0	0.003610	0	0
ARMC2	84071	broad.mit.edu	37	6	109233635	109233636	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109233635_109233636GG>AT	uc003pss.4	+	9	1398_1399	c.1224_1225GG>AT	c.(1222-1227)ctggga>ctATga	p.G409*	ARMC2_uc011eao.2_Nonsense_Mutation_p.G244*	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	409							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTGGAAATCTGGGATTTCTTAA	0.332000														43			27		0	0	0.004672	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279727	17279728	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17279727_17279728GG>AA	uc010hev.3	-	17	1779_1780	c.1515_1516CC>TT	c.(1513-1518)agccat>agTTat	p.H506Y	TBC1D5_uc010heu.3_Missense_Mutation_p.H93Y|TBC1D5_uc003cbf.3_Missense_Mutation_p.H506Y|TBC1D5_uc003cbe.3_Missense_Mutation_p.H506Y|TBC1D5_uc010hew.1_Missense_Mutation_p.H458Y	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	506						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGCAAGTGATGGCTTGGGGCCT	0.500000														29			21		0	0	0.004672	0	0
GJA1	2697	broad.mit.edu	37	6	121768740	121768740	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:121768740G>A	uc003pyr.3	+	1	997	c.747G>A	c.(745-747)gcG>gcA	p.A249A	GJA1_uc011ebo.1_Silent_p.A150A|GJA1_uc011ebp.1_Silent_p.A37A|GJA1_uc021zel.1_Silent_p.A249A	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	249					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.A249A(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTTACCATGCGACCAGTGGTG	0.507000														40			19		0	0	0.001523	0	0
KCNH5	27133	broad.mit.edu	37	14	63174776	63174776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:63174776C>T	uc001xfx.3	-	10	2468	c.2417G>A	c.(2416-2418)gGa>gAa	p.G806E	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	806					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTTCCATTTCCATTCTTCAT	0.458000														15			56		0	0	0.003610	0	0
GRK7	131890	broad.mit.edu	37	3	141499437	141499437	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141499437C>T	uc011bnd.2	+	1	918	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	278	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACCTCAAGTTCCACATCTACA	0.557000														52			18		0	0	0.000958	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559022	129559022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129559022C>T	uc009zyl.1	-	8	3026	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	TMEM132D_uc001uia.2_Missense_Mutation_p.E438K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	900						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCATCCATTTCCCCATTGCTT	0.522000														31			16		0	0	0.004007	0	0
FBXO24	26261	broad.mit.edu	37	7	100187602	100187602	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100187602G>A	uc011kjz.1	+	1	224	c.156G>A	c.(154-156)gtG>gtA	p.V52V	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.V14V|FBXO24_uc003uvm.1_Silent_p.V14V|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.V2V	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	14	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGGGTAGGTGAAGAGAAGCT	0.557000														56			14		0	0	0.004990	0	0
VPS41	27072	broad.mit.edu	37	7	38857459	38857459	+	Silent	SNP	G	A	A	rs150900239		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:38857459G>A	uc003tgy.3	-	6	434	c.408C>T	c.(406-408)ttC>ttT	p.F136F	VPS41_uc003tgz.3_Silent_p.F111F|VPS41_uc010kxn.3_Silent_p.F136F	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	136					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.F136F(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGATCTCACGAAATGTGGGT	0.468000														60			30		0	0	0.002096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882225	228882225	+	Silent	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228882225A>C	uc002vpq.2	-	6	3392	c.3345T>G	c.(3343-3345)tcT>tcG	p.S1115S	SPHKAP_uc002vpp.2_Silent_p.S1115S|SPHKAP_uc010zlx.1_Silent_p.S1115S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1115						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)		GCTTGGAGACAGAGCTGGCCC	0.552000														19			13		0	0	0.002450	0	0
SYCE1	93426	broad.mit.edu	37	10	135369376	135369376	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:135369376C>T	uc001lno.2	-	9	732	c.627G>A	c.(625-627)gtG>gtA	p.V209V	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.V81V|SYCE1_uc009ybn.2_Silent_p.V209V|SYCE1_uc001lnn.2_Silent_p.V173V	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	209					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTGATGCTTCACGTCTTCCA	0.592000														20			7		0	0	0.003080	0	0
FGD5	152273	broad.mit.edu	37	3	14861370	14861370	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14861370G>A	uc003bzc.3	+	0	902	c.792G>A	c.(790-792)gaG>gaA	p.E264E	FGD5_uc011avk.2_Silent_p.E264E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	264	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGTCCAGGAGGCAGAGACAG	0.622000														7			10		0	0	0.000443	0	0
NBEA	26960	broad.mit.edu	37	13	35716405	35716405	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:35716405G>A	uc021rid.1	+	18	2871	c.2337_splice	c.e18-1	p.K779_splice	NBEA_uc021ric.1_Splice_Site_p.K779_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	779						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)		CTTCTCTCCAGGAGAAAAGTT	0.373000														99			24		0	0	0.002299	0	0
XIRP2	129446	broad.mit.edu	37	2	168101311	168101311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168101311G>A	uc002udx.3	+	8	3498	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D962N|XIRP2_uc010fpq.3_Missense_Mutation_p.D915N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	962					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGCCACTTGATACCATAAA	0.388000														23			27		0	0	0.001061	0	0
OR2G2	81470	broad.mit.edu	37	1	247752441	247752441	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247752441C>T	uc010pyy.2	+	0	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F260F(2)		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)			ccatcatcttcatgtatctgc	0.473000														35			46		0	0	0.003610	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395108	3395108	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3395108C>T	uc001akg.4	+	11	1994	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	ARHGEF16_uc001aki.3_Silent_p.P294P|ARHGEF16_uc001akj.3_Silent_p.P294P|ARHGEF16_uc010nzh.2_Silent_p.P286P	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	582	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGCCCCACCCCTTCCAGGTGA	0.667000														25			16		0	0	0.000743	0	0
MYH7B	57644	broad.mit.edu	37	20	33567514	33567514	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33567514C>T	uc002xbi.2	+	6	692	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MYH7B_uc010gfa.1_Silent_p.F83F	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	83	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)			CGCCTCGCTTCGACTTACTGG	0.632000														61			18		0	0	0.001523	0	0
RIMS2	9699	broad.mit.edu	37	8	105105856	105105856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105105856G>A	uc003yls.3	+	20	3120	c.2879G>A	c.(2878-2880)gGa>gAa	p.G960E	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.G1033E|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	410					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S960C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCCAGGAGGAAACAAGAAA	0.383000										HNSCC(12;0.0054)				51			14		0	0	0.003163	0	0
TTC40	54777	broad.mit.edu	37	10	134754510	134754510	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:134754510C>A	uc021qbc.1	-	3	462	c.361G>T	c.(361-363)Gga>Tga	p.G121*	TTC40_uc001llt.2_Nonsense_Mutation_p.G121*|TTC40_uc001llu.3_Nonsense_Mutation_p.G121*	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCGGTTCTCCTTTGGCAAAG	0.423000											OREG0020643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			10		3.07112e-06	6.42239e-06	0.000978	1	0
NTHL1	4913	broad.mit.edu	37	16	2096242	2096242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2096242G>A	uc002col.1	-	1	284	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	89					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGTCCTGGGGCTCCCAGACT	0.597000								Base excision repair (BER), DNA glycosylases						50			23		0	0	0.004656	0	0
DMXL2	23312	broad.mit.edu	37	15	51795147	51795147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:51795147G>A	uc010ufy.2	-	16	3073	c.2848C>T	c.(2848-2850)Cct>Tct	p.P950S	DMXL2_uc002abf.3_Missense_Mutation_p.P950S|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	950						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCACACTAGGAGAGGTTTCT	0.423000														58			29		0	0	0.002096	0	0
POLR2A	5430	broad.mit.edu	37	17	7405399	7405399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7405399C>T	uc002ghf.4	+	14	2916	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	844	Bridging helix.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATGGGGGGTCGTGAGGGGCT	0.587000														2			13		0	0	0.001855	0	0
ARAP1	116985	broad.mit.edu	37	11	72408231	72408231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:72408231G>A	uc001osu.3	-	21	3152	c.2963C>T	c.(2962-2964)tCc>tTc	p.S988F	ARAP1_uc001osv.3_Missense_Mutation_p.S988F|ARAP1_uc001osr.3_Missense_Mutation_p.S748F|ARAP1_uc001oss.3_Missense_Mutation_p.S743F|ARAP1_uc009yth.3_Missense_Mutation_p.S682F|ARAP1_uc010rre.2_Missense_Mutation_p.S743F	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	988	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GATGCCCTCGGAGGTCAGGCC	0.701000														78			51		0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197183873	197183873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:197183873C>T	uc002utm.1	-	8	1924	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	HECW2_uc002utl.1_Missense_Mutation_p.D225N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	581					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTCCCTGTGTCTGCGCCACTT	0.592000														16			14		0	0	0.004990	0	0
RLIM	51132	broad.mit.edu	37	X	73811373	73811373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73811373G>A	uc004ebu.3	-	4	2067	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	RLIM_uc004ebw.3_Missense_Mutation_p.H593Y	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	593					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTGGACATGGTACTCATGG	0.393000														5			24		0	0	0.003330	0	0
OR6X1	390260	broad.mit.edu	37	11	123624612	123624612	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123624612G>A	uc010rzy.2	-	0	615	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTGACCCTGGGATCACAAGGA	0.458000														56			41		0	0	0.001287	0	0
TTN	7273	broad.mit.edu	37	2	179577629	179577629	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179577629G>A	uc021vsy.1	-	90	23616	c.23391C>T	c.(23389-23391)atC>atT	p.I7797I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I4458I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8724	Ig-like 60.						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)			TTCCTTTTACGATACTTGTGA	0.413000														24			10		0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76567698	76567698	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76567698G>A	uc010dhp.2	-	3	831	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	DNAH17_uc002jvv.2_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGAGGTTCAGCAGCCGAGTG	0.652000														12			37		0	0	0.003214	0	0
LMX1A	4009	broad.mit.edu	37	1	165175192	165175192	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165175192G>A	uc001gcz.2	-	7	1091	c.897C>T	c.(895-897)ctC>ctT	p.L299L	LMX1A_uc021pdz.1_Silent_p.L299L|LMX1A_uc021pdy.1_Silent_p.L50L|LMX1A_uc001gcw.2_Silent_p.L17L	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	299						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCAGGAGCTGCTGTG	0.582000														37			43		0	0	0.002852	0	0
MAP3K5	4217	broad.mit.edu	37	6	136901503	136901503	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136901503C>T	uc003qhc.3	-	24	3814	c.3453G>A	c.(3451-3453)tgG>tgA	p.W1151*	MAP3K5_uc011edj.2_Nonsense_Mutation_p.W398*|MAP3K5_uc011edk.1_Nonsense_Mutation_p.W997*	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1151					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)		AGGCAAACATCCAGTGCGGCT	0.398000														52			17		0	0	0.000958	0	0
SCN10A	6336	broad.mit.edu	37	3	38768433	38768433	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38768433G>A	uc003ciq.3	-	15	2751	c.2751C>T	c.(2749-2751)atC>atT	p.I917I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	917					sensory perception	voltage-gated sodium channel complex		p.R916W(2)		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)	CAAAGACCTGGATCCGTGCCA	0.582000														59			39		0	0	0.002222	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297295	144297295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144297295G>A	uc003yxu.2	+	3	532	c.457G>A	c.(457-459)Ggg>Agg	p.G153R		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	153					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AACAGGCAAGGGGGCAGGCGG	0.682000														25			11		0	0	0.000978	0	0
MXRA5	25878	broad.mit.edu	37	X	3240723	3240724	+	Missense_Mutation	DNP	AA	GG	GG			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3240723_3240724AA>GG	uc004crg.4	-	4	3159_3160	c.3002_3003TT>CC	c.(3001-3003)ctt>cCC	p.L1001P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1001						extracellular region		p.L1001F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGTTGGAGTAAGGTGTGCAAA	0.465000														5			39		0	0	0.004672	0	0
ITPR1	3708	broad.mit.edu	37	3	4735411	4735411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:4735411G>A	uc003bqc.3	+	31	4572	c.4222G>A	c.(4222-4224)Gac>Aac	p.D1408N	ITPR1_uc021wsi.1_Missense_Mutation_p.D1414N|ITPR1_uc021wsj.1_Missense_Mutation_p.D1399N|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.	1423					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)		GACCCACGAGGACTGCATCCC	0.602000														10			4		0	0	0.000602	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877221	144877221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:144877221C>T	uc021ouh.1	-	27	4768	c.4466G>A	c.(4465-4467)cGg>cAg	p.R1489Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R1489Q|PDE4DIP_uc001elx.4_Missense_Mutation_p.R1445Q|PDE4DIP_uc001elv.4_Missense_Mutation_p.R496Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1489					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATTTTTTGCCGTAGGTAAGA	0.418000			T	PDGFRB	MPD									85			9		0	0	0.000673	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231398	100231398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:100231398C>T	uc003knk.3	-	1	533	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	ST8SIA4_uc003knl.3_Missense_Mutation_p.E69K	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	69					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTCCAACCTTCTACATTGTGC	0.378000														15			28		0	0	0.002445	0	0
KCTD3	51133	broad.mit.edu	37	1	215751065	215751065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215751065C>T	uc001hks.3	+	4	604	c.310C>T	c.(310-312)Cca>Tca	p.P104S	KCTD3_uc001hkt.3_Missense_Mutation_p.P104S|KCTD3_uc010pub.2_5'UTR|KCTD3_uc009xdn.3_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	104						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CGGGATCACTCCATTAGGTAT	0.338000														70			22		0	0	0.002299	0	0
KMO	8564	broad.mit.edu	37	1	241753371	241753371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241753371C>T	uc009xgp.3	+	12	1467	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	KMO_uc001hyy.3_Missense_Mutation_p.L413F|KMO_uc009xgo.2_Missense_Mutation_p.L426F	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	386					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGAGAGATTTCTTCATGCGAT	0.378000														57			69		0	0	0.003610	0	0
SLC3A1	6519	broad.mit.edu	37	2	44513207	44513207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44513207G>A	uc002ruc.4	+	3	880	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC3A1_uc002rty.3_Missense_Mutation_p.E268K|SLC3A1_uc002rtz.2_Missense_Mutation_p.E268K|SLC3A1_uc002rua.3_Missense_Mutation_p.E268K|SLC3A1_uc002rub.2_Missense_Mutation_p.E268K|SLC3A1_uc002rud.4_5'UTR	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	268			E -> K (in CSNU1; reduction in amino acid transport activity).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCACTTTGACGAAGTGCGAAA	0.358000														77			50		0	0	0.003610	0	0
ITGA3	3675	broad.mit.edu	37	17	48153727	48153727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48153727C>T	uc010dbm.3	+	12	2176	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	ITGA3_uc010dbl.3_Missense_Mutation_p.S571F	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	571					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ATCATCATCTCCATGAACTAC	0.637000														91			30		0	0	0.001512	0	0
SEC16A	9919	broad.mit.edu	37	9	139369688	139369688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:139369688G>A	uc004chx.3	-	2	2689	c.2380C>T	c.(2380-2382)Cct>Tct	p.P794S	SEC16A_uc004chv.4_Missense_Mutation_p.P421S|SEC16A_uc004chw.3_Missense_Mutation_p.P794S|SEC16A_uc010nbn.3_Missense_Mutation_p.P794S|SEC16A_uc010nbo.1_Missense_Mutation_p.P794S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	616					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATTTTGGGAGGATTCTCAAGG	0.582000														5			25		0	0	0.003954	0	0
RYR1	6261	broad.mit.edu	37	19	39034006	39034006	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39034006G>A	uc002oit.3	+	84	11839	c.11709G>A	c.(11707-11709)cgG>cgA	p.R3903R	RYR1_uc002oiu.3_Silent_p.R3898R|RYR1_uc002oiv.1_Silent_p.R812R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3903					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTACCTACGGACACAGACAG	0.483000														52			41		0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882665	144882665	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:144882665G>A	uc021ouh.1	-	23	3656	c.3354C>T	c.(3352-3354)ctC>ctT	p.L1118L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L1118L|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Silent_p.L125L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1118					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTTTGAGGAGGTTGATGA	0.453000			T	PDGFRB	MPD									171			72		0	0	0.003610	0	0
PDCL2	132954	broad.mit.edu	37	4	56428590	56428590	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:56428590C>T	uc003hbb.3	-	4	655	c.552G>A	c.(550-552)ggG>ggA	p.G184G		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	184										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TGAGATTTATCCCTCCACATT	0.323000														44			14		0	0	0.004007	0	0
CKAP2L	150468	broad.mit.edu	37	2	113518340	113518340	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113518340G>A	uc002tie.2	-	3	184	c.105_splice	c.e3-1	p.K35_splice	CKAP2L_uc002tif.2_Splice_Site|CKAP2L_uc010yxp.1_Splice_Site|CKAP2L_uc010yxq.1_Splice_Site	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	35						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTAGATAAGGCCTATAAAAG	0.274000														70			29		0	0	0.002836	0	0
LEP	3952	broad.mit.edu	37	7	127894657	127894657	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127894657G>A	uc003vml.2	+	2	402	c.345G>A	c.(343-345)aaG>aaA	p.K115K	LEP_uc003vmm.2_Silent_p.K114K	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	115					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CCTTCTCTAAGAGCTGCCACT	0.577000														9			73		0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215848027	215848027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215848027G>A	uc001hku.1	-	62	13613	c.13226C>T	c.(13225-13227)tCc>tTc	p.S4409F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4409	Fibronectin type-III 29.				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)		CTGCAGGTGGGAAACCAGCAG	0.483000										HNSCC(13;0.011)				62			24		0	0	0.005443	0	0
RGS7	6000	broad.mit.edu	37	1	241261968	241261968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241261968G>A	uc001hyv.2	-	2	503	c.173C>T	c.(172-174)tCt>tTt	p.S58F	RGS7_uc010pyh.2_Missense_Mutation_p.S32F|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.S58F|RGS7_uc009xgn.1_Missense_Mutation_p.S58F|RGS7_uc001hyw.2_Missense_Mutation_p.S58F	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	58	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.F57L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGACTTACCAGAGAAGACGCT	0.398000														34			14		0	0	0.003163	0	0
CNGA3	1261	broad.mit.edu	37	2	99012639	99012639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99012639G>A	uc010fij.3	+	7	1159	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	CNGA3_uc002syt.3_Missense_Mutation_p.V336I|CNGA3_uc002syu.3_Missense_Mutation_p.V318I			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	336					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGACTCCTGGGTCTACCCAAA	0.483000														39			32		0	0	0.003271	0	0
TOP1	7150	broad.mit.edu	37	20	39721132	39721132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:39721132C>T	uc002xjl.3	+	8	881	c.635C>T	c.(634-636)cCt>cTt	p.P212L	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	212					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GAGCGCTATCCTGAAGGCATC	0.413000			T	NUP98	AML*									23			60		0	0	0.003610	0	0
TRIM47	91107	broad.mit.edu	37	17	73872106	73872106	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:73872106G>A	uc002jpw.3	-	3	1104	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	TRIM47_uc002jpv.3_Silent_p.F121F	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	359						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGATTTGGTGAAGCTGAGCT	0.632000														12			42		0	0	0.003610	0	0
ADD2	119	broad.mit.edu	37	2	70922898	70922898	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:70922898G>A	uc021vjc.1	-	5	775	c.510C>T	c.(508-510)atC>atT	p.I170I	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.I170I|ADD2_uc002sgz.3_Silent_p.I170I|ADD2_uc010fdt.2_Silent_p.I170I|ADD2_uc002shc.2_Silent_p.I170I|ADD2_uc010fdu.2_Silent_p.I186I	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	170					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						CCTTAGGGCTGATCAGGAAGT	0.522000														17			17		0	0	0.002299	0	0
NEB	4703	broad.mit.edu	37	2	152422268	152422268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152422268G>A	uc021vrb.1	-	85	13149	c.13120C>T	c.(13120-13122)Cat>Tat	p.H4374Y	NEB_uc002txr.3_Missense_Mutation_p.H840Y|NEB_uc002txu.3_Missense_Mutation_p.H6075Y|NEB_uc021vrc.1_Missense_Mutation_p.H6075Y|NEB_uc010fnx.3_Missense_Mutation_p.H4362Y|NEB_uc021vrd.1_Missense_Mutation_p.H4374Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4374					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.H4374R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCCTTACATGGTCCACAGAA	0.493000														8			10		0	0	0.000443	0	0
CNTN4	152330	broad.mit.edu	37	3	2908486	2908486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2908486C>T	uc003bpc.3	+	7	844	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R169C|CNTN4_uc003bpd.1_Missense_Mutation_p.R169C	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	169	Ig-like C2-type 2.				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)		TCAGGATAATCGCCGCTTTGT	0.383000														68			36		0	0	0.003610	0	0
COL18A1	80781	broad.mit.edu	37	21	46901891	46901891	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46901891T>A	uc002zhi.3	+	12	2187	c.2166T>A	c.(2164-2166)ccT>ccA	p.P722P	COL18A1_uc002zhg.3_Silent_p.P542P	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	957	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCCAGGCCCTCCGGGAAGAG	0.597000														14			15		0	0	0.001523	0	0
SSTR3	6753	broad.mit.edu	37	22	37602969	37602969	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37602969A>C	uc003ara.3	-	1	936	c.874T>G	c.(874-876)Ttt>Gtt	p.F292V	SSTR3_uc003arb.3_Missense_Mutation_p.F292V|SSTR3_uc021wos.1_Missense_Mutation_p.F292V	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	292					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGAGCCCAAAGAAGGCAGGC	0.612000														39			29		0	0	0.001786	0	0
SAGE1	55511	broad.mit.edu	37	X	134992272	134992272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:134992272C>T	uc004ezh.3	+	14	1974	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	SAGE1_uc010nry.1_Missense_Mutation_p.P572S|SAGE1_uc011mvv.2_Missense_Mutation_p.P227S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	603										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GACTGTTCCACCAGCATTTAT	0.403000														10			44		0	0	0.003214	0	0
HMHA1	23526	broad.mit.edu	37	19	1068553	1068553	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1068553C>T	uc002lqz.1	+	1	462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	HMHA1_uc010xgd.1_Silent_p.F93F|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	77					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGGCTTCCCCCTGTCGG	0.761000														10			4		0	0	0.001984	0	0
KCNC1	3746	broad.mit.edu	37	11	17793712	17793712	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17793712G>A	uc009yhc.1	+	1	1126	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	KCNC1_uc001mnk.4_Silent_p.L357L	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	357						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGGCGTGCTGATCTTCGCCA	0.612000														14			10		0	0	0.000673	0	0
OR4C13	283092	broad.mit.edu	37	11	49974138	49974138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49974138C>T	uc010rhz.2	+	0	196	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCACTGAGATCCCCCATGTAC	0.428000														113			75		0	0	0.003610	0	0
WDR62	284403	broad.mit.edu	37	19	36591688	36591688	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36591688C>T	uc002odd.2	+	22	2869	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S	WDR62_uc002odc.2_Silent_p.S926S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	926					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCACCCCTCCTTCCTGCCCC	0.612000														36			24		0	0	0.004656	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963455	73963455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73963455G>A	uc004eby.3	-	2	1554	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	313					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						GATTCATATCGAATTTTCAGG	0.418000														11			40		0	0	0.001951	0	0
GRM8	2918	broad.mit.edu	37	7	126173045	126173045	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:126173045G>A	uc003vlr.2	-	7	2702	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.F797F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	797					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGATGGGGATGAAAGCTAACC	0.393000										HNSCC(24;0.065)				9			40		0	0	0.002852	0	0
ABCD2	225	broad.mit.edu	37	12	39980074	39980074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:39980074G>A	uc001rmb.2	-	6	2098	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	558	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R558R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACTTGATCCCGAAGACTTCCA	0.398000														41			30		0	0	0.002096	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514530	166514530	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166514530G>A	uc002udf.3	+	5	784	c.408_splice	c.e5+1	p.K136_splice	CSRNP3_uc002udg.3_Splice_Site_p.K136_splice	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	136					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAAAACTAAAGGTAAAAAACA	0.403000														17			7		0	0	0.001984	0	0
CAPSL	133690	broad.mit.edu	37	5	35910100	35910100	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35910100T>A	uc003jjt.1	-	3	488	c.393A>T	c.(391-393)atA>atT	p.I131I	CAPSL_uc003jju.1_Silent_p.I131I	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	131	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTCGATTGTTATAACACCAT	0.378000														71			45		0	0	0.002852	0	0
POLN	353497	broad.mit.edu	37	4	2160913	2160913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:2160913G>A	uc003ger.2	-	11	1592	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L	POLN_uc010icg.1_5'UTR|POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.P527L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	527					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGGGTAATGGATGAAGGTC	0.358000								DNA polymerases (catalytic subunits)						52			25		0	0	0.004289	0	0
DSC1	1823	broad.mit.edu	37	18	28725645	28725645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28725645G>A	uc002kwn.3	-	6	1130	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	DSC1_uc002kwm.3_Missense_Mutation_p.H290Y	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	290	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.H290Y(3)		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)			TGCTTTGGATGATCTGGGATT	0.408000														49			37		0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	8987295	8987295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8987295G>A	uc002mkp.3	-	67	41996	c.41792C>T	c.(41791-41793)aCc>aTc	p.T13931I	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.T748I|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13956				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						GTTGTTGATGGTGAAGTTCAG	0.592000														33			22		0	0	0.002299	0	0
FLNB	2317	broad.mit.edu	37	3	58139106	58139106	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:58139106C>T	uc003djj.2	+	38	6537	c.6372C>T	c.(6370-6372)atC>atT	p.I2124I	FLNB_uc010hne.2_Silent_p.I2155I|FLNB_uc003djk.2_Silent_p.I2113I|FLNB_uc010hnf.2_Silent_p.I2100I|FLNB_uc003djl.2_Silent_p.I1944I|FLNB_uc003djm.2_Silent_p.I1931I|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2124	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTTCAGAAATCAACAGCAGTG	0.592000														22			18		0	0	0.001523	0	0
PTPRB	5787	broad.mit.edu	37	12	70938397	70938397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70938397C>T	uc001swb.4	-	19	4810	c.4780G>A	c.(4780-4782)Gaa>Aaa	p.E1594K	PTPRB_uc010sto.2_Missense_Mutation_p.E1504K|PTPRB_uc010stp.2_Missense_Mutation_p.E1504K|PTPRB_uc001swc.4_Missense_Mutation_p.E1812K|PTPRB_uc001swa.4_Missense_Mutation_p.E1724K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1594					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTGAATTCCTTCAGGTCC	0.363000														24			19		0	0	0.002299	0	0
KLF17	128209	broad.mit.edu	37	1	44595031	44595031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:44595031G>A	uc001clp.3	+	1	146	c.88G>A	c.(88-90)Gag>Aag	p.E30K	KLF17_uc009vxf.1_5'UTR	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	30					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGGATAACGAGAACTCAGC	0.488000														86			60		0	0	0.003610	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074373	106074373	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106074373G>A	uc001kyf.3	-	2	1890	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	ITPRIP_uc001kye.3_Silent_p.I479I|ITPRIP_uc001kyg.3_Silent_p.I479I|ITPRIP_uc021pxv.1_Silent_p.I479I	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	479						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCGGTTGCCGATGAAGAAGT	0.637000														42			27		0	0	0.005443	0	0
DNAH8	1769	broad.mit.edu	37	6	38997991	38997991	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38997991C>T	uc021yzh.1	+	92	14056	c.13947C>T	c.(13945-13947)ctC>ctT	p.L4649L	DNAH8_uc003ooe.2_Silent_p.L4432L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACCCGTGCTCCACATCTTTG	0.507000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			33		0	0	0.003271	0	0
C1R	715	broad.mit.edu	37	12	7244175	7244175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7244175G>A	uc010sfy.2	-	1	163	c.104C>T	c.(103-105)cCc>cTc	p.P35L	C1R_uc010sfz.1_Missense_Mutation_p.P49L|C1R_uc021quh.1_5'UTR|C1R_uc010sga.1_Missense_Mutation_p.P35L	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	35	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GTAAGGCTTGGGGAACAGAGG	0.557000														3			3		0	0	0.004672	0	0
MED14	9282	broad.mit.edu	37	X	40572218	40572218	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:40572218A>T	uc004dex.4	-	5	869	c.729T>A	c.(727-729)gtT>gtA	p.V243V	MED14_uc010nhe.1_Silent_p.V127V	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	243	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACGCCATGGAACATCAGGGT	0.373000														2			13		0	0	0.001855	0	0
SP140L	93349	broad.mit.edu	37	2	231248225	231248225	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:231248225G>A	uc010fxm.1	+	8	729	c.638_splice	c.e8-1	p.R213_splice	SP140L_uc010fxo.1_Splice_Site_p.R20_splice	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	213						nucleus	DNA binding|metal ion binding	p.R213K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGTTTGAAGGAAAAAAGAAG	0.343000														4			3		0	0	0.004672	0	0
ALCAM	214	broad.mit.edu	37	3	105260559	105260559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:105260559C>T	uc003dvx.3	+	7	1637	c.941C>T	c.(940-942)tCc>tTc	p.S314F	ALCAM_uc003dvw.2_Missense_Mutation_p.S314F|ALCAM_uc003dvy.3_Missense_Mutation_p.S314F|ALCAM_uc011bhh.1_Missense_Mutation_p.S263F|ALCAM_uc010hpp.3_Intron|ALCAM_uc003dvz.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	314	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TACAAGTGTTCCCTGATAGAC	0.428000														30			28		0	0	0.005443	0	0
CNTN4	152330	broad.mit.edu	37	3	2967375	2967375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2967375G>A	uc003bpc.3	+	12	1609	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	CNTN4_uc003bpb.1_Missense_Mutation_p.E96K|CNTN4_uc021wsg.1_Missense_Mutation_p.E424K|CNTN4_uc003bpd.1_Missense_Mutation_p.E424K|CNTN4_uc003bpe.3_Missense_Mutation_p.E96K|CNTN4_uc003bpf.3_Missense_Mutation_p.E96K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	424	Ig-like C2-type 5.				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	p.E424K(1)|p.E96K(1)		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)		AGTGGGAGGTGAAGTTGTCAT	0.363000														97			74		0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881913	228881913	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228881913C>T	uc002vpq.2	-	6	3704	c.3657G>A	c.(3655-3657)tgG>tgA	p.W1219*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.W1219*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.W1219*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1219						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)		GGCCGGCTGTCCAATCCTGGC	0.572000														37			25		0	0	0.003954	0	0
FAM83B	222584	broad.mit.edu	37	6	54735196	54735196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:54735196G>A	uc003pck.3	+	1	268	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	51								p.R51*(1)|p.R51R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCAGGAACGAGTTTCAGAC	0.383000														46			20		0	0	0.001216	0	0
C7orf62	219557	broad.mit.edu	37	7	88423752	88423752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:88423752C>T	uc003ujv.3	-	1	687	c.505G>A	c.(505-507)Gag>Aag	p.E169K	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.E169K	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	169										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTGATGACCTCCTTTAGGGAC	0.408000														38			60		0	0	0.003610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142078	3142078	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3142078C>T	uc002ctv.1	-	1	559	c.471G>A	c.(469-471)caG>caA	p.Q157Q	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Intron|ZSCAN10_uc002ctx.1_Silent_p.Q85Q	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	157	Pro-rich.				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						GGAATGTCTTCTGGGGCCCCG	0.662000														13			13		0	0	0.002450	0	0
MYOF	26509	broad.mit.edu	37	10	95088581	95088581	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95088581G>A	uc001kin.3	-	44	5193	c.5070C>T	c.(5068-5070)atC>atT	p.I1690I	MYOF_uc001kio.3_Silent_p.I1677I|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1690					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTCGGAAAGGATGGGTTGTG	0.458000														143			72		0	0	0.003610	0	0
PEX6	5190	broad.mit.edu	37	6	42935153	42935153	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:42935153G>T	uc003otf.3	-	7	1930	c.1837C>A	c.(1837-1839)Ccc>Acc	p.P613T	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	613					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TGGCCCAGGGGAAGGTGGGCA	0.617000														17			8		0.000274275	0.000572066	0.004482	1	0
BUB1B	701	broad.mit.edu	37	15	40500938	40500938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40500938C>T	uc001zkx.4	+	15	2322	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S		NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	704					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTTCAAATTCCTGAGAAACT	0.433000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					20			8		0	0	0.000443	0	0
PKD1	5310	broad.mit.edu	37	16	2159291	2159291	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2159291G>A	uc002cos.1	-	14	6086	c.5877C>T	c.(5875-5877)gcC>gcT	p.A1959A	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.A1959A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1959	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTGCGCCTGGGCCCAGCTCA	0.687000														6			8		0	0	0.003080	0	0
CD2	914	broad.mit.edu	37	1	117297170	117297170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:117297170C>T	uc001egu.4	+	0	85	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CD2_uc010owz.1_Missense_Mutation_p.S19F|CD2_uc010oxa.1_Missense_Mutation_p.S19F	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	19					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AATGTTTCTTCCAAAGGTAAG	0.403000														35			31		0	0	0.003271	0	0
PER2	8864	broad.mit.edu	37	2	239167210	239167210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:239167210G>A	uc002vyc.3	-	14	1940	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	PER2_uc010znv.1_Missense_Mutation_p.P568L	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	568	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAACTCCTCGGGGAAGCTGAC	0.547000														23			15		0	0	0.002450	0	0
GPR116	221395	broad.mit.edu	37	6	46846123	46846123	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46846123C>T	uc003oyo.3	-	9	1345	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.L352L|GPR116_uc010jzi.1_Silent_p.L24L|GPR116_uc003oyr.2_Silent_p.L352L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	352	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTCTAATATCAGTTTGCAAA	0.328000														17			11		0	0	0.000978	0	0
TNXB	7148	broad.mit.edu	37	6	32029481	32029481	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32029481G>A	uc003nzl.2	-	20	7387	c.7185C>T	c.(7183-7185)acC>acT	p.T2395T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2455	Fibronectin type-III 16.				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						TGGGGCTGGGGGTCTCTTCCT	0.627000														111			84		0	0	0.003610	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885081	88885081	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:88885081C>T	uc003ydz.3	-	0	1216	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	373										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCGGAAGCCCCCGAGGCGAG	0.597000														44			6		0	0	0.001168	0	0
MYH7	4625	broad.mit.edu	37	14	23884284	23884284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23884284C>T	uc001wjx.3	-	36	5585	c.5479G>A	c.(5479-5481)Gag>Aag	p.E1827K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1827					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)		TGCTCGGCCTCCAGCTCATTC	0.657000														11			77		0	0	0.003610	0	0
TNS4	84951	broad.mit.edu	37	17	38645133	38645133	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38645133G>A	uc010cxb.3	-	2	692	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	176	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAAGGGAGCCGAAGGGCGGGG	0.622000														18			74		0	0	0.003610	0	0
MCHR2	84539	broad.mit.edu	37	6	100395740	100395740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:100395740C>T	uc003pqh.1	-	2	605	c.290G>A	c.(289-291)gGa>gAa	p.G97E	MCHR2_uc003pqi.1_Missense_Mutation_p.G97E	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	97						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G96E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACCCACTCTCCCCCTCGGGC	0.488000														50			33		0	0	0.002096	0	0
SUSD4	55061	broad.mit.edu	37	1	223465797	223465797	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223465797G>A	uc001hnx.3	-	1	979	c.345C>T	c.(343-345)tcC>tcT	p.S115S	SUSD4_uc001hny.4_Silent_p.S115S|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.S115S|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	115	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCACACAGATGGAATTATCAC	0.488000														91			43		0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	176002428	176002428	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176002428G>A	uc021yie.1	+	9	1042	c.768_splice	c.e9+1	p.K256_splice	CDHR2_uc003mem.2_Splice_Site_p.K256_splice|CDHR2_uc003men.1_Splice_Site_p.K256_splice	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	256	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCAGCCAAGGTGCACGGGGG	0.637000														9			15		0	0	0.004007	0	0
MORC1	27136	broad.mit.edu	37	3	108822724	108822724	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108822724G>A	uc003dxl.3	-	3	282	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MORC1_uc011bhn.2_Silent_p.F65F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	65					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATCATCCAGGAAACACAACA	0.358000														40			36		0	0	0.002222	0	0
MATK	4145	broad.mit.edu	37	19	3778394	3778394	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3778394C>T	uc002lyt.3	-	13	1711	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V	MATK_uc002lyv.3_Silent_p.V438V|MATK_uc002lyu.3_Silent_p.V396V|MATK_uc010dtq.3_Silent_p.V436V	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	437	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCTTCTCCACGGCCTCCG	0.706000														26			16		0	0	0.000958	0	0
TTN	7273	broad.mit.edu	37	2	179497958	179497958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179497958G>A	uc021vsy.1	-	181	35563	c.35338C>T	c.(35338-35340)Cac>Tac	p.H11780Y	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H5475Y|TTN_uc021vta.1_Missense_Mutation_p.H5408Y|TTN_uc021vtb.1_Missense_Mutation_p.H5283Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12707	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGCCGTGAACATCAGGT	0.448000														28			31		0	0	0.001271	0	0
FLT1	2321	broad.mit.edu	37	13	28877378	28877378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:28877378C>T	uc001usb.3	-	29	4228	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	FLT1_uc010aap.2_Missense_Mutation_p.E320K|FLT1_uc010aaq.2_Missense_Mutation_p.E440K|FLT1_uc001usa.3_Missense_Mutation_p.E533K	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.	1315					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)	ATTTTCCTTTCCAGCTCAGCG	0.582000														35			26		0	0	0.003954	0	0
CALCRL	10203	broad.mit.edu	37	2	188210969	188210969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188210969C>T	uc010frt.3	-	13	1711	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	CALCRL_uc002upv.4_Missense_Mutation_p.G443E	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	443						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GATGCTTTTTCCATTTAAGTG	0.358000														29			16		0	0	0.001523	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434112	22434112	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22434112C>T	uc021rpm.1	+	1	203	c.165C>T	c.(163-165)ttC>ttT	p.F55F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		TTCAATACTTCATGTGGTACA	0.463000														69			54		0	0	0.003610	0	0
IGSF1	3547	broad.mit.edu	37	X	130409593	130409593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:130409593C>T	uc004ewe.4	-	15	3341	c.3058G>A	c.(3058-3060)Gga>Aga	p.G1020R	IGSF1_uc004ewd.3_Missense_Mutation_p.G1015R|IGSF1_uc022cdv.1_Missense_Mutation_p.G1006R|IGSF1_uc004ewf.2_Missense_Mutation_p.G995R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1015	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGGTGGATCCCCAGAGCTGC	0.532000														3			20		0	0	0.001882	0	0
ABCA12	26154	broad.mit.edu	37	2	215820071	215820071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215820071G>A	uc002vew.3	-	42	6468	c.6248C>T	c.(6247-6249)tCc>tTc	p.S2083F	ABCA12_uc002vev.3_Missense_Mutation_p.S1765F|ABCA12_uc010zjn.2_Missense_Mutation_p.S1010F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2083					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTACATCCAGGAAAATGTTGC	0.438000														10			13		0	0	0.001855	0	0
UPK1B	7348	broad.mit.edu	37	3	118906807	118906807	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:118906807G>A	uc003ecc.3	+	2	344	c.255G>A	c.(253-255)agG>agA	p.R85R	UPK1B_uc011bix.2_Silent_p.R5R|UPK1B_uc003ecd.3_Silent_p.R85R	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	85					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGTCCAGCAGGAAAATTCTTC	0.468000														40			20		0	0	0.002780	0	0
C20orf118	140711	broad.mit.edu	37	20	35506362	35506362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:35506362G>A	uc002xgg.1	+	1	102	c.94G>A	c.(94-96)Gag>Aag	p.E32K	C20orf118_uc021wcz.1_Missense_Mutation_p.E32K	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	32	Poly-Glu.									kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				agaggaggaggaggCAGCTCC	0.612000														48			25		0	0	0.003330	0	0
RPTN	126638	broad.mit.edu	37	1	152127612	152127612	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152127612T>C	uc001ezs.1	-	2	2028	c.1963A>G	c.(1963-1965)Agc>Ggc	p.S655G		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	655	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.S655N(1)		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						TGATGTTGGCTATCCTCTTCA	0.512000														45			47		0	0	0.003610	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056793	120056793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120056793G>A	uc001ehv.1	+	3	792	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	216					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TCAAGTGTTGGAAAGTTCTCC	0.522000														32			28		0	0	0.001786	0	0
MYO5B	4645	broad.mit.edu	37	18	47438483	47438483	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:47438483G>A	uc002leb.2	-	17	2439	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	717	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCTGTGTTGGCGAGCTCTC	0.562000														82			77		0	0	0.003610	0	0
FAM71A	149647	broad.mit.edu	37	1	212799806	212799806	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:212799806C>T	uc010pth.1	-	0		c.308G>A			FAM71A_uc001hjk.3_Silent_p.F529F			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAGCTCTTTCCTGAGGAACG	0.547000														35			15		0	0	0.003163	0	0
NDST3	9348	broad.mit.edu	37	4	118975303	118975303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:118975303G>A	uc003ibx.3	+	1	641	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	NDST3_uc011cgf.1_Missense_Mutation_p.V80I|NDST3_uc003ibw.3_Missense_Mutation_p.V80I	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	80	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			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						AGACCCCACAGTCCTAGTATT	0.433000														51			27		0	0	0.001786	0	0
TRPC4	7223	broad.mit.edu	37	13	38211199	38211199	+	Silent	SNP	C	T	T	rs149495867		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38211199C>T	uc010abx.3	-	10	3025	c.2790G>A	c.(2788-2790)aaG>aaA	p.K930K	TRPC4_uc010abv.3_Silent_p.K505K|TRPC4_uc001uwt.3_Silent_p.K841K|TRPC4_uc001uws.3_Silent_p.K925K|TRPC4_uc010tey.2_Silent_p.K784K|TRPC4_uc010abw.3_Silent_p.K752K|TRPC4_uc010aby.3_Silent_p.K776K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	925	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GACACACTCTCTTTCCTACCT	0.468000														63			28		0	0	0.001271	0	0
PLCL2	23228	broad.mit.edu	37	3	17052786	17052786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17052786G>A	uc011awc.2	+	2	2020	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	PLCL2_uc011awd.2_Missense_Mutation_p.E524K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	650	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTCCTTTAATGAAGTGCTTGC	0.413000														65			42		0	0	0.003214	0	0
LRTM1	57408	broad.mit.edu	37	3	54958979	54958979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54958979G>A	uc003dhl.3	-	1	405	c.271C>T	c.(271-273)Cct>Tct	p.P91S	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.	91						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)		AAAGCTCCAGGGGCCAGATTT	0.453000														24			19		0	0	0.001216	0	0
DARC	2532	broad.mit.edu	37	1	159175620	159175620	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159175620C>T	uc001ftp.4	+	0	572	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	DARC_uc001fto.3_Silent_p.L131L	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	131					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTGTGTAGCCTGGGCTACTG	0.642000														25			32		0	0	0.002445	0	0
ANO4	121601	broad.mit.edu	37	12	101436175	101436176	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101436175_101436176CT>TA	uc010svm.1	+	11	1655_1656	c.1083_1084CT>TA	c.(1081-1086)ctcttc>ctTAtc	p.F362I	ANO4_uc001thw.2_Missense_Mutation_p.F327I|ANO4_uc001thx.2_Missense_Mutation_p.F362I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	362						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCGGCATGCTCTTCCCAGCTGC	0.490000										HNSCC(74;0.22)				37			22		0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10357094	10357094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10357094C>T	uc002gmn.3	-	22	2911	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	934					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGATCTCTTCCTCATCCTCA	0.443000														52			223		0	0	0.003610	0	0
MTMR11	10903	broad.mit.edu	37	1	149901688	149901688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:149901688G>A	uc001etl.4	-	15	2019	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.R518C	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	590	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGAGCCAACGAGAAGAGACT	0.592000														23			46		0	0	0.003610	0	0
COL4A6	1288	broad.mit.edu	37	X	107414671	107414671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:107414671C>T	uc004enw.4	-	32	3329	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	COL4A6_uc004env.4_Missense_Mutation_p.E1075K|COL4A6_uc011msn.2_Missense_Mutation_p.E1075K|COL4A6_uc010npk.3_Missense_Mutation_p.E1075K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1076	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCGGAAATTTCAACTGTCTGG	0.443000									Alport syndrome with Diffuse Leiomyomatosis					9			35		0	0	0.001287	0	0
KAT6A	7994	broad.mit.edu	37	8	41790311	41790311	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:41790311G>A	uc010lxb.3	-	17	5971	c.5427C>T	c.(5425-5427)acC>acT	p.T1809T	KAT6A_uc010lxc.3_Silent_p.T1809T|KAT6A_uc003xon.4_Silent_p.T1809T	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1809					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTGGCGTCATGGTGGCTTGTG	0.532000														17			54		0	0	0.003610	0	0
AATF	26574	broad.mit.edu	37	17	35345953	35345953	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:35345953C>T	uc002hni.3	+	5	1334	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	361	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACTTTACAGTCTACAGGAACC	0.498000														5			30		0	0	0.001786	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894836	48894836	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:48894836A>T	uc003gyt.3	-	5	539	c.336T>A	c.(334-336)ttT>ttA	p.F112L	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	112	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GATCTTCAAAAAAATGGAATT	0.398000														102			71		0	0	0.003610	0	0
CXCR7	57007	broad.mit.edu	37	2	237490196	237490196	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237490196G>A	uc021vys.1	+	1	1089	c.1089_splice	c.e1+1	p.*363_splice	CXCR7_uc010fyq.3_Silent_p.*363*|CXCR7_uc002vwd.3_Silent_p.*363*	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	0					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AGCACCAAATGATCTGCCCTG	0.512000														25			17		0	0	0.000958	0	0
DNAI2	64446	broad.mit.edu	37	17	72278044	72278044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72278044G>A	uc002jkf.3	+	1	198	c.88G>A	c.(88-90)Gac>Aac	p.D30N	DNAI2_uc002jkg.3_Missense_Mutation_p.D30N|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	30					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGAACATCGACATCATGCC	0.602000									Kartagener syndrome					11			66		0	0	0.003610	0	0
TYW1	55253	broad.mit.edu	37	7	66489985	66489985	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:66489985T>A	uc003tvn.3	+	6	1109	c.960T>A	c.(958-960)atT>atA	p.I320I	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	320					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGGGCAAAATTATGGATCATG	0.408000														43			22		0	0	0.003330	0	0
SEMA4D	10507	broad.mit.edu	37	9	92007373	92007373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:92007373G>A	uc004aqo.1	-	9	1159	c.587C>T	c.(586-588)cCt>cTt	p.P196L	SEMA4D_uc011ltm.1_Missense_Mutation_p.P196L|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.P196L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	196	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.P196H(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCCTCAGAGGACTGTGGGA	0.498000														16			62		0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75055612	75055612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:75055612C>T	uc001dgg.3	-	11	2098	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.D421N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	627	Glu-rich.							p.D627G(1)		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						CTTGGCTTATCATTTTCACTC	0.458000														63			38		0	0	0.001706	0	0
ARID5A	10865	broad.mit.edu	37	2	97217569	97217569	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97217569T>C	uc002swe.3	+	6	1404	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	ARID5A_uc010yuq.2_Missense_Mutation_p.F383S|ARID5A_uc002swf.3_Missense_Mutation_p.F271S|ARID5A_uc002swg.3_Missense_Mutation_p.F383S	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	435					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCGCCCACCTTCCCCAGTAGC	0.662000														16			12		0	0	0.004007	0	0
LETM1	3954	broad.mit.edu	37	4	1843241	1843241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:1843241G>A	uc003gdv.3	-	2	724	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Missense_Mutation_p.P143S	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	143					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTGCGGGGGGGCTGTACACC	0.597000														16			13		0	0	0.001368	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838527	43838527	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:43838527C>T	uc002zbe.3	+	6	939	c.855C>T	c.(853-855)ttC>ttT	p.F285F	UBASH3A_uc002zbf.3_Silent_p.F247F|UBASH3A_uc010gpe.3_Silent_p.F247F|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	285	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAGCCCTATTCCAGTACAAAC	0.532000														57			43		0	0	0.003610	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561747	44561747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44561747G>A	uc003tlb.3	-	10	2788	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F	NPC1L1_uc011kbw.2_Missense_Mutation_p.S865F|NPC1L1_uc003tlc.3_Missense_Mutation_p.S911F|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	911					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCCTCGCTGGAGAAGTTGTA	0.537000														14			7		0	0	0.001984	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397298	17397298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17397298C>T	uc010xpn.1	+	7	1844	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.L595L|ANKLE1_uc010eao.1_Silent_p.L591L|ANKLE1_uc002nfy.2_Silent_p.L558L|ANKLE1_uc002nfz.2_Silent_p.L301L			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	557						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCGTGCCCTCCTTGTCTTCC	0.657000														11			6		0	0	0.001168	0	0
TTLL10	254173	broad.mit.edu	37	1	1120453	1120453	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1120453G>A	uc001acy.2	+	12	1516	c.1365G>A	c.(1363-1365)cgG>cgA	p.R455R	TTLL10_uc010nyg.1_Silent_p.R455R|TTLL10_uc001acz.2_Silent_p.R382R	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGAAGGCCCGGGGCCTCGCCA	0.617000														16			9		0	0	0.000443	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190615320	190615320	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:190615320A>T	uc002uqz.1	-	7	1763	c.1229T>A	c.(1228-1230)tTa>tAa	p.L410*	OSGEPL1_uc002ura.1_Non-coding_Transcript|Y_RNA_uc021vua.1_5'Flank	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA.	410					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CTCCATTTTTAATTGTGGTAC	0.299000														11			5		0	0	0.001984	0	0
RAI1	10743	broad.mit.edu	37	17	17701219	17701219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:17701219C>T	uc002grm.3	+	2	5426	c.4957C>T	c.(4957-4959)Cct>Tct	p.P1653S	RAI1_uc002grn.1_Missense_Mutation_p.P1653S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1653						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCACACTCCCTGGAGGCTC	0.647000														3			29		0	0	0.001512	0	0
GPR116	221395	broad.mit.edu	37	6	46828586	46828586	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46828586G>A	uc003oyo.3	-	15	2534	c.2245C>T	c.(2245-2247)Ctg>Ttg	p.L749L	GPR116_uc011dwj.1_Silent_p.L304L|GPR116_uc011dwk.1_Silent_p.L178L|GPR116_uc003oyp.3_Silent_p.L607L|GPR116_uc003oyq.3_Silent_p.L749L|GPR116_uc010jzi.1_Silent_p.L421L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	749					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGATCCTTCAGGTATGTAGGG	0.413000														36			22		0	0	0.003330	0	0
DCC	1630	broad.mit.edu	37	18	50985705	50985705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:50985705G>A	uc002lfe.2	+	23	4112	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	DCC_uc010dpf.2_Missense_Mutation_p.E801K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1166					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAAAATATTGAAAAGCCATC	0.537000														64			35		0	0	0.002836	0	0
C6	729	broad.mit.edu	37	5	41159322	41159322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41159322G>A	uc003jmk.2	-	11	1928	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	C6_uc003jml.1_Missense_Mutation_p.S573F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	573	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGTACTCCAGGAAGACCAACA	0.522000														16			15		0	0	0.002450	0	0
TSHR	7253	broad.mit.edu	37	14	81534600	81534601	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:81534600_81534601AC>TT	uc001xvd.1	+	2	401_402	c.245_246AC>TT	c.(244-246)tac>tTT	p.Y82F	TSHR_uc001xvb.1_Missense_Mutation_p.Y82F|TSHR_uc001xvc.3_Missense_Mutation_p.Y82F|TSHR_uc010tvs.2_Missense_Mutation_p.Y82F	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	82					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACATTCAGCTACGTATCTATAG	0.356000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							6			39		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9014700	9014700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	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														18			17		0	0	0.001882	0	0
OPRK1	4986	broad.mit.edu	37	8	54142099	54142099	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:54142099T>A	uc003xrh.1	-	2	1276	c.901A>T	c.(901-903)Agc>Tgc	p.S301C	OPRK1_uc022aup.1_Missense_Mutation_p.S181C|OPRK1_uc003xri.1_Missense_Mutation_p.S301C|OPRK1_uc010lyc.1_Missense_Mutation_p.S212C	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	301					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGGAGGTGCTCCCCAGAGCC	0.542000														31			10		0	0	0.001368	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641834	129641834	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:129641834A>G	uc022bnn.1	+	0	144	c.144A>G	c.(142-144)gcA>gcG	p.A48A	ZBTB34_uc004bqm.4_Silent_p.A48A	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	48	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCACAAAGCAGTCCTTGCTG	0.498000														13			76		0	0	0.003610	0	0
CHST6	4166	broad.mit.edu	37	16	75513312	75513312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:75513312G>A	uc021tlj.1	-	0	415	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	CHST6_uc002fef.3_Missense_Mutation_p.P139S|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.P139S	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	139					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCGCCTCGGGGAAAGGCACTG	0.682000														32			13		0	0	0.003163	0	0
MAPK4	5596	broad.mit.edu	37	18	48252394	48252394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:48252394G>A	uc002lev.3	+	4	1916	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	MAPK4_uc010xdm.2_Missense_Mutation_p.G95R|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	306	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCTGAGATGGGGCTGCAACA	0.552000														31			25		0	0	0.001061	0	0
PCDH15	65217	broad.mit.edu	37	10	55566490	55566490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55566490C>T	uc010qhq.2	-	34	5287	c.4892G>A	c.(4891-4893)aGg>aAg	p.R1631K	PCDH15_uc010qhr.2_Missense_Mutation_p.R1626K	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, 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.A1631V(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)				GCTTTTCAGCCTGTTCCTTAG	0.448000										HNSCC(58;0.16)				125			53		0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37478487	37478487	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37478487T>A	uc021ppc.1	+	25	2443	c.2344_splice	c.e25+2	p.E782_splice	ANKRD30A_uc001iza.1_Splice_Site_p.E782_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	838						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						AATTAGAAGGTAAGAACCGTT	0.323000														74			36		0	0	0.001287	0	0
BRD2	6046	broad.mit.edu	37	6	32944138	32944138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32944138C>T	uc010juh.3	+	4	2026	c.722C>T	c.(721-723)cCc>cTc	p.P241L	BRD2_uc003ocn.4_Missense_Mutation_p.P241L|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.P121L|BRD2_uc003ocq.4_Missense_Mutation_p.P241L|BRD2_uc021ywf.1_Missense_Mutation_p.P194L	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	241					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTCAACATTCCCCACCCATCA	0.567000														31			20		0	0	0.001882	0	0
CBLC	23624	broad.mit.edu	37	19	45281354	45281354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45281354C>T	uc002ozs.3	+	0	229	c.166C>T	c.(166-168)Cga>Tga	p.R56*	CBLC_uc010ejt.3_Nonsense_Mutation_p.R56*	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	56	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCAGCTGCTTCGAGAGGTGGC	0.701000			M		AML									55			53		0	0	0.003610	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039520	55039520	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:55039520G>A	uc003pcl.3	+	0	450	c.135G>A	c.(133-135)agG>agA	p.R45R	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	45					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACCTGTGGAGGGAATACCTGC	0.537000														35			24		0	0	0.002299	0	0
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:8995939G>A	uc002czl.2	-	18	2246	c.2047_splice	c.e18+1	p.H683_splice	USP7_uc010uyk.1_Splice_Site_p.H584_splice|USP7_uc010uyj.1_Splice_Site_p.H584_splice|USP7_uc002czk.2_Splice_Site_p.H667_splice|USP7_uc010uyl.1_Splice_Site	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	683	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483000														37			23		0	0	0.002780	0	0
ARAP2	116984	broad.mit.edu	37	4	36160466	36160466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:36160466G>A	uc003gsq.2	-	14	2976	c.2638C>T	c.(2638-2640)Cat>Tat	p.H880Y		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	880	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCCTCGGAATGAATATCATGT	0.333000														30			16		0	0	0.000743	0	0
XIST	7503	broad.mit.edu	37	X	73063783	73063783	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73063783C>T	uc004ebm.1	-	0		c.8806G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTTGATAGTCCACCAGAAGGG	0.408000														2			19		0	0	0.000743	0	0
GABPB2	126626	broad.mit.edu	37	1	151062912	151062912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:151062912C>T	uc001ewr.2	+	2	470	c.139C>T	c.(139-141)Caa>Taa	p.Q47*	GABPB2_uc010pcp.1_Nonsense_Mutation_p.Q63*|GABPB2_uc001ewt.2_5'Flank	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	47					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CCTTGCAGCTCAATATGGTCA	0.488000														23			26		0	0	0.003330	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565207	20565207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20565207C>T	uc002dhj.4	-	5	842	c.632G>A	c.(631-633)gGa>gAa	p.G211E	ACSM2B_uc002dhk.4_Missense_Mutation_p.G211E|ACSM2B_uc010bwf.1_Missense_Mutation_p.G211E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	211					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTCCTGGCTTCCAGTCTCCAC	0.507000														40			31		0	0	0.004289	0	0
IL5RA	3568	broad.mit.edu	37	3	3146671	3146671	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:3146671C>T	uc011ask.2	-	4	642	c.-2_splice	c.e4-1		IL5RA_uc010hbq.3_Splice_Site|IL5RA_uc010hbr.3_Splice_Site|IL5RA_uc010hbs.3_Splice_Site|IL5RA_uc011asl.2_Splice_Site|IL5RA_uc011asm.1_Splice_Site|IL5RA_uc010hbt.2_Splice_Site|IL5RA_uc011asn.1_Splice_Site|IL5RA_uc010hbu.2_Splice_Site	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.						cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATGATCATATCCTACAGAAAA	0.383000														31			27		0	0	0.001512	0	0
CAPN13	92291	broad.mit.edu	37	2	30966426	30966426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:30966426G>A	uc021vfn.1	-	11	1300	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.P419L|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	423					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)					AAACACGGGTGGAAATTTCTC	0.473000														30			34		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179576946	179576947	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179576946_179576947GG>AA	uc021vsy.1	-	92	24103_24104	c.23878_23879CC>TT	c.(23878-23880)cca>TTa	p.P7960L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4621L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8887	Ig-like 62.						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)			AAAATACGGTGGTTCTGCAGCC	0.441000														40			45		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13729617	13729617	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13729617G>A	uc003jfd.2	-	68	11856	c.11814C>T	c.(11812-11814)atC>atT	p.I3938I	DNAH5_uc003jfc.2_Silent_p.I106I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3938					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W3937*(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATGTCCAGGATCCATTTTG	0.368000									Kartagener syndrome					52			35		0	0	0.004878	0	0
FYB	2533	broad.mit.edu	37	5	39119071	39119071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:39119071C>T	uc003jls.3	-	13	2235	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	FYB_uc003jlt.3_Missense_Mutation_p.G769E|FYB_uc003jlu.3_Missense_Mutation_p.G723E|FYB_uc011cpl.2_Missense_Mutation_p.G779E	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	723					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCTCTGGTTCCCCACTTTTT	0.323000														32			15		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179456617	179456617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179456617G>A	uc021vsy.1	-	251	52450	c.52225C>T	c.(52225-52227)Ccc>Tcc	p.P17409S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P11104S|TTN_uc021vta.1_Missense_Mutation_p.P11037S|TTN_uc021vtb.1_Missense_Mutation_p.P10912S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18336	Fibronectin type-III 26.						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)			GGCCCTGGGGGATCTTTTCAA	0.423000														35			19		0	0	0.001216	0	0
FRMD3	257019	broad.mit.edu	37	9	85905579	85905579	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:85905579T>C	uc004ams.2	-	12	1336	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	FRMD3_uc004amr.1_Silent_p.E378E|FRMD3_uc022bja.1_Silent_p.E334E|FRMD3_uc022biz.1_Silent_p.E184E	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	378						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCTGCAGGGGTTCCATGTTAA	0.517000														8			72		0	0	0.003610	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697010	156697010	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156697010G>A	uc001fps.1	-	0	696	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ISG20L2_uc001fpt.1_Silent_p.S145S|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	145					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTTTTAGAGGATTTCTTCT	0.493000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			98		0	0	0.003610	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033510	45033510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45033510C>T	uc010ejn.1	-	0	39	c.23G>A	c.(22-24)gGa>gAa	p.G8E	CEACAM20_uc010ejo.1_Missense_Mutation_p.G8E|CEACAM20_uc010ejp.1_Missense_Mutation_p.G8E|CEACAM20_uc010ejq.1_Missense_Mutation_p.G8E	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	8						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CCAGTGGTGTCCCCATGAGTC	0.592000														127			88		0	0	0.003610	0	0
SCAMP5	192683	broad.mit.edu	37	15	75311250	75311250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75311250G>A	uc002azn.2	+	6	845	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	SCAMP5_uc002azl.2_Missense_Mutation_p.A212T|SCAMP5_uc002azm.2_Missense_Mutation_p.A212T|SCAMP5_uc002azk.2_Missense_Mutation_p.A212T|SCAMP5_uc010uly.2_Missense_Mutation_p.A141T	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	212					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CATGGGGGCAGCCCAGGGTGC	0.587000														17			23		0	0	0.002780	0	0
C11orf30	56946	broad.mit.edu	37	11	76207326	76207326	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:76207326C>T	uc001oxl.3	+	8	1319	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	C11orf30_uc009yuj.1_Silent_p.A407A|C11orf30_uc010rsa.1_Silent_p.A342A|C11orf30_uc001oxm.3_Intron|C11orf30_uc010rsb.2_Silent_p.A407A|C11orf30_uc010rsc.2_Silent_p.A407A|C11orf30_uc001oxn.3_Silent_p.A393A|C11orf30_uc010rsd.2_Silent_p.A406A	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	392	Interaction with BRCA2.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TAGTGAGTGCCCCAACTCAGA	0.448000														31			31		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179547523	179547523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179547523C>T	uc021vsy.1	-	131	29488	c.29263G>A	c.(29263-29265)Gaa>Aaa	p.E9755K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6416K|TTN_uc010fre.1_Missense_Mutation_p.E602K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10682	Ig-like 78.						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)			TCCTCAAATTCTTTATAATCA	0.363000														87			64		0	0	0.003610	0	0
TCRB	0	broad.mit.edu	37	7	142099924	142099924	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142099924G>A	uc003vyz.1	-	0	15	c.15C>T	c.(13-15)ctC>ctT	p.L5L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Intron					SubName: Full=Uncharacterized protein;																		CCCAGCAGAGGAGCCTGGTGC	0.537000														49			62		0	0	0.003610	0	0
RAVER2	55225	broad.mit.edu	37	1	65272917	65272917	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:65272917G>A	uc001dbt.2	+	6	1124	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	RAVER2_uc001dbs.2_Silent_p.T467T|RAVER2_uc010opb.2_Intron	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	480						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCAAACAACGATAACAGCTG	0.403000														31			20		0	0	0.002780	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871984	51871984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:51871984G>A	uc002xwo.3	+	1	2874	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	TSHZ2_uc021wex.1_Missense_Mutation_p.E660K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	663					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGGGCAGCGAGAAGGAGAA	0.597000														45			9		0	0	0.000443	0	0
GPR98	84059	broad.mit.edu	37	5	90136578	90136578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90136578C>T	uc003kju.3	+	77	16891	c.16795C>T	c.(16795-16797)Ctt>Ttt	p.L5599F	GPR98_uc003kjt.3_Missense_Mutation_p.L3305F|GPR98_uc003kjw.3_Missense_Mutation_p.L1260F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5599					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)		CCAGATTGTCCTTTTTGACCC	0.458000														27			50		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108117583	108117583	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108117583C>T	uc003dxa.1	-	35	5151	c.5094G>A	c.(5092-5094)gaG>gaA	p.E1698E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1698						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						ACCTTAGATCCTCTAGTTCAG	0.512000														105			73		0	0	0.003610	0	0
SGK3	23678	broad.mit.edu	37	8	67759428	67759428	+	Splice_Site	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:67759428C>G	uc003xwp.3	+	17	1706	c.1075_splice	c.e17-1	p.P359_splice	SGK3_uc003xwr.3_Splice_Site_p.P359_splice|SGK3_uc003xwt.3_Splice_Site_p.P359_splice|SGK3_uc003xwu.3_Splice_Site_p.P327_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	359	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTTTTCCAGCCTCCTTTTTA	0.383000														88			16		0	0	0.001216	0	0
LOC646813	646813	broad.mit.edu	37	11	50375320	50375320	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:50375320C>T	uc001nhe.2	+	2		c.211C>T			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		ACTATTGATACCAACATGTTC	0.373000														33			18		0	0	0.000743	0	0
PON1	5444	broad.mit.edu	37	7	94946066	94946066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94946066C>T	uc003uns.3	-	2	278	c.181G>A	c.(181-183)Gga>Aga	p.G61R	PON1_uc011kih.2_Missense_Mutation_p.G61R	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	61					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AAAGCCAGTCCATTAGGCAGT	0.403000														130			51		0	0	0.003610	0	0
OR5D16	390144	broad.mit.edu	37	11	55606540	55606540	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55606540T>A	uc010rio.2	+	0	313	c.313T>A	c.(313-315)Ttc>Atc	p.F105I		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	105					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)				GCAATTCTTTTTCTTTTGCAC	0.423000														94			60		0	0	0.003610	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921430	25921430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:25921430G>A	uc011dkb.2	-	2	534	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SLC17A2_uc011dkc.2_Missense_Mutation_p.R151W|SLC17A2_uc003nfl.3_Missense_Mutation_p.R151W			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	151					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGGACTGTCCGAACCATGATG	0.438000														45			22		0	0	0.003330	0	0
GPR152	390212	broad.mit.edu	37	11	67220040	67220040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:67220040C>T	uc001olm.3	-	0	161	c.156G>A	c.(154-156)tgG>tgA	p.W52*	CABP4_uc009yrw.1_Non-coding_Transcript|CABP4_uc001oln.3_5'UTR|CABP4_uc001olo.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	52						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCGGCCAGCCACGCCATCA	0.662000														7			5		0	0	0.000602	0	0
NMUR2	56923	broad.mit.edu	37	5	151777638	151777638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:151777638G>A	uc003luv.2	-	1	960	c.794C>T	c.(793-795)tCa>tTa	p.S265L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	265					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGTTGACTGATTTTCTGCA	0.393000														9			22		0	0	0.002299	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48346606C>T	uc010rhv.2	+	0	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000														47			34		0	0	0.002836	0	0
SMTNL1	219537	broad.mit.edu	37	11	57317475	57317475	+	Missense_Mutation	SNP	G	A	A	rs34201154		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57317475G>A	uc021qjh.1	+	6	1377	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	459										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCTGGACGTGGATGACATGGT	0.547000														28			15		0	0	0.002450	0	0
FLT4	2324	broad.mit.edu	37	5	180056296	180056296	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180056296G>A	uc003mlz.4	-	6	1027	c.948C>T	c.(946-948)atC>atT	p.I316I	FLT4_uc003mma.4_Silent_p.I316I|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.I316I|FLT4_uc011dgz.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	316	Ig-like C2-type 3.				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)	GAAATCGCTGGATGCCGTTGT	0.617000														3			14		0	0	0.003163	0	0
SNX20	124460	broad.mit.edu	37	16	50707519	50707519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50707519C>T	uc002egk.2	-	3	922	c.749G>A	c.(748-750)gGa>gAa	p.G250E	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	250					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCCTCTCTCCGGCCGCGAA	0.751000														10			4		0	0	0.000602	0	0
TARBP1	6894	broad.mit.edu	37	1	234569190	234569190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:234569190G>A	uc001hwd.3	-	13	2360	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	787					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGCTGAATGGATGCATTTTT	0.388000														29			36		0	0	0.005524	0	0
EMB	133418	broad.mit.edu	37	5	49706728	49706728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:49706728C>T	uc003jom.3	-	3	704	c.455G>A	c.(454-456)gGa>gAa	p.G152E	EMB_uc003jol.3_Missense_Mutation_p.G83E|EMB_uc011cpy.2_Missense_Mutation_p.G102E	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	152	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATTAAATGTTCCCCTTTGTTC	0.279000														8			13		0	0	0.001855	0	0
MYOF	26509	broad.mit.edu	37	10	95129435	95129435	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95129435G>A	uc001kin.3	-	24	2679	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	MYOF_uc001kio.3_Silent_p.F839F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	852					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCCTTCTGCGAAGCTGTTAA	0.453000														29			14		0	0	0.000958	0	0
HOXD12	3238	broad.mit.edu	37	2	176965348	176965348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:176965348G>A	uc010zev.1	+	1	673	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	HOXD12_uc021vsp.1_3'UTR	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	225						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTCGTCAACGAATTCATCAA	0.552000														10			6		0	0	0.001168	0	0
GCM2	9247	broad.mit.edu	37	6	10877559	10877559	+	Missense_Mutation	SNP	C	T	T	rs11963186	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:10877559C>T	uc003mzn.4	-	1	229	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	53			D -> N (in dbSNP:rs11963186).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTCTTCTCATCGCTGCTGTAG	0.572000														16			12		0	0	0.001368	0	0
DEPDC5	9681	broad.mit.edu	37	22	32242923	32242923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32242923C>T	uc011alu.2	+	30	3327	c.3125C>T	c.(3124-3126)tCt>tTt	p.S1042F	DEPDC5_uc011als.2_Missense_Mutation_p.S964F|DEPDC5_uc003als.3_Missense_Mutation_p.S1033F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.S1033F|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.S482F|DEPDC5_uc011alw.1_Missense_Mutation_p.S363F|DEPDC5_uc003alw.3_Missense_Mutation_p.S331F|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_Missense_Mutation_p.S37F	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1033					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGCTCTCTCTGCCCTGTTG	0.572000														31			21		0	0	0.003954	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709480	128709480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128709480C>T	uc001qeo.1	-	1	767	c.716G>A	c.(715-717)gGa>gAa	p.G239E	KCNJ1_uc001qep.1_Missense_Mutation_p.G220E|KCNJ1_uc001qeq.1_Missense_Mutation_p.G220E|KCNJ1_uc001qer.1_Missense_Mutation_p.G220E|KCNJ1_uc001qes.1_Missense_Mutation_p.G220E|KCNJ1_uc021qsb.1_Missense_Mutation_p.G220E	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	239					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AATGGTCTCTCCTTCAGGAGT	0.408000														81			70		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179669288	179669288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179669288G>A	uc021vsy.1	-	1	307	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	TTN_uc021vsz.1_Missense_Mutation_p.H28Y|TTN_uc021vta.1_Missense_Mutation_p.H28Y|TTN_uc021vtb.1_Missense_Mutation_p.H28Y|TTN_uc002unb.2_Missense_Mutation_p.H28Y|TTN_uc002und.3_Missense_Mutation_p.H28Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28	Ig-like 1.						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)			CCACTAATGTGAGCCTCAAAG	0.458000														18			5		0	0	0.000602	0	0
ZNF187	7741	broad.mit.edu	37	6	28244585	28244585	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:28244585C>T	uc011dlc.2	+	4	1419	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	ZNF187_uc003nku.4_Silent_p.H249H|ZNF187_uc003nkw.4_Silent_p.H230H|ZNF187_uc011dle.2_Silent_p.H230H|ZNF187_uc011dlf.2_Silent_p.H175H|ZNF187_uc011dld.2_Silent_p.H382H|ZNF187_uc011dlg.2_Silent_p.H230H	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	383					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCCTCACCCACCATCAGAGAA	0.458000														29			23		0	0	0.004656	0	0
CCDC116	164592	broad.mit.edu	37	22	21989446	21989446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:21989446C>T	uc002zve.3	+	3	1187	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	CCDC116_uc011aih.1_Missense_Mutation_p.S365F	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	365										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCTATGCTTCCCCCCGCCCC	0.632000														17			8		0	0	0.000443	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766752	77766752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77766752C>T	uc003yau.2	+	9	7982	c.7595C>T	c.(7594-7596)cCc>cTc	p.P2532L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2487L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2487						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)			TTGGAAAGGCCCATGGACATG	0.527000										HNSCC(33;0.089)				101			37		0	0	0.001287	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102550183	102550183	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:102550183C>A	uc001yku.4	-	6	1475	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	HSP90AA1_uc001ykv.4_Nonsense_Mutation_p.E551*|HSP90AA1_uc001ykw.1_Nonsense_Mutation_p.E250*|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.E418*	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	429					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)	TCTTTATCTTCCGCCAGTTCA	0.328000														14			44		3.05275e-18	6.42818e-18	0.003214	1	0
TPO	7173	broad.mit.edu	37	2	1488383	1488383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1488383G>A	uc002qwr.3	+	8	1440	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.D452N|TPO_uc002qwx.3_Missense_Mutation_p.D452N|TPO_uc002qwu.3_Missense_Mutation_p.D452N|TPO_uc010yio.2_Missense_Mutation_p.D279N|TPO_uc010yip.2_Missense_Mutation_p.D452N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	452					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACCCTGAGGGATTACATCCC	0.577000														7			8		0	0	0.004482	0	0
ZNF142	7701	broad.mit.edu	37	2	219521062	219521062	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219521062G>T	uc002vin.3	-	3	527	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTTAGAGAGAGGCGGGGGG	0.622000														18			11		1.58986e-06	3.32543e-06	0.000673	1	0
ZNF324	25799	broad.mit.edu	37	19	58982657	58982657	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58982657C>T	uc002qsw.2	+	3	943	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAAGTGTTCGTGAAGAGCT	0.657000														13			12		0	0	0.004007	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128850476	128850476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128850476G>A	uc009zcp.3	-	16	1906	c.1906C>T	c.(1906-1908)Cat>Tat	p.H636Y	ARHGAP32_uc009zcq.2_Missense_Mutation_p.H596Y|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.H287Y	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	636					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATTATGGTATGAAATTTCCCC	0.373000														42			26		0	0	0.001061	0	0
TRPC7	57113	broad.mit.edu	37	5	135692968	135692968	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:135692968C>T	uc003lbn.2	-	1	330	c.108G>A	c.(106-108)aaG>aaA	p.K36K	TRPC7_uc010jef.2_Silent_p.K27K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.K36K|TRPC7_uc010jei.2_Silent_p.K36K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	36					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)			GACTGGTGCCCTTCTCGTTGA	0.612000														16			33		0	0	0.002836	0	0
CACNA1E	777	broad.mit.edu	37	1	181479682	181479682	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181479682T>A	uc009wxt.3	+	1	531	c.336T>A	c.(334-336)ctT>ctA	p.L112L	CACNA1E_uc001gow.3_Silent_p.L112L|CACNA1E_uc009wxs.3_Silent_p.L112L|CACNA1E_uc009wxr.3_Silent_p.L19L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	112					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						AGCAGCATCTTCCTGAGGATG	0.517000														19			9		0	0	0.000978	0	0
TRANK1	9881	broad.mit.edu	37	3	36875010	36875010	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36875010G>A	uc003cgj.3	-	20	6180	c.5932C>T	c.(5932-5934)Caa>Taa	p.Q1978*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1978					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGGCCAGTTTGATAGCAGATA	0.537000														15			9		0	0	0.000978	0	0
ZNF404	342908	broad.mit.edu	37	19	44378014	44378014	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44378014G>T	uc002oxs.4	-	1	343	c.343C>A	c.(343-345)Ctt>Att	p.L115I		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	118					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)				TGTAGAGGAAGGGATTTATGT	0.338000														209			8		0.00307968	0.00640016	0.003080	1	0
TTN	7273	broad.mit.edu	37	2	179463480	179463480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179463480G>A	uc021vsy.1	-	239	49478	c.49253C>T	c.(49252-49254)cCa>cTa	p.P16418L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10113L|TTN_uc021vta.1_Missense_Mutation_p.P10046L|TTN_uc021vtb.1_Missense_Mutation_p.P9921L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17345	Ig-like 100.						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)			CTTACCAATTGGATCTCTAGC	0.438000														112			64		0	0	0.003610	0	0
PIPSL	266971	broad.mit.edu	37	10	95719245	95719245	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95719245T>A	uc009xuj.2	-	0	2428	c.1909A>T	c.(1909-1911)Aag>Tag	p.K637*						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GCTGTCAGCTTTTCTGTGTTC	0.458000														22			14		0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38892168	38892168	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38892168G>A	uc021wvy.1	-	24	4330	c.4131C>T	c.(4129-4131)atC>atT	p.I1377I	SCN11A_uc003cis.1_Silent_p.I42I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1377					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)	TCATGTTTAGGATAATGAGAC	0.378000														45			37		0	0	0.005524	0	0
PPT1	5538	broad.mit.edu	37	1	40557021	40557021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40557021G>A	uc001cfb.2	-	3	645	c.413C>T	c.(412-414)tCg>tTg	p.S138L	PPT1_uc010ojf.1_Missense_Mutation_p.S88L|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	138					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCCCAACCGAGATCAGATT	0.428000														13			18		0	0	0.001882	0	0
LMLN	89782	broad.mit.edu	37	3	197765453	197765453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:197765453C>T	uc010iar.3	+	16	2016	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	LMLN_uc003fyt.3_Missense_Mutation_p.S613F|LMLN_uc011buo.2_Missense_Mutation_p.S628F|LMLN_uc010ias.3_Missense_Mutation_p.S576F|LMLN_uc003fyu.3_Missense_Mutation_p.S425F	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	628					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TGTTCCTGTTCCTCGAGCCTG	0.403000														125			69		0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152771814	152771814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152771814C>T	uc021zhb.1	-	24	3564	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_uc003qot.4_Missense_Mutation_p.S1121N|SYNE1_uc003qou.4_Missense_Mutation_p.S1114N|SYNE1_uc010kjb.1_Missense_Mutation_p.S1097N|SYNE1_uc003qow.3_Missense_Mutation_p.S409N|SYNE1_uc003qox.1_Missense_Mutation_p.S630N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1114					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGTAGGTGCTGTCAATGGC	0.522000										HNSCC(10;0.0054)				81			67		0	0	0.003610	0	0
DEPDC1	55635	broad.mit.edu	37	1	68944952	68944952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:68944952G>A	uc001dem.4	-	9	2104	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	DEPDC1_uc001dej.4_Missense_Mutation_p.L31F|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.L379F	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	663					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.L663F(1)|p.L379F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AGCTCATCAAGATCCACTTCT	0.348000														23			25		0	0	0.003330	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420401	110420401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110420401C>T	uc003yne.3	+	17	2041	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	646					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)			GGGATCGCTTCTAAGCCACTC	0.443000										HNSCC(38;0.096)				43			24		0	0	0.003954	0	0
SST	6750	broad.mit.edu	37	3	187386908	187386908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:187386908C>T	uc003frn.3	-	1	418	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	99					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.P98P(1)|p.R99R(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TTTGCGTTCTCGGGGTGCCAT	0.502000														99			71		0	0	0.003610	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789889	6789889	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6789889C>T	uc001meq.1	-	0	300	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGGAACATCTGAAGTGCAC	0.512000														44			26		0	0	0.001271	0	0
TCTE1	202500	broad.mit.edu	37	6	44250169	44250169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44250169C>T	uc003oxi.2	-	3	1130	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	325										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCAGCACCTCGTGCACCACG	0.597000														42			20		0	0	0.001216	0	0
OR13C9	286362	broad.mit.edu	37	9	107380206	107380206	+	Missense_Mutation	SNP	A	G	G	rs76976154		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:107380206A>G	uc011lvr.2	-	0	280	c.280T>C	c.(280-282)Ttt>Ctt	p.F94L		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CAGCCAGAAAAGGAAATGGTC	0.507000														97			8		0	0	0.003163	0	0
ALLC	55821	broad.mit.edu	37	2	3750152	3750152	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:3750152A>T	uc010ewt.3	+	11	1336	c.1175A>T	c.(1174-1176)tAa>tTa	p.*392L	ALLC_uc002qyf.3_Nonstop_Mutation_p.*163L	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	0							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCAAACCCTTAACACACACAA	0.522000										HNSCC(21;0.051)				9			13		0	0	0.004007	0	0
TULP1	7287	broad.mit.edu	37	6	35467883	35467883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35467883C>T	uc003okv.4	-	13	1382	c.1370G>A	c.(1369-1371)aGc>aAc	p.S457N	TULP1_uc003okw.4_Missense_Mutation_p.S404N	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	457					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCTATGAGGCTCTCCAGCGT	0.587000														45			22		0	0	0.002780	0	0
CMYA5	202333	broad.mit.edu	37	5	79025195	79025195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79025195C>T	uc003kgc.3	+	1	679	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	203						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)		AAATACACCTCCGATTACTGG	0.353000														16			29		0	0	0.001271	0	0
CNTN5	53942	broad.mit.edu	37	11	100126511	100126511	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100126511G>A	uc001pga.3	+	16	2529	c.2025G>A	c.(2023-2025)ggG>ggA	p.G675G	CNTN5_uc001pfz.3_Silent_p.G675G|CNTN5_uc021qpb.1_Silent_p.G675G|CNTN5_uc021qpc.1_Silent_p.G601G|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	675	Fibronectin type-III 1.				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)		GCCCACCTGGGATAGTAATTG	0.458000														41			28		0	0	0.002836	0	0
TRANK1	9881	broad.mit.edu	37	3	36872703	36872703	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36872703C>A	uc003cgj.3	-	20	8487	c.8239G>T	c.(8239-8241)Gag>Tag	p.E2747*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2747					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGCCCCCTCAAACGCTTTG	0.547000														29			25		2.21704e-12	4.65609e-12	0.002780	1	0
OR6C4	341418	broad.mit.edu	37	12	55945720	55945721	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55945720_55945721CC>TT	uc010spp.2	+	0	710_711	c.710_711CC>TT	c.(709-711)tcc>tTT	p.S237F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAGGCCTTTTCCACTTGTTCCT	0.441000														46			21		0	0	0.004672	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212488	26212488	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:26212488G>A	uc022buc.1	+	0	525	c.525G>A	c.(523-525)gaG>gaA	p.E175E	MAGEB6_uc004dbr.3_Silent_p.E175E	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	175										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGAAGATGAGGAAAGTGTAA	0.507000														4			21		0	0	0.001882	0	0
BCL6B	255877	broad.mit.edu	37	17	6930093	6930093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:6930093G>A	uc010clt.1	+	6	1186	c.1124G>A	c.(1123-1125)aGc>aAc	p.S375N	BCL6B_uc002geg.2_Missense_Mutation_p.S375N	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	375						nucleus	zinc ion binding			skin(1)	1						AAAACGCACAGCCGCATCCAT	0.567000														9			49		0	0	0.003610	0	0
FAM47C	442444	broad.mit.edu	37	X	37029030	37029030	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:37029030G>A	uc004ddl.2	+	0	2599	c.2547G>A	c.(2545-2547)tcG>tcA	p.S849S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	849										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACACACATCGAGAAAACTCC	0.468000														6			35		0	0	0.001485	0	0
CCDC73	493860	broad.mit.edu	37	11	32781685	32781685	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:32781685C>T	uc001mtv.3	-	1	149	c.105G>A	c.(103-105)ctG>ctA	p.L35L	CCDC73_uc001mtw.1_Silent_p.L35L|CCDC73_uc009yjt.3_Silent_p.L35L	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	35										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTAATGCCTCCAGTAAACTTG	0.294000														134			67		0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	94120377	94120377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:94120377G>A	uc003poe.3	-	2	915	c.674C>T	c.(673-675)tCc>tTc	p.S225F	EPHA7_uc003pof.3_Missense_Mutation_p.S225F|EPHA7_uc011eac.2_Missense_Mutation_p.S225F|EPHA7_uc003pog.4_Missense_Mutation_p.S225F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	225	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACTAAAGAGGAAAATTCTGA	0.463000														40			15		0	0	0.003163	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414672	105414672	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105414672G>A	uc010axc.1	-	6	7236	c.7116C>T	c.(7114-7116)tcC>tcT	p.S2372S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S2272S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2372						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)			CCAGGTCAGCGGAAGGGGGCT	0.657000														18			80		0	0	0.003610	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301818	120301818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120301818G>A	uc001eid.3	-	3	861	c.773C>T	c.(772-774)tCc>tTc	p.S258F	HMGCS2_uc010oxj.2_Missense_Mutation_p.S216F|HMGCS2_uc021osw.1_Missense_Mutation_p.S24F|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	258					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GCACTGGATGGAAAGCTTCCC	0.468000														257			180		0	0	0.003610	0	0
RGS21	431704	broad.mit.edu	37	1	192335174	192335174	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:192335174T>A	uc001gsh.3	+	4	553	c.379T>A	c.(379-381)Ttt>Att	p.F127I		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	127	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTCCCTCGATTTCTGAAGTC	0.358000														63			34		0	0	0.003755	0	0
SORCS3	22986	broad.mit.edu	37	10	106974277	106974277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106974277G>A	uc001kyi.1	+	17	2680	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	818						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGTGCCCTGGAAAAGCCCCT	0.552000														22			15		0	0	0.004007	0	0
ABCA2	20	broad.mit.edu	37	9	139911795	139911795	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:139911795G>A	uc004ckm.1	-	17	2543	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ABCA2_uc022bpy.1_Silent_p.F732F|ABCA2_uc022bpz.1_Silent_p.F802F|ABCA2_uc011mem.1_Silent_p.F801F|ABCA2_uc004ckl.1_Silent_p.F732F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	801					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGACACCAGGAAGCTGGGTG	0.672000														4			21		0	0	0.002299	0	0
MAP2	4133	broad.mit.edu	37	2	210570450	210570450	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:210570450C>T	uc002vde.1	+	11	4980	c.4732_splice	c.e11+1	p.R1578_splice	MAP2_uc002vdd.1_Splice_Site_p.R279_splice|MAP2_uc002vdf.1_Splice_Site_p.R222_splice|MAP2_uc002vdg.1_Splice_Site_p.R222_splice|MAP2_uc002vdh.1_Splice_Site_p.R279_splice|MAP2_uc002vdi.1_Splice_Site_p.R1574_splice	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1578					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCGGACCACCAGTAGGTTTA	0.368000														78			57		0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862887	9862887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9862887C>T	uc010uym.2	-	12	2726	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	GRIN2A_uc002czo.4_Missense_Mutation_p.E806K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E649K|GRIN2A_uc002czr.4_Missense_Mutation_p.E806K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	806					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.N805N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCATCACCTCGTTCTTCTCG	0.562000														37			24		0	0	0.001512	0	0
LIPH	200879	broad.mit.edu	37	3	185234906	185234906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:185234906G>A	uc003fpm.3	-	6	1041	c.931C>T	c.(931-933)Cct>Tct	p.P311S	LIPH_uc010hyh.3_Missense_Mutation_p.P277S	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	311					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTCATTGGAGGATCTTTCCCC	0.383000														240			172		0	0	0.003610	0	0
AGGF1	55109	broad.mit.edu	37	5	76357579	76357579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:76357579G>A	uc003ket.3	+	12	2278	c.1896G>A	c.(1894-1896)tgG>tgA	p.W632*		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	632	G-patch.				RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGATGGGTTGGAAGAAAGGAG	0.378000														78			157		0	0	0.003610	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660589	57660589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57660589G>A	uc009zpm.1	-	16	2049	c.2014C>T	c.(2014-2016)Cct>Tct	p.P672S	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.P367S|R3HDM2_uc001snr.2_Missense_Mutation_p.P399S|R3HDM2_uc001sns.2_Missense_Mutation_p.P672S|R3HDM2_uc001snt.2_Missense_Mutation_p.P686S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	672	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCAGAGCCAGGGGGTTGCAGA	0.552000														17			8		0	0	0.000673	0	0
C20orf195	79025	broad.mit.edu	37	20	62187726	62187726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62187726C>T	uc002yfj.3	+	1	802	c.710C>T	c.(709-711)tCg>tTg	p.S237L	C20orf195_uc021wgc.1_Missense_Mutation_p.S237L	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	237								p.S237*(2)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCAGCCACATCGGAGCAGTAT	0.652000														123			51		0	0	0.003610	0	0
AFM	173	broad.mit.edu	37	4	74354393	74354393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74354393G>A	uc003hhb.3	+	6	791	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	254	Albumin 2.				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)			TGAATTTAAGGAGCTTATTTC	0.363000														48			25		0	0	0.004656	0	0
PINK1	65018	broad.mit.edu	37	1	20972134	20972134	+	Silent	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:20972134G>T	uc001bdm.3	+	4	1135	c.1041G>T	c.(1039-1041)ctG>ctT	p.L347L	PINK1_uc001bdn.3_Silent_p.L40L	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	347	Protein kinase.		L -> P (in PARK6; strongly reduces interaction with PARK2).		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCAGCTGCTGGAAGGCGTGG	0.617000														15			21		1.40151e-16	2.94876e-16	0.001523	1	0
TMEM174	134288	broad.mit.edu	37	5	72469265	72469265	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:72469265C>T	uc010izc.3	+	0	243	c.195C>T	c.(193-195)gtC>gtT	p.V65V		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	65						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		ACCAAGGTGTCTCCCACTTTG	0.537000														11			31		0	0	0.001512	0	0
TRANK1	9881	broad.mit.edu	37	3	36884166	36884166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36884166G>A	uc003cgj.3	-	16	5343	c.5095C>T	c.(5095-5097)Cct>Tct	p.P1699S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1699					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTCCGCAGGAGTTGAGGTC	0.468000														23			14		0	0	0.001855	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48599400	48599400	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48599400G>A	uc010wmr.2	+	9	1506	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	411					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTTCTGTGGGAAGCCAGCTT	0.532000														8			78		0	0	0.003610	0	0
TMEM217	221468	broad.mit.edu	37	6	37186744	37186744	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:37186744G>A	uc003onl.3	-	1	144	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TMEM217_uc010jwr.3_Silent_p.F21F|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Silent_p.F21F	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	21						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						CCATGATGGTGAAGACCCCTG	0.498000														72			33		0	0	0.002445	0	0
HTR1F	3355	broad.mit.edu	37	3	88040444	88040444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:88040444C>T	uc003dqr.2	+	1	703	c.545C>T	c.(544-546)aCc>aTc	p.T182I	HTR1F_uc021xbd.1_Missense_Mutation_p.T182I	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	182					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATTGTTTCCACCATTTACTCA	0.383000														35			26		0	0	0.001271	0	0
LRP1B	53353	broad.mit.edu	37	2	141260580	141260580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141260580G>A	uc002tvj.1	-	53	9586	c.8614C>T	c.(8614-8616)Cct>Tct	p.P2872S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2872	LDL-receptor class A 19.				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)		GAATGGTCAGGACAGTCAAAG	0.398000										TSP Lung(27;0.18)				37			25		0	0	0.001061	0	0
PRB2	653247	broad.mit.edu	37	12	11546698	11546698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546698C>T	uc010shk.1	-	2	349	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACTTGTCTCCTTGTGGGGG	0.607000														231			92		0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124389355	124389355	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124389355G>A	uc001lgk.1	+	44	5388	c.5282_splice	c.e44-1	p.R1761_splice	DMBT1_uc001lgl.1_Splice_Site_p.R1751_splice|DMBT1_uc001lgm.1_Splice_Site_p.R1133_splice|DMBT1_uc021qaf.1_Splice_Site_p.R1761_splice|DMBT1_uc021qag.1_Splice_Site_p.R1751_splice|DMBT1_uc021qah.1_Splice_Site_p.R1133_splice|DMBT1_uc009xzz.1_Splice_Site_p.R1761_splice|DMBT1_uc010qtx.1_Splice_Site_p.R481_splice|DMBT1_uc009yab.1_Splice_Site_p.R464_splice|DMBT1_uc009yac.1_Splice_Site_p.G55_splice	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1761					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)				CTCCTCTCTAGGACCCTCTTC	0.458000														79			41		0	0	0.003610	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635690	141635690	+	Missense_Mutation	SNP	G	A	A	rs117965702	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141635690G>A	uc003vwv.1	-	4	466	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CLEC5A_uc011krm.1_Missense_Mutation_p.S67L|CLEC5A_uc003vww.1_Missense_Mutation_p.S90L|CLEC5A_uc010lnq.1_Missense_Mutation_p.S67L|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	90	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATTCCAAGATGATTCAGAAGT	0.423000														60			33		0	0	0.001786	0	0
COL14A1	7373	broad.mit.edu	37	8	121174684	121174684	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121174684G>A	uc003yox.3	+	3	490	c.225G>A	c.(223-225)ctG>ctA	p.L75L		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	75	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTAACCAGCTGAATCTGCAGA	0.313000														47			52		0	0	0.003610	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:78064472G>A	uc002ffh.4	+	2	409	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CLEC3A_uc021tlr.1_Missense_Mutation_p.E58K	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	110	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.E110*(2)|p.E110Q(2)|p.D109G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478000														25			22		0	0	0.002780	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377233	138377233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138377233C>T	uc022bpi.1	+	0	877	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	PPP1R26_uc004cfr.1_Missense_Mutation_p.P293S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	293						nucleolus	protein binding										CCGCAAACCTCCCCGGTTAGC	0.617000														16			76		0	0	0.003610	0	0
WDR33	55339	broad.mit.edu	37	2	128525862	128525862	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128525862G>A	uc002tpg.2	-	3	478	c.279C>T	c.(277-279)gtC>gtT	p.V93V	WDR33_uc002tph.2_Silent_p.V93V|WDR33_uc002tpi.2_Silent_p.V93V	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	93					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTATAGGTGGGACCAGCTACA	0.358000														3			6		0	0	0.001168	0	0
MYCBP2	23077	broad.mit.edu	37	13	77656067	77656067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:77656067G>A	uc021rks.1	-	63	11365	c.11098C>T	c.(11098-11100)Cat>Tat	p.H3700Y	MYCBP2_uc010aev.3_Missense_Mutation_p.H3066Y|MYCBP2_uc001vke.3_Missense_Mutation_p.H282Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3662	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTAATGTGATGAAAGACGTTG	0.373000														9			34		0	0	0.002445	0	0
FSHR	2492	broad.mit.edu	37	2	49190868	49190868	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:49190868G>A	uc002rww.3	-	9	1202	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	FSHR_uc010fbn.3_Silent_p.I338I|FSHR_uc002rwx.3_Silent_p.I302I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	364					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGACTCTGAGGATGTTGTACC	0.458000									Gonadal Dysgenesis, 46 XX					41			23		0	0	0.001882	0	0
WASF3	10810	broad.mit.edu	37	13	27259953	27259953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:27259953G>A	uc001uqv.3	+	9	1705	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	WASF3_uc001uqw.3_Missense_Mutation_p.E491K	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	494					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGACGACTCAGAGTTCGACGA	0.607000														4			19		0	0	0.001882	0	0
LRP6	4040	broad.mit.edu	37	12	12274158	12274159	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12274158_12274159CC>AA	uc001rah.4	-	22	4885_4886	c.4743_4744GG>TT	c.(4741-4746)gaggag>gaTTag	p.1581_1582EE>D*	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.1536_1537EE>D*	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1581					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCATAGTTCTCCTCTGCTGACA	0.545000														501			13		0	0	0.004672	0	0
FUT6	2528	broad.mit.edu	37	19	5831614	5831614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5831614C>T	uc002mdf.1	-	3	1491	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	FUT6_uc021unl.1_Missense_Mutation_p.R322Q|FUT6_uc002mdg.1_Missense_Mutation_p.R322Q|FUT6_uc002mdh.1_Missense_Mutation_p.R322Q|FUT6_uc021unm.1_Missense_Mutation_p.R322Q	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	322					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCGTCTCCCGCCAGCGAAA	0.632000														29			20		0	0	0.003954	0	0
NLRP8	126205	broad.mit.edu	37	19	56459354	56459354	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56459354T>A	uc002qmh.3	+	0	157	c.86T>A	c.(85-87)tTc>tAc	p.F29Y	NLRP8_uc010etg.3_Missense_Mutation_p.F29Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	29						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCTGGACATTCTCTTGCTAC	0.512000														37			23		0	0	0.002299	0	0
TRIM11	81559	broad.mit.edu	37	1	228582509	228582509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:228582509G>A	uc001hss.3	-	5	1559	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	TRIM11_uc010pvx.2_Missense_Mutation_p.S434L	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	435	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CAGCGTCCCCGAGAAGGGGAT	0.627000														17			7		0	0	0.001984	0	0
RPL3L	6123	broad.mit.edu	37	16	2000917	2000917	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2000917T>A	uc002cnh.3	-	3	476	c.429A>T	c.(427-429)aaA>aaT	p.K143N	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GTAGCTGCTTTTTCCCGTCTG	0.587000														32			31		0	0	0.004878	0	0
FBXL13	222235	broad.mit.edu	37	7	102604101	102604101	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:102604101G>A	uc003vaq.2	-	7	1030	c.603C>T	c.(601-603)tcC>tcT	p.S201S	FBXL13_uc010liq.1_Silent_p.S16S|FBXL13_uc010lir.1_Silent_p.S201S|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.S201S|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	201										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTTCACTGAGGAAAAATCAA	0.323000														75			24		0	0	0.003954	0	0
VIP	7432	broad.mit.edu	37	6	153073395	153073395	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:153073395T>C	uc003qpe.3	+	1	255	c.83T>C	c.(82-84)cTt>cCt	p.L28P	VIP_uc003qpf.3_Missense_Mutation_p.L28P|VIP_uc010kjd.3_Missense_Mutation_p.L28P	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	28					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GCATGGCCTCTTTACAGGGCA	0.453000														34			20		0	0	0.003954	0	0
PRIC285	85441	broad.mit.edu	37	20	62196571	62196571	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62196571G>A	uc002yfm.2	-	8	4496	c.3604C>T	c.(3604-3606)Ctg>Ttg	p.L1202L	PRIC285_uc002yfl.1_Silent_p.L633L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1202					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			ACAAACGCCAGCTCGTGCCTC	0.657000														7			12		0	0	0.001855	0	0
TRIM60	166655	broad.mit.edu	37	4	165961311	165961311	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:165961311C>T	uc003iqy.1	+	2	257	c.87C>T	c.(85-87)atC>atT	p.I29I	TRIM60_uc010iqx.1_Silent_p.I29I|TRIM60_uc021xty.1_Silent_p.I29I	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	29						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTGACCATCAACTGTGGGC	0.507000														29			24		0	0	0.003954	0	0
PDCD1	5133	broad.mit.edu	37	2	242793338	242793338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242793338C>T	uc002wcq.4	-	4	807	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PDCD1_uc010fzs.3_Missense_Mutation_p.E126K|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	247					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGCATACTCCGTCTGCTCA	0.647000														26			16		0	0	0.000743	0	0
LYG2	254773	broad.mit.edu	37	2	99860566	99860566	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99860566C>T	uc002szw.1	-	4	529	c.416G>A	c.(415-417)tGg>tAg	p.W139*	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Nonsense_Mutation_p.W139*|LYG2_uc002szx.1_Nonsense_Mutation_p.W139*	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	139					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TTTGCTATCCCAGGCACCGAC	0.433000														21			17		0	0	0.000958	0	0
DLEC1	9940	broad.mit.edu	37	3	38135209	38135209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38135209G>A	uc003chp.1	+	11	1891	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	DLEC1_uc003cho.1_Missense_Mutation_p.E624K|DLEC1_uc010hgv.1_Missense_Mutation_p.E624K|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	624					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTTGAGCCTGAAAACCTTCG	0.483000														49			37		0	0	0.003755	0	0
HADHA	3030	broad.mit.edu	37	2	26457131	26457131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:26457131G>A	uc002rgy.3	-	4	537	c.407C>T	c.(406-408)cCt>cTt	p.P136L	HADHA_uc010yks.2_Missense_Mutation_p.P49L|HADHA_uc010ykt.1_Missense_Mutation_p.P49L	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	136					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGCCACAATAGGCTTTGTGGA	0.433000														41			29		0	0	0.001786	0	0
VILL	50853	broad.mit.edu	37	3	38042995	38042995	+	Missense_Mutation	SNP	C	T	T	rs145696544		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38042995C>T	uc003chj.3	+	11	1517	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	VILL_uc003chl.3_Missense_Mutation_p.H411Y|VILL_uc010hgu.3_Missense_Mutation_p.H241Y	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	411					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAGCGTCATGGACAGCT	0.592000														34			23		0	0	0.001882	0	0
CLIP3	25999	broad.mit.edu	37	19	36509891	36509891	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36509891C>T	uc010eeq.2	-	7	1406	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Silent_p.V364V	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	364					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGTGCGTCCACTGCCTTGG	0.627000														30			20		0	0	0.001061	0	0
ATP4A	495	broad.mit.edu	37	19	36046215	36046215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36046215C>T	uc002oal.1	-	14	2208	c.2179G>A	c.(2179-2181)Ggg>Agg	p.G727R	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	727					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACACCATCCCCCGTGACGGCC	0.622000														22			16		0	0	0.004990	0	0
SORCS3	22986	broad.mit.edu	37	10	106937879	106937879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106937879C>T	uc001kyi.1	+	13	2184	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	653						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCGGTTCCTCTCTTTGTTGA	0.473000														30			14		0	0	0.000743	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190993	42190993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42190993G>A	uc002ori.1	-	1	226	c.224C>T	c.(223-225)gCc>gTc	p.A75V	CEACAM7_uc010ehx.2_Missense_Mutation_p.A75V|CEACAM7_uc010ehy.1_Missense_Mutation_p.A75V	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	75	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCGATAGTTGGCATGCACCCT	0.458000														100			53		0	0	0.003610	0	0
CA13	377677	broad.mit.edu	37	8	86162971	86162971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:86162971C>T	uc003ydg.2	+	1	382	c.40C>T	c.(40-42)Cct>Tct	p.P14S	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	14					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TATTTAAGGTCCTATTCACTG	0.343000														51			39		0	0	0.001706	0	0
SKIL	6498	broad.mit.edu	37	3	170108171	170108171	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170108171C>T	uc003fgu.3	+	4	2302	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SKIL_uc011bps.2_Silent_p.I510I|SKIL_uc003fgv.3_Silent_p.I484I|SKIL_uc003fgw.3_Silent_p.I530I	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	530					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGGAAAAATCATGGAAGAAG	0.348000														50			22		0	0	0.001882	0	0
DHX29	54505	broad.mit.edu	37	5	54565332	54565332	+	Missense_Mutation	SNP	G	A	A	rs141718719		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:54565332G>A	uc003jpx.3	-	20	3323	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	1068							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGGCCCAACGGAGTCAGTTT	0.443000														8			19		0	0	0.000958	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429014	23429014	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:23429014C>T	uc003xdo.3	+	3	816	c.663C>T	c.(661-663)ttC>ttT	p.F221F	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|SLC25A37_uc003xdr.1_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	221					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCTATGAGTTCCTGCAGGAGC	0.657000														4			23		0	0	0.003954	0	0
ZNF804A	91752	broad.mit.edu	37	2	185463733	185463733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185463733G>A	uc002uph.3	+	0	641	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	16						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCAGCAACGGACACTTTCGC	0.582000														31			18		0	0	0.002780	0	0
NHLRC1	378884	broad.mit.edu	37	6	18121869	18121870	+	Missense_Mutation	DNP	GG	AA	AA	rs142941035	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18121869_18121870GG>AA	uc003ncl.1	-	0	982_983	c.968_969CC>TT	c.(967-969)tcc>tTT	p.S323F		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	323					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGTCACAGCGGAGGCAGTTAT	0.490000														48			28		0	0	0.004672	0	0
HYDIN	54768	broad.mit.edu	37	16	70917925	70917925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70917925C>T	uc002ezr.3	-	58	10025	c.9874G>A	c.(9874-9876)Gga>Aga	p.G3292R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3293										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)				TCACACTTTCCCATGGCGTCA	0.562000														23			22		0	0	0.002780	0	0
ELTD1	64123	broad.mit.edu	37	1	79357337	79357337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:79357337C>T	uc001diq.4	-	13	2038	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	628					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)		CAGGTGGTGCCGAGAAGGAAC	0.473000														28			13		0	0	0.001855	0	0
RFX6	222546	broad.mit.edu	37	6	117252551	117252551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117252551C>T	uc003pxm.3	+	18	2732	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	890					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATGGAACTTCCAACCAGTAT	0.418000														41			37		0	0	0.003755	0	0
RERE	473	broad.mit.edu	37	1	8418851	8418852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:8418851_8418852GG>AA	uc001ape.3	-	20	4553_4554	c.3743_3744CC>TT	c.(3742-3744)ccc>cTT	p.P1248L	RERE_uc001apf.3_Missense_Mutation_p.P1248L|RERE_uc001apd.3_Missense_Mutation_p.P694L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1248					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGTGTGTCGGGCCCGATGTA	0.653000														35			34		0	0	0.004672	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952509	120952509	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:120952509C>T	uc003eec.4	+	11	1298	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	STXBP5L_uc011bji.2_Silent_p.L386L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	386					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAAGATCTCATTGTAGTTG	0.279000														24			20		0	0	0.005443	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449677	61449677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61449677G>A	uc002ljl.3	+	1	167	c.71G>A	c.(70-72)gGa>gAa	p.G24E	SERPINB7_uc002ljm.3_Missense_Mutation_p.G24E|SERPINB7_uc010xet.2_Missense_Mutation_p.G24E|SERPINB7_uc010dqg.3_Missense_Mutation_p.G24E	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	24					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.G24R(3)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GACAATCAAGGAAATGGAAAT	0.502000														38			20		0	0	0.001216	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381321	55381321	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:55381321C>T	uc003pcn.3	-	4	627	c.468G>A	c.(466-468)caG>caA	p.Q156Q	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.Q126Q|HMGCLL1_uc010jzx.3_Silent_p.Q27Q|HMGCLL1_uc011dxc.2_Intron|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	156							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)			GGTGAAAACCCTGAAGATTAG	0.333000														56			31		0	0	0.004289	0	0
KIF1A	547	broad.mit.edu	37	2	241683418	241683418	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241683418G>A	uc010fzk.3	-	32	3772	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	KIF1A_uc002vzy.3_Silent_p.F1074F|KIF1A_uc002vzz.2_Silent_p.F1175F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1074					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAAAGACCTCGAAAACAATGG	0.627000														78			49		0	0	0.003610	0	0
RORB	6096	broad.mit.edu	37	9	77245258	77245258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:77245258G>A	uc004aji.3	+	1	150	c.101G>A	c.(100-102)gGa>gAa	p.G34E	RORB_uc004ajh.3_Missense_Mutation_p.G23E	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	34					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATCCACTACGGAGTCATCACA	0.448000														6			54		0	0	0.003610	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161969	161969	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:161969C>T	uc003jak.2	+	9	1541	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	497					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCCAGGATTTCAGAAGGGGCC	0.587000														25			13		0	0	0.002450	0	0
PDE1A	5136	broad.mit.edu	37	2	183053786	183053786	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:183053786C>T	uc002uos.3	-	12	1258	c.1174_splice	c.e12-1	p.G392_splice	PDE1A_uc010zfp.1_Splice_Site_p.G288_splice|PDE1A_uc002uoq.1_Splice_Site_p.G392_splice|PDE1A_uc010zfq.1_Splice_Site_p.G392_splice|PDE1A_uc002uor.3_Splice_Site_p.G376_splice|PDE1A_uc002uou.3_Splice_Site_p.G358_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	392	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G392E(2)|p.G392V(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCTTTATCTCCCTGGAGAAA	0.393000														57			35		0	0	0.003755	0	0
TAF3	83860	broad.mit.edu	37	10	8006646	8006646	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:8006646C>T	uc010qbd.2	+	2	1173	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	391					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGGCCTCTATCGATGCTGTGA	0.463000														44			26		0	0	0.001061	0	0
VAT1L	57687	broad.mit.edu	37	16	77918617	77918618	+	Missense_Mutation	DNP	GG	AA	AA	rs143077114	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77918617_77918618GG>AA	uc002ffg.1	+	6	1092_1093	c.995_996GG>AA	c.(994-996)cgg>cAA	p.R332Q		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	332							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGCCTCATTCGGGGAGTGGTGG	0.510000														12			11		0	0	0.004672	0	0
GRIA4	2893	broad.mit.edu	37	11	105775926	105775926	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:105775926C>T	uc001pix.2	+	8	1503	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	GRIA4_uc001piu.1_Nonsense_Mutation_p.R353*|GRIA4_uc001piw.2_Nonsense_Mutation_p.R353*|GRIA4_uc009yxk.1_Nonsense_Mutation_p.R353*	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	353					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CACTTAGGTTCGAATTCAAGG	0.378000														50			26		0	0	0.001271	0	0
PRKCG	5582	broad.mit.edu	37	19	54403565	54403565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54403565G>A	uc002qcq.1	+	11	1642	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	PRKCG_uc010yeg.1_Missense_Mutation_p.E454K|PRKCG_uc010yeh.1_Missense_Mutation_p.E341K	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	454	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAAGTTTAAGGAGCCCCATGC	0.592000														19			22		0	0	0.002299	0	0
CNTN5	53942	broad.mit.edu	37	11	100061891	100061891	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100061891C>T	uc001pga.3	+	13	2118	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	CNTN5_uc009ywv.2_Silent_p.I538I|CNTN5_uc001pfz.3_Silent_p.I538I|CNTN5_uc021qpb.1_Silent_p.I538I|CNTN5_uc021qpc.1_Silent_p.I464I|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	538	Ig-like C2-type 5.				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)		GTCTACGGATCCTAAATGCTT	0.368000														31			22		0	0	0.002780	0	0
OR2G3	81469	broad.mit.edu	37	1	247769715	247769715	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247769715C>T	uc010pyz.2	+	0	828	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	276					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)			TTATCTCCCTCTTCTACACCA	0.438000														34			31		0	0	0.001786	0	0
MYO3A	53904	broad.mit.edu	37	10	26310491	26310491	+	Silent	SNP	C	T	T	rs111860916		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26310491C>T	uc001isn.2	+	7	1005	c.645C>T	c.(643-645)tcC>tcT	p.S215S	MYO3A_uc009xko.1_Silent_p.S215S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.S215S|MYO3A_uc001ism.2_Silent_p.S215S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	215	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACACTTGGTCCCTGGGTATCA	0.463000														41			23		0	0	0.003330	0	0
CD1C	911	broad.mit.edu	37	1	158262655	158262655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158262655C>T	uc001fru.3	+	3	1172	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	294	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGACATCATCCTCTACTGGGG	0.532000														25			15		0	0	0.000743	0	0
ATL1	51062	broad.mit.edu	37	14	51095121	51095121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:51095121G>A	uc021rsw.1	+	11	1733	c.1492G>A	c.(1492-1494)Gga>Aga	p.G498R	ATL1_uc001wyd.4_Missense_Mutation_p.G498R|ATL1_uc001wyf.4_Missense_Mutation_p.G498R|ATL1_uc001wye.4_Missense_Mutation_p.G498R|ATL1_uc021rsx.1_Missense_Mutation_p.G498R	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	498	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCGGTACTCTGGAGAATACCG	0.463000														26			18		0	0	0.004990	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881164	35881164	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:35881164C>T	uc001byt.3	+	27	4238	c.4158C>T	c.(4156-4158)ttC>ttT	p.F1386F	ZMYM4_uc009vuu.3_Silent_p.F1354F|ZMYM4_uc001byu.3_Silent_p.F1062F|ZMYM4_uc009vuv.3_Silent_p.F1125F	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1386					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTTTTCTTCAATACCAAAT	0.443000														44			37		0	0	0.001706	0	0
PDE1A	5136	broad.mit.edu	37	2	183070689	183070689	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:183070689T>A	uc002uos.3	-	8	1012	c.928A>T	c.(928-930)Aat>Tat	p.N310Y	PDE1A_uc010zfp.1_Missense_Mutation_p.N206Y|PDE1A_uc002uoq.1_Missense_Mutation_p.N310Y|PDE1A_uc010zfq.1_Missense_Mutation_p.N310Y|PDE1A_uc002uor.3_Missense_Mutation_p.N294Y|PDE1A_uc002uou.3_Missense_Mutation_p.N276Y	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	310	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGGATAAATTTATCAAGATA	0.343000														33			24		0	0	0.003954	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796438	69796439	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69796438_69796439CC>TT	uc003hef.2	-	4	1160_1161	c.1129_1130GG>AA	c.(1129-1131)ggg>AAg	p.G377K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	377						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCATAGATCCCATTCATTCCA	0.386000														24			19		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215848679	215848679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215848679G>A	uc001hku.1	-	62	12961	c.12574C>T	c.(12574-12576)Cgc>Tgc	p.R4192C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4192	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R4192C(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)		AAGCATCTGCGAATCACTTCA	0.438000										HNSCC(13;0.011)				63			59		0	0	0.003610	0	0
ZFP42	132625	broad.mit.edu	37	4	188924786	188924786	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:188924786C>T	uc003izh.1	+	3	1233	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ZFP42_uc003izi.1_Silent_p.F275F|ZFP42_uc021xvm.1_Silent_p.F275F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	275					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAACGTTTCGTGTGTCCCT	0.488000														32			27		0	0	0.001271	0	0
TNIK	23043	broad.mit.edu	37	3	170800066	170800066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170800066C>T	uc003fhh.2	-	26	3632	c.3287G>A	c.(3286-3288)gGa>gAa	p.G1096E	TNIK_uc003fhi.2_Missense_Mutation_p.G1041E|TNIK_uc003fhj.2_Missense_Mutation_p.G1067E|TNIK_uc003fhk.2_Missense_Mutation_p.G1088E|TNIK_uc003fhl.2_Missense_Mutation_p.G1012E|TNIK_uc003fhm.2_Missense_Mutation_p.G1033E|TNIK_uc003fhn.2_Missense_Mutation_p.G1059E|TNIK_uc003fho.2_Missense_Mutation_p.G1004E|TNIK_uc003fhg.2_Missense_Mutation_p.G274E|TNIK_uc003fhp.3_Missense_Mutation_p.G28E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1096	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GACATTCAGTCCCTCTAGCAC	0.483000														13			7		0	0	0.003080	0	0
VEZT	55591	broad.mit.edu	37	12	95681522	95681522	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:95681522C>T	uc001tdz.2	+	8	1516	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	VEZT_uc001tds.3_Silent_p.L423L|VEZT_uc001tdv.3_Silent_p.L444L|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	471						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTATCCCATCCTAGAACAGAA	0.388000														6			4		0	0	0.000248	0	0
AFF3	3899	broad.mit.edu	37	2	100171180	100171180	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:100171180G>A	uc002taf.3	-	21	3519	c.3375C>T	c.(3373-3375)gcC>gcT	p.A1125A	AFF3_uc002tag.3_Silent_p.A1100A	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1100				SPA -> FPG (in Ref. 1; AAA98763).	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGCTTGGGCGGCTTTAGATG	0.512000														24			14		0	0	0.003163	0	0
SYT4	6860	broad.mit.edu	37	18	40850610	40850610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:40850610G>A	uc002law.3	-	3	1343	c.974C>T	c.(973-975)cCc>cTc	p.P325L	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.P307L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	325	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.P325L(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGACATAGGGATCTGCAGT	0.443000														25			21		0	0	0.003330	0	0
CHRM2	1129	broad.mit.edu	37	7	136700737	136700737	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:136700737G>A	uc003vtf.1	+	3	1748	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	CHRM2_uc003vtg.1_Silent_p.K375K|CHRM2_uc003vti.1_Silent_p.K375K|CHRM2_uc003vtm.1_Silent_p.K375K|CHRM2_uc003vtj.1_Silent_p.K375K|CHRM2_uc003vtk.1_Silent_p.K375K|CHRM2_uc003vtl.1_Silent_p.K375K|CHRM2_uc003vtn.1_Silent_p.K375K|CHRM2_uc003vto.1_Silent_p.K375K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.K375K	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	375					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGCAAAAAAGAAGCCTCCTC	0.483000														11			89		0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123985961	123985961	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123985961C>T	uc001lfv.3	+	12	8049	c.7689C>T	c.(7687-7689)ccC>ccT	p.P2563P	TACC2_uc001lfw.3_Silent_p.P709P|TACC2_uc009xzx.3_Silent_p.P2518P|TACC2_uc010qtv.2_Silent_p.P2567P|TACC2_uc001lfx.3_Silent_p.P267P|TACC2_uc001lfy.3_Silent_p.P263P|TACC2_uc001lfz.3_Silent_p.P641P|TACC2_uc001lga.3_Silent_p.P641P|TACC2_uc009xzy.3_Silent_p.P653P|TACC2_uc001lgb.3_Silent_p.P598P|TACC2_uc010qtw.1_Silent_p.P658P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2563						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.S2562F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTCATCTCCCGTCCGCATGT	0.522000														9			4		0	0	0.000248	0	0
DPYD	1806	broad.mit.edu	37	1	97770838	97770838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:97770838C>T	uc001drv.3	-	17	2413	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	759					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATATGTAGTTCGCTTTGCAAT	0.478000														52			37		0	0	0.004289	0	0
ZNF208	7757	broad.mit.edu	37	19	22170085	22170085	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22170085G>A	uc021urr.1	-	2	308	c.159C>T	c.(157-159)atC>atT	p.I53I	ZNF208_uc002nqo.1_Silent_p.I53I|ZNF208_uc002nqq.3_Non-coding_Transcript	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)				CCAGAAAAATGATCAGGTCTG	0.403000														46			27		0	0	0.001271	0	0
ANAPC1	64682	broad.mit.edu	37	2	112536329	112536329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:112536329G>A	uc002thi.3	-	44	5555	c.5308C>T	c.(5308-5310)Ctc>Ttc	p.L1770F		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.L1770L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAAGAAAAGAGATCCAGAATT	0.393000														77			22		0	0	0.001485	0	0
GRIK3	2899	broad.mit.edu	37	1	37267565	37267565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37267565G>A	uc001caz.2	-	15	2782	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	883					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACCATCATGGGAGGCTGAGGC	0.597000														25			24		0	0	0.002780	0	0
SERPINH1	871	broad.mit.edu	37	11	75279855	75279855	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:75279855C>T	uc001owr.3	+	2	1000	c.702C>T	c.(700-702)gtC>gtT	p.V234V	SERPINH1_uc009yuf.3_Silent_p.V234V|SERPINH1_uc009yug.3_Silent_p.V234V|SERPINH1_uc001ows.3_Silent_p.V234V|SERPINH1_uc001owt.3_Silent_p.V17V	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.	234					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)					CCGTGGGTGTCATGATGATGC	0.567000														22			18		0	0	0.001216	0	0
FLG	2312	broad.mit.edu	37	1	152285609	152285609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152285609C>T	uc001ezu.1	-	2	1789	c.1753G>A	c.(1753-1755)Ggg>Agg	p.G585R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	585	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGTGACCCTGAGTGCCTG	0.567000									Ichthyosis					139			115		0	0	0.003610	0	0
LTK	4058	broad.mit.edu	37	15	41797934	41797934	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:41797934G>A	uc001zoa.3	-	12	1852	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	LTK_uc001zob.3_Silent_p.F497F|LTK_uc010ucx.1_Silent_p.F428F|LTK_uc010bcg.2_Silent_p.F256F	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	558	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCTCCATGAGGAAATCCAGCT	0.612000										TSP Lung(18;0.14)				13			11		0	0	0.000978	0	0
RANBP2	5903	broad.mit.edu	37	2	109383802	109383802	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:109383802C>T	uc002tem.4	+	19	6933	c.6807C>T	c.(6805-6807)ttC>ttT	p.F2269F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2269					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						GATTTAACTTCAGTTTTAAAT	0.408000														173			119		0	0	0.003610	0	0
TDRD9	122402	broad.mit.edu	37	14	104515982	104515982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:104515982C>T	uc001yom.4	+	34	4042	c.4012C>T	c.(4012-4014)Ccc>Tcc	p.P1338S	TDRD9_uc001yon.4_Missense_Mutation_p.P885S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1338					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GAAGATTGTTCCCAAGTGGCA	0.443000														4			6		0	0	0.003080	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905720	132905720	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132905720C>T	uc002tti.3	-	6		c.1171G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						ATCAGGTGTTCTTTCCACCAA	0.438000														16			7		0	0	0.000673	0	0
P4HA1	5033	broad.mit.edu	37	10	74790066	74790066	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:74790066A>G	uc021ptk.1	-	8	1243	c.1211T>C	c.(1210-1212)cTa>cCa	p.L404P	P4HA1_uc010qka.2_Missense_Mutation_p.L404P|P4HA1_uc001jth.3_Missense_Mutation_p.L404P|P4HA1_uc001jtg.3_Missense_Mutation_p.L404P|P4HA1_uc010qkb.2_Missense_Mutation_p.L404P|P4HA1_uc021ptj.1_Missense_Mutation_p.L404P	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	404						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGTCCTGTTAGATCTTGTAT	0.363000														33			26		0	0	0.004656	0	0
OR10A6	390093	broad.mit.edu	37	11	7949824	7949824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7949824G>A	uc010rbh.2	-	0	386	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGTTGAGAGGATGGCAAAT	0.368000														38			22		0	0	0.002299	0	0
CCDC141	285025	broad.mit.edu	37	2	179701823	179701823	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179701823G>A	uc002une.2	-	22	4241	c.4123C>T	c.(4123-4125)Caa>Taa	p.Q1375*	CCDC141_uc002unf.1_Nonsense_Mutation_p.Q854*	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	800							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTGCCTGATTGAAACCTGAGG	0.488000														23			15		0	0	0.002450	0	0
TAF1C	9013	broad.mit.edu	37	16	84213039	84213039	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:84213039G>A	uc002fhn.3	-	13	2360	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	TAF1C_uc010vnz.2_Silent_p.P374P|TAF1C_uc002fho.3_Silent_p.P229P|TAF1C_uc010voa.2_Silent_p.P374P|TAF1C_uc002fhm.3_Silent_p.P612P|TAF1C_uc010vnx.2_Silent_p.P680P|TAF1C_uc010vny.2_Silent_p.P297P	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	706					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGGGTGCAGGGGGTGGCTCTG	0.701000														22			16		0	0	0.000743	0	0
THSD7B	80731	broad.mit.edu	37	2	137814029	137814029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:137814029G>A	uc002tva.1	+	1	86	c.86G>A	c.(85-87)gGa>gAa	p.G29E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	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)		GGTCCCGGAGGAGTCCAGAGT	0.493000														27			25		0	0	0.005443	0	0
TSC2	7249	broad.mit.edu	37	16	2100463	2100463	+	Silent	SNP	C	T	T	rs45460096		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2100463C>T	uc002con.3	+	2	307	c.201C>T	c.(199-201)gtC>gtT	p.V67V	TCRBV20S1_uc021tak.1_Intron|NTHL1_uc002col.1_5'Flank|TSC2_uc010uvu.1_Silent_p.V67V|TSC2_uc010bsd.3_Silent_p.V67V|TSC2_uc002coo.3_Silent_p.V67V|TSC2_uc010uvv.2_Silent_p.V67V|TSC2_uc010uvw.2_Silent_p.V18V|TSC2_uc002cop.3_5'UTR	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	67	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTTGTGAAGTCGCAAAAACCA	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					34			21		0	0	0.002299	0	0
USH2A	7399	broad.mit.edu	37	1	216251629	216251630	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:216251629_216251630CC>AA	uc001hku.1	-	26	5760_5761	c.5373_5374GG>TT	c.(5371-5376)ctgggg>ctTTgg	p.G1792W		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1792	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGGATAGCCCCAGCAATAGAT	0.366000										HNSCC(13;0.011)				437			11		0	0	0.004672	0	0
PLCE1	51196	broad.mit.edu	37	10	96058370	96058371	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96058370_96058371CC>TT	uc001kjk.3	+	23	6036_6037	c.5402_5403CC>TT	c.(5401-5403)ccc>cTT	p.P1801L	PLCE1_uc010qnx.2_Missense_Mutation_p.P1785L|PLCE1_uc001kjm.3_Missense_Mutation_p.P1493L|PLCE1_uc001kjp.3_Missense_Mutation_p.P159L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1801	PI-PLC Y-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACCCGAACCCCCTCATGTTCT	0.550000														58			31		0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166896056	166896056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166896056C>T	uc002udo.4	-	15	2693	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	SCN1A_uc010fpk.3_Missense_Mutation_p.M794I|SCN1A_uc021vsb.1_Missense_Mutation_p.M811I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	822						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTAAGGATCCATGGCAATAA	0.358000														22			12		0	0	0.001368	0	0
AK098438	0	broad.mit.edu	37	1	21753543	21753543	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21753543C>T	uc001bep.1	-	1		c.48G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TGGTCTTCTTCCTCTTCTTGG	0.463000														16			5		0	0	0.003080	0	0
JARID2	3720	broad.mit.edu	37	6	15496531	15496531	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:15496531G>C	uc003nbj.3	+	6	1319	c.1075G>C	c.(1075-1077)Gac>Cac	p.D359H	JARID2_uc011diu.1_Missense_Mutation_p.D223H|JARID2_uc011div.2_Missense_Mutation_p.D187H|JARID2_uc011diw.1_Missense_Mutation_p.D321H	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	359					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTGGTCAAGGACACCAAACC	0.512000														25			14		0	0	0.001855	0	0
NLRP4	147945	broad.mit.edu	37	19	56388524	56388524	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56388524G>A	uc002qmd.4	+	7	3110	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E	NLRP4_uc002qmf.3_Silent_p.E821E|NLRP4_uc010etf.3_Silent_p.E671E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	896							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)		GCCGCTTAGAGATTCTTGGGT	0.468000														80			40		0	0	0.002522	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763887	110763887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:110763887G>A	uc003puf.3	-	3	810	c.743C>T	c.(742-744)tCc>tTc	p.S248F	SLC22A16_uc003pue.3_Missense_Mutation_p.S229F	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	248					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TGCAAAAAAGGAATGCAAATG	0.488000														38			14		0	0	0.002450	0	0
KCNA6	3742	broad.mit.edu	37	12	4919844	4919844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:4919844C>T	uc001qng.3	+	0	1503	c.637C>T	c.(637-639)Cga>Tga	p.R213*	KCNA6_uc021qtr.1_Nonsense_Mutation_p.R213*	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	213						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						TGGTGTGAGTCGAGTCTCCCC	0.532000										HNSCC(72;0.22)				18			15		0	0	0.002450	0	0
ADAM33	80332	broad.mit.edu	37	20	3651711	3651711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3651711G>A	uc002wit.3	-	18	2269	c.2182C>T	c.(2182-2184)Cca>Tca	p.P728S	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.P728S|ADAM33_uc002wis.3_Missense_Mutation_p.P224S|ADAM33_uc002wiu.3_Missense_Mutation_p.P702S|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	728					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGGCTCCTGGGAGTCGGTAG	0.662000														0			6		0	0	0.003080	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305578	99305578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99305578C>T	uc003uru.3	-	11	1376	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	425					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCTATGTTGTCCTTGTTCTTT	0.383000														27			115		0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	36125135	36125135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:36125135G>A	uc021rid.1	+	42	7306	c.6772G>A	c.(6772-6774)Gga>Aga	p.G2258R	NBEA_uc021ric.1_Missense_Mutation_p.G2255R|NBEA_uc010abi.3_Missense_Mutation_p.G914R|NBEA_uc010tee.1_Missense_Mutation_p.G51R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G51R|NBEA_uc010teg.1_Missense_Mutation_p.G51R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2258						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)		GCCTCGGGTTGGAGTAGGGAC	0.358000														25			19		0	0	0.001882	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143184	91143184	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:91143184G>A	uc001kgh.3	+	1	194	c.114G>A	c.(112-114)agG>agA	p.R38R	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	38							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TAGAAAACAGGATCTGGGAAG	0.428000														55			26		0	0	0.001061	0	0
SCLT1	132320	broad.mit.edu	37	4	129864297	129864297	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:129864297G>A	uc003igp.2	-	16	1992	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	SCLT1_uc003ign.2_Nonsense_Mutation_p.Q160*|SCLT1_uc003igo.2_Nonsense_Mutation_p.Q106*|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	496						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AATACATTTTGAAGTTTCTGA	0.348000														29			20		0	0	0.001882	0	0
NLRP4	147945	broad.mit.edu	37	19	56382295	56382295	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56382295G>A	uc002qmd.4	+	6	2879	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	NLRP4_uc002qmf.3_Silent_p.L744L|NLRP4_uc010etf.3_Silent_p.L594L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	819							ATP binding	p.L819L(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)		CCAATGTCCTGAAGGACGAAG	0.507000														42			39		0	0	0.003214	0	0
GPR83	10888	broad.mit.edu	37	11	94113903	94113903	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:94113903G>A	uc001pet.2	-	3	856	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	228						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGGCTCAGGGAAGTCTGGCA	0.572000														26			17		0	0	0.001523	0	0
FAM217B	63939	broad.mit.edu	37	20	58519433	58519433	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:58519433C>T	uc021wft.1	+	0	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F	FAM217B_uc002yba.3_Silent_p.F145F|FAM217B_uc002ybc.3_Silent_p.F145F|FAM217B_uc010zzx.2_Intron	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	145																	ATCCTAATTTCCTTCCATCCC	0.483000														50			20		0	0	0.001216	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238628209	238628209	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238628209C>T	uc002vxe.3	+	3	490	c.198_splice	c.e3+1	p.S66_splice	LRRFIP1_uc002vxc.3_Splice_Site_p.S98_splice|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Splice_Site_p.S66_splice|LRRFIP1_uc002vxf.3_Intron	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	66					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.S66L(2)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAAACACATCGGTTAGTACC	0.373000														21			14		0	0	0.002450	0	0
RASAL2	9462	broad.mit.edu	37	1	178411840	178411840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:178411840C>T	uc001glq.3	+	7	1722	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	RASAL2_uc001glr.3_Missense_Mutation_p.R172C	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	172					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.C319S(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAATGTTCTTCGTTTATGGAT	0.393000														45			27		0	0	0.002836	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54646762	54646762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:54646762C>T	uc003jpy.4	+	12	1602	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	SKIV2L2_uc011cqi.2_Missense_Mutation_p.P345S	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	446	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)				ACATGTACTTCCTCTTTTGAA	0.294000														13			43		0	0	0.003610	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887373	9887373	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:9887373C>T	uc002koi.4	+	1	1346	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TXNDC2_uc002koh.4_Silent_p.L232L|TXNDC2_uc021ugx.1_Silent_p.L232L	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	299	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACCTCCCCAAGTCCC	0.602000														44			17		0	0	0.000743	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19445989	19445989	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:19445989G>A	uc010tcj.1	-	0		c.121C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CATTTAAAAAGAACTACTGTA	0.318000														8			43		0	0	0.002222	0	0
GPS2	2874	broad.mit.edu	37	17	7227207	7227207	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7227207G>A	uc002gga.1	-	11	2194	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	GPS2_uc002ggb.1_Silent_p.I729I|GPS2_uc002ggc.1_Silent_p.I75I	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCCCGTTAGTGATGACTGCGT	0.612000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			65		0	0	0.003610	0	0
NMI	9111	broad.mit.edu	37	2	152138507	152138507	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152138507G>A	uc002txi.2	-	2	462	c.132C>T	c.(130-132)atC>atT	p.I44I	NMI_uc010zbx.1_Silent_p.I44I|NMI_uc002txj.2_Intron	NM_004688	NP_004679	Q13287	NMI_HUMAN	Homo sapiens N-myc (and STAT) interactor (NMI), mRNA.	44					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)		CAAGCTTTTGGATCTCCTTCT	0.318000														48			27		0	0	0.001786	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912661	170912661	+	Silent	SNP	G	A	A	rs148626017		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:170912661G>A	uc003isp.4	-	2	1276	c.1098C>T	c.(1096-1098)acC>acT	p.T366T	MFAP3L_uc003isn.4_Silent_p.T263T|MFAP3L_uc021xuj.1_Silent_p.T263T	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGTTAGCTCGGTGGACGTGA	0.512000														48			38		0	0	0.001706	0	0
CSMD2	114784	broad.mit.edu	37	1	34102127	34102127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34102127G>A	uc001bxm.1	-	29	4979	c.4802C>T	c.(4801-4803)cCt>cTt	p.P1601L	CSMD2_uc001bxn.1_Missense_Mutation_p.P1561L|CSMD2_uc001bxo.1_Missense_Mutation_p.P474L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1561	Sushi 9.					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)				GATGGAACCAGGATCAAAACA	0.567000														17			10		0	0	0.000673	0	0
BEST4	266675	broad.mit.edu	37	1	45250386	45250386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45250386C>T	uc001cmm.3	-	7	1112	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	355						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GGCTGGTCCTCATCCCAGTAC	0.622000														39			32		0	0	0.002836	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499345	150499345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150499345G>A	uc003whx.1	+	2	295	c.217G>A	c.(217-219)Gga>Aga	p.G73R	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	73						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCTAGGAGGATTTTTCTA	0.572000														55			21		0	0	0.002780	0	0
ITGA4	3676	broad.mit.edu	37	2	182374408	182374408	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:182374408C>T	uc002unu.3	+	15	2482	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	ITGA4_uc010frj.1_Silent_p.T55T	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	573					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACATCCTCACCCCAATTCAGA	0.393000														41			19		0	0	0.002299	0	0
PLS1	5357	broad.mit.edu	37	3	142402848	142402848	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142402848G>A	uc010huv.3	+	7	739	c.580_splice	c.e7-1	p.E194_splice	PLS1_uc003euz.3_Splice_Site_p.E194_splice|PLS1_uc003eva.3_Splice_Site_p.E194_splice	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	194	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E194K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GGCAATTCAGGAAAATTTAAA	0.358000														35			13		0	0	0.001855	0	0
TNS3	64759	broad.mit.edu	37	7	47384609	47384609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:47384609G>A	uc003tnw.3	-	18	2837	c.2479C>T	c.(2479-2481)Ctc>Ttc	p.L827F	TNS3_uc022acn.1_Missense_Mutation_p.L384F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	827						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATAATATCGAGGTCCTGGGGA	0.478000														26			24		0	0	0.001512	0	0
OR4M1	441670	broad.mit.edu	37	14	20249364	20249364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20249364G>A	uc010tku.2	+	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGAAACAAGGAAGTAAAGGC	0.358000														28			17		0	0	0.000743	0	0
CD200R1L	344807	broad.mit.edu	37	3	112538669	112538669	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:112538669G>A	uc003dzi.1	-	4	979	c.753C>T	c.(751-753)gtC>gtT	p.V251V	CD200R1L_uc010hqf.1_Silent_p.V230V|CD200R1L_uc011bhw.1_Silent_p.V230V	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	251						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGACCAGAATGACCACAAAAA	0.383000														38			26		0	0	0.003954	0	0
MYO18B	84700	broad.mit.edu	37	22	26164828	26164828	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26164828G>A	uc003abz.1	+	3	1195	c.945G>A	c.(943-945)ggG>ggA	p.G315G	MYO18B_uc003aca.1_Silent_p.G196G|MYO18B_uc010guy.1_Silent_p.G196G|MYO18B_uc010guz.1_Silent_p.G196G|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	315						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.G315V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAATCCCTGGGAGAAAGTGGG	0.532000														11			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179481726	179481726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179481726C>T	uc021vsy.1	-	204	40411	c.40186G>A	c.(40186-40188)Gat>Aat	p.D13396N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D7091N|TTN_uc021vta.1_Missense_Mutation_p.D7024N|TTN_uc021vtb.1_Missense_Mutation_p.D6899N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14323	Ig-like 90.						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)			GCACTTAAATCCATTGTTGGT	0.423000														86			46		0	0	0.003610	0	0
ME3	10873	broad.mit.edu	37	11	86157481	86157481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:86157481C>T	uc001pbz.3	-	11	1683	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	ME3_uc001pca.3_Missense_Mutation_p.E477K|ME3_uc009yvk.3_Missense_Mutation_p.E477K	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	477					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TTGCCATCTTCCAGAGTCACA	0.542000														21			20		0	0	0.001882	0	0
AMICA1	120425	broad.mit.edu	37	11	118067453	118067453	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118067453G>A	uc001psk.2	-	8	1263	c.1089C>T	c.(1087-1089)acC>acT	p.T363T	AMICA1_uc001psg.2_Silent_p.T173T|AMICA1_uc001psh.2_Silent_p.T324T|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.T353T|AMICA1_uc010rxw.1_Silent_p.T324T|AMICA1_uc010rxx.1_3'UTR	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	363					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTCTCACCATGGTCATGTAGG	0.542000														58			39		0	0	0.002222	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552637	57552637	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:57552637T>A	uc002elw.3	-	4	1151	c.938A>T	c.(937-939)gAg>gTg	p.E313V		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	313										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGGTGCGCCTCCTTCAGGAT	0.637000														3			5		0	0	0.000602	0	0
KRT38	8687	broad.mit.edu	37	17	39596766	39596766	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39596766G>A	uc002hwq.1	-	0	831	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	136	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCTCTCGAGGAGTGTGGCCT	0.592000														10			49		0	0	0.003610	0	0
SH3RF1	57630	broad.mit.edu	37	4	170077708	170077708	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:170077708G>A	uc003isa.1	-	2	851	c.516C>T	c.(514-516)taC>taT	p.Y172Y	SH3RF1_uc010irc.1_5'UTR	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	172	SH3 1.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTCCCCATGGTACCAATTTT	0.428000														66			46		0	0	0.003610	0	0
STK36	27148	broad.mit.edu	37	2	219557366	219557366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219557366C>T	uc002viu.3	+	15	2255	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	STK36_uc002viv.3_Missense_Mutation_p.S659F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	659					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGAGCCATTTCCTCTGCCCTG	0.572000														13			7		0	0	0.003080	0	0
SOX6	55553	broad.mit.edu	37	11	16071343	16071343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:16071343G>A	uc001mme.3	-	10	1465	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	SOX6_uc001mmd.3_Missense_Mutation_p.P427S|SOX6_uc001mmf.3_Missense_Mutation_p.P424S|SOX6_uc001mmg.3_Missense_Mutation_p.P465S	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	465					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATGGGGCTAGGGATGCTGCTT	0.493000														115			99		0	0	0.003610	0	0
KIF15	56992	broad.mit.edu	37	3	44844348	44844348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44844348C>T	uc003cnx.4	+	13	1701	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	KIF15_uc010hiq.3_Missense_Mutation_p.H421Y|KIF15_uc003cny.1_Missense_Mutation_p.H153Y	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	518					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TATGGAAAATCATTCCCTCAG	0.378000														43			36		0	0	0.001287	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535652	90535652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90535652C>T	uc010mqi.3	+	3	859	c.830C>T	c.(829-831)cCa>cTa	p.P277L	FAM75C1_uc004apq.4_Missense_Mutation_p.P260L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCTTCTGTCCCAGCCATCTCA	0.547000														12			79		0	0	0.003610	0	0
POTEF	728378	broad.mit.edu	37	2	130878001	130878001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:130878001G>A	uc010fmh.2	-	2	488	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	30						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						GGGAAGCAACGGCAGCACCAC	0.552000														74			49		0	0	0.003610	0	0
DLG2	1740	broad.mit.edu	37	11	83497758	83497758	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:83497758C>T	uc001paj.2	-	12	1788	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	DLG2_uc001pai.2_Silent_p.T392T|DLG2_uc010rsy.1_Silent_p.T462T|DLG2_uc021qof.1_Silent_p.T534T|DLG2_uc010rsz.1_Silent_p.T495T|DLG2_uc010rta.1_Silent_p.T495T|DLG2_uc001pak.2_Silent_p.T600T|DLG2_uc010rtb.1_Silent_p.T462T|DLG2_uc001pal.1_Silent_p.T495T|DLG2_uc001pam.2_Silent_p.T534T	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	495	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGCTATAATCGTCACTGTCT	0.453000														37			12		0	0	0.001368	0	0
OPLAH	26873	broad.mit.edu	37	8	145113430	145113431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145113430_145113431CC>TT	uc003zar.3	-	5	833_834	c.751_752GG>AA	c.(751-753)ggc>AAc	p.G251N	OPLAH_uc003zat.1_Missense_Mutation_p.G29N	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	251							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGGCAGAAGCCCTGCACGTAG	0.698000														37			13		0	0	0.004672	0	0
KIAA0494	9813	broad.mit.edu	37	1	47131012	47131012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47131012G>A	uc010omh.1	-	9	2122	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	ATPAF1_uc009vyk.3_5'UTR|ATPAF1_uc010omg.2_Silent_p.S9S|ATPAF1_uc001cqh.3_Silent_p.S97S|ATPAF1_uc001cqi.3_Silent_p.S97S	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	442							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGGCGGGACTCAAAAG	0.473000														18			14		0	0	0.003163	0	0
SBSN	374897	broad.mit.edu	37	19	36018994	36018994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36018994C>T	uc002oad.2	-	0	260	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	SBSN_uc002oae.2_Missense_Mutation_p.E64K|SBSN_uc021usp.1_Missense_Mutation_p.E64K	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	64	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCCACTTCCCTTCCGGCA	0.567000														77			51		0	0	0.003610	0	0
EMBP1	647121	broad.mit.edu	37	1	121307573	121307573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:121307573G>A	uc009wht.1	+	1	300	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		TGAGGGGAAAGAATTTGAGCA	0.308000														36			16		0	0	0.001216	0	0
GRIK3	2899	broad.mit.edu	37	1	37356632	37356632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37356632G>A	uc001caz.2	-	1	316	c.181C>T	c.(181-183)Cga>Tga	p.R61*	GRIK3_uc001cba.1_Nonsense_Mutation_p.R61*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	61					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGAAAATCGAAAGGCATGC	0.502000														119			78		0	0	0.003610	0	0
TNFSF18	8995	broad.mit.edu	37	1	173020090	173020090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173020090G>A	uc001giu.2	-	0	14	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	5					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGGGTGAAGGATGCAATGTC	0.373000														19			33		0	0	0.003271	0	0
LGI3	203190	broad.mit.edu	37	8	22005901	22005901	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:22005901G>A	uc003xav.3	-	7	1708	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	LGI3_uc010ltu.3_Silent_p.F449F	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	473					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CACCCACAAGGAAGGGCTGCA	0.642000														0			14		0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	71113793	71113793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:71113793G>A	uc002ezr.3	-	12	1884	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	HYDIN_uc010cfz.2_Missense_Mutation_p.S323F|HYDIN_uc021tkq.1_Missense_Mutation_p.S578F|HYDIN_uc010vmc.2_Missense_Mutation_p.S595F|HYDIN_uc010vmd.2_Missense_Mutation_p.S605F|HYDIN_uc002ezw.4_Missense_Mutation_p.S595F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	578										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)				CTCACCAAAGGAAACATCACC	0.438000														8			5		0	0	0.001984	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799843	159799843	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159799843C>T	uc001fue.4	+	1	438	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	76						integral to membrane		p.R75R(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ATTCCCGCTTCCTGGGCCGAG	0.607000														48			66		0	0	0.003610	0	0
LOC440041	440041	broad.mit.edu	37	11	55063165	55063165	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55063165T>A	uc021qjb.1	-	3		c.472_splice	c.e3-1		LOC440041_uc001nhl.1_Splice_Site					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ACTCACATAATCCTGCAGTGA	0.353000														9			6		0	0	0.001168	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559711	140559711	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140559711C>A	uc011dai.2	+	0	2341	c.2096C>A	c.(2095-2097)tCt>tAt	p.S699Y	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	699					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCGGTGTCTTCGCTCTTC	0.687000														22			30		2.09667e-21	4.41855e-21	0.003755	1	0
BANK1	55024	broad.mit.edu	37	4	102993522	102993522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:102993522G>A	uc003hvy.4	+	14	2537	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	BANK1_uc003hvx.4_Missense_Mutation_p.E740K|BANK1_uc010ill.3_Missense_Mutation_p.E622K|BANK1_uc003hvz.4_Missense_Mutation_p.E725K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	755					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGCCCACAATGAAAATAAGTT	0.259000														90			63		0	0	0.003610	0	0
LTN1	26046	broad.mit.edu	37	21	30338887	30338887	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:30338887G>A	uc002ymr.2	-	9	2077	c.2064C>T	c.(2062-2064)gtC>gtT	p.V688V	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	642							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTTTGGCTTGGACAATACTCT	0.383000														37			19		0	0	0.000743	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857186	9857186	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9857186C>T	uc010uym.2	-	13	4525	c.4215G>A	c.(4213-4215)ttG>ttA	p.L1405L	GRIN2A_uc002czo.4_Silent_p.L1405L|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1405					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)	CCGTTGACCTCAAGGACGACC	0.498000														34			21		0	0	0.002780	0	0
C5AR1	728	broad.mit.edu	37	19	47823763	47823764	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47823763_47823764GG>AA	uc002pgj.1	+	1	778_779	c.729_730GG>AA	c.(727-732)gtggtg>gtAAtg	p.V244M		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	244					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CACTCAAGGTGGTGGTGGCAGT	0.574000														37			22		0	0	0.004672	0	0
CLCA4	22802	broad.mit.edu	37	1	87041210	87041210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87041210G>A	uc009wcs.3	+	10	1923	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	CLCA4_uc009wct.3_Missense_Mutation_p.A390T|CLCA4_uc009wcu.3_Missense_Mutation_p.A447T	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	627						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)		TGTTCTTGGAGCCAATGTGAC	0.378000														63			51		0	0	0.003610	0	0
GAS6	2621	broad.mit.edu	37	13	114535377	114535377	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:114535377G>A	uc001vug.3	-	1	1193	c.141C>T	c.(139-141)atC>atT	p.I47I	GAS6_uc001vud.3_Silent_p.I346I|GAS6_uc001vuf.3_Silent_p.I73I	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	389					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGGCCAGCACGATCCAGGTGC	0.657000														5			13		0	0	0.001855	0	0
LIPN	643418	broad.mit.edu	37	10	90528619	90528619	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:90528619G>A	uc010qmw.2	+	4	606	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	202					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGGGTCCTACGATCTCATTCA	0.408000														34			21		0	0	0.001216	0	0
OR4K13	390433	broad.mit.edu	37	14	20502633	20502633	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502633C>T	uc010tkz.2	-	0	285	c.285G>A	c.(283-285)tgG>tgA	p.W95*		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATAACATCCCCACCATGAGA	0.458000														35			33		0	0	0.002836	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042543	75042543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75042543C>T	uc002ayr.1	+	1	528	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	155					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GACCCAGCTTCCTCATCCTCC	0.627000														62			36		0	0	0.005524	0	0
IQUB	154865	broad.mit.edu	37	7	123092841	123092841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:123092841C>T	uc003vkn.3	-	12	2909	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N	IQUB_uc011kny.2_Missense_Mutation_p.D111N|IQUB_uc003vko.3_Missense_Mutation_p.D778N|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	778										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGTGTTGTGTCTGAGTGATAC	0.398000														26			26		0	0	0.005443	0	0
ADARB2	105	broad.mit.edu	37	10	1262912	1262912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:1262912G>A	uc009xhq.3	-	6	1987	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	554	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTCCGTGCAGGACATGGTGAT	0.682000														11			6		0	0	0.001984	0	0
KRT4	3851	broad.mit.edu	37	12	53207852	53207852	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53207852G>A	uc001saz.3	-	0	213	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGGCTGCAGAGAGCGAGCTGG	0.627000														29			20		0	0	0.001882	0	0
EPHA4	2043	broad.mit.edu	37	2	222291234	222291234	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:222291234G>A	uc002vmq.3	-	15	2838	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	EPHA4_uc002vmr.2_Silent_p.F932F|EPHA4_uc010zlm.1_Silent_p.F873F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	932	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGCAGCTGTGAAGTTATCCT	0.463000														20			29		0	0	0.002096	0	0
EPPK1	83481	broad.mit.edu	37	8	144944646	144944646	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144944646G>A	uc003zaa.1	-	0	2789	c.2776C>T	c.(2776-2778)Ctg>Ttg	p.L926L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	926						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCGCACAGGTACCTGCGG	0.677000														21			15		0	0	0.000743	0	0
ASB17	127247	broad.mit.edu	37	1	76384686	76384686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:76384686G>A	uc001dhe.2	-	2	979	c.839C>T	c.(838-840)tCa>tTa	p.S280L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	280	SOCS box.				intracellular signal transduction			p.S280L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AATTAGAAGTGAAAATATTCC	0.348000														61			33		0	0	0.003271	0	0
RIMS2	9699	broad.mit.edu	37	8	105263337	105263337	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105263337C>T	uc003yls.3	+	26	4072	c.3831C>T	c.(3829-3831)ccC>ccT	p.P1277P	RIMS2_uc003ylp.3_Silent_p.P1259P|RIMS2_uc003ylw.2_Silent_p.P1266P|RIMS2_uc003ylq.3_Silent_p.P1073P|RIMS2_uc003ylr.3_Silent_p.P1098P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1321	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTGGAACCCCTTTACCAGC	0.363000										HNSCC(12;0.0054)				21			24		0	0	0.003330	0	0
C3orf15	89876	broad.mit.edu	37	3	119449180	119449180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119449180G>A	uc003ede.4	+	7	1051	c.974G>A	c.(973-975)gGa>gAa	p.G325E	C3orf15_uc010hqy.2_Missense_Mutation_p.G325E|C3orf15_uc010hqz.3_Missense_Mutation_p.G263E|C3orf15_uc011bjd.2_Missense_Mutation_p.G199E|C3orf15_uc011bje.2_Missense_Mutation_p.G305E|C3orf15_uc010hra.2_Missense_Mutation_p.G86E	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	325						mitochondrion	protein binding	p.E324D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CTGCAGGAGGGAAAAGAGGCA	0.443000														63			63		0	0	0.003610	0	0
IL5	3567	broad.mit.edu	37	5	131877530	131877530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:131877530C>T	uc003kxe.1	-	3	422	c.378G>A	c.(376-378)atG>atA	p.M126I		NM_000879	NP_000870	P05113	IL5_HUMAN	Homo sapiens interleukin 5 (colony-stimulating factor, eosinophil) (IL5), mRNA.	126					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	ACTCGGTGTTCATTACACCAA	0.393000														8			27		0	0	0.001271	0	0
ABCB4	5244	broad.mit.edu	37	7	87053297	87053297	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87053297G>A	uc003uiv.1	-	16	2212	c.2136C>T	c.(2134-2136)gtC>gtT	p.V712V	ABCB4_uc003uiw.1_Silent_p.V712V|ABCB4_uc003uix.1_Silent_p.V712V	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	712	ABC transmembrane type-1 2.				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)					CTGTTCCCACGACAAAGTAGG	0.448000														99			44		0	0	0.003214	0	0
PXDN	7837	broad.mit.edu	37	2	1677558	1677558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1677558G>A	uc002qxa.3	-	8	939	c.875C>T	c.(874-876)tCc>tTc	p.S292F	PXDN_uc002qxb.1_Missense_Mutation_p.S292F|PXDN_uc002qxc.1_Missense_Mutation_p.S109F	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	292	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.D291N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTTAGGCGGGAATCTGTCTT	0.512000														32			10		0	0	0.000443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188073	140188073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140188073C>T	uc003lhi.2	+	0	1402	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S434L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S434L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	448	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)			GGCTCGCCTTCGCTGTGGGCC	0.612000														11			42		0	0	0.002522	0	0
PDGFA	5154	broad.mit.edu	37	7	550580	550580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:550580G>A	uc003sir.3	-	3	1162	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PDGFA_uc003sis.3_Missense_Mutation_p.R107W|PDGFA_uc003sit.1_Missense_Mutation_p.R121W	NM_002607	NP_002598	P04085	PDGFA_HUMAN	Homo sapiens platelet-derived growth factor alpha polypeptide (PDGFA), transcript variant 1, mRNA.	107					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	Golgi membrane|cell surface|endoplasmic reticulum lumen|extracellular space|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		ACCTGACTCCGAGGAATCTCG	0.642000														11			8		0	0	0.000443	0	0
PCDH18	54510	broad.mit.edu	37	4	138451044	138451044	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138451044G>A	uc003ihe.4	-	0	2586	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	PCDH18_uc003ihf.4_Silent_p.S726S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.S513S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	733					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCAGTTATAGGATCTAGTGT	0.443000														36			18		0	0	0.001216	0	0
OR56A5	390084	broad.mit.edu	37	11	5989656	5989656	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5989656G>A	uc010qzu.2	-	0	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	23						integral to membrane|plasma membrane	olfactory receptor activity										GCCAGCTCTGGAAACTGGGGA	0.507000														1			5		0	0	0.000602	0	0
FAM220A	84792	broad.mit.edu	37	7	6370637	6370637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:6370637G>A	uc003spu.3	-	1	617	c.149C>T	c.(148-150)cCt>cTt	p.P50L	FAM220A_uc021zzf.1_Missense_Mutation_p.P50L	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	50						nucleus											ATCAACCACAGGCTTATTCAT	0.547000														40			29		0	0	0.002445	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103909	36103909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:36103909G>A	uc001wtj.3	-	31	4739	c.4348C>T	c.(4348-4350)Ccc>Tcc	p.P1450S	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1450S|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1463S|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1497S	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1450	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGCTCATGGGAAAATACCTT	0.403000														7			21		0	0	0.004656	0	0
HPS1	3257	broad.mit.edu	37	10	100177480	100177480	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:100177480C>T	uc021pwv.1	-	19	2190	c.1944G>A	c.(1942-1944)aaG>aaA	p.K648K	PYROXD2_uc001kpc.3_5'Flank|PYROXD2_uc010qpe.2_5'Flank	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	648					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCGCAGGAGCTTCCTGGGGA	0.637000									Hermansky-Pudlak syndrome					13			16		0	0	0.004990	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86541412	86541412	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:86541412G>A	uc011kha.2	-	14	2330	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	KIAA1324L_uc003uie.3_Silent_p.F548F|KIAA1324L_uc011kgz.2_Silent_p.F601F|KIAA1324L_uc003uif.2_Silent_p.F467F	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	715						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AACTGATATTGAAGAAATGGA	0.423000														66			89		0	0	0.003610	0	0
ABCB4	5244	broad.mit.edu	37	7	87101970	87101970	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87101970C>T	uc003uiv.1	-	2	178	c.102G>A	c.(100-102)acG>acA	p.T34T	ABCB4_uc003uiw.1_Silent_p.T34T|ABCB4_uc003uix.1_Silent_p.T34T|ABCB4_uc003uiy.3_Silent_p.T34T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	34					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)					TCACTGTCTTCGTTTTTTTCC	0.249000														90			30		0	0	0.001271	0	0
EEF2	1938	broad.mit.edu	37	19	3977513	3977513	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3977513G>A	uc002lze.3	-	12	2246	c.2163C>T	c.(2161-2163)atC>atT	p.I721I		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	721						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGGGATGATCTGGCCCC	0.662000														13			5		0	0	0.000602	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166783	96166783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:96166783C>T	uc022ayk.1	+	0	511	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	PLEKHF2_uc003yhn.2_Missense_Mutation_p.R171C	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	171						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					ACCTGTTAATCGTCGCCACCA	0.488000														558			232		0	0	0.003610	0	0
STYXL1	51657	broad.mit.edu	37	7	75651290	75651290	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75651290G>A	uc003uel.3	-	3	529	c.186C>T	c.(184-186)ctC>ctT	p.L62L	STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_5'UTR|STYXL1_uc011kgf.2_5'UTR|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Silent_p.L62L|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Silent_p.L62L|STYXL1_uc003uen.1_Silent_p.L62L	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	62	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGACTCCGGGAGAAGATATT	0.448000														6			84		0	0	0.003610	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027937	92027937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92027937C>T	uc003ulw.2	+	19	3320	c.2944C>T	c.(2944-2946)Cct>Tct	p.P982S	ANKIB1_uc010lew.1_Missense_Mutation_p.P251S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	982							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGACATGAACCCTCAGAGTAT	0.488000														36			50		0	0	0.003610	0	0
CEACAM19	56971	broad.mit.edu	37	19	45182157	45182158	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45182157_45182158CC>TT	uc002ozo.4	+	3	1088_1089	c.608_609CC>TT	c.(607-609)tcc>tTT	p.S203F	CEACAM19_uc002ozp.4_Missense_Mutation_p.S203F	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	203						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ggatctctgtccatcttgtgct	0.475000														235			198		0	0	0.004672	0	0
OR10R2	343406	broad.mit.edu	37	1	158450022	158450022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158450022C>T	uc010pik.2	+	0	355	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGTTGTGCTCTTCAAATGTT	0.443000														127			158		0	0	0.003610	0	0
LIPJ	142910	broad.mit.edu	37	10	90366539	90366539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:90366539G>A	uc001kff.3	+	10	1290	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	326					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTTACATTCTGAAATCACAAA	0.318000														46			27		0	0	0.003954	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885776	69885776	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69885776A>G	uc011cao.1	-	2	318	c.192T>C	c.(190-192)ttT>ttC	p.F64F	UGT2B10_uc011can.1_Silent_p.F64F			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	108					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GTTCTTGTGAAAAATATAACC	0.289000														19			11		0	0	0.000673	0	0
DRD1	1812	broad.mit.edu	37	5	174869078	174869078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:174869078G>A	uc003mcz.3	-	1	1970	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	DRD1_uc021yia.1_Missense_Mutation_p.S342L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	342					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TAAGAGGGTTGAAAATGCCTT	0.453000														19			39		0	0	0.001287	0	0
RXFP4	339403	broad.mit.edu	37	1	155912019	155912019	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155912019G>A	uc010pgs.2	+	0	540	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	173						integral to membrane|plasma membrane	angiotensin type II receptor activity	p.V172fs*10(2)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCTGGTGACGGTGCCCACAG	0.682000														31			46		0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506184	27506184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:27506184G>A	uc002dov.2	-	15	2718	c.2678C>T	c.(2677-2679)cCa>cTa	p.P893L	GTF3C1_uc002dou.3_Missense_Mutation_p.P893L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	893						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGTGGACTGGGATTGGGGG	0.567000														16			9		0	0	0.000673	0	0
STOML3	161003	broad.mit.edu	37	13	39544509	39544509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:39544509G>A	uc001uwx.3	-	4	467	c.329C>T	c.(328-330)tCc>tTc	p.S110F	STOML3_uc010tez.2_Missense_Mutation_p.S101F	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	110						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AGTAGTTACGGAGTCTCTGGT	0.448000														47			74		0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121416052	121416052	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121416052C>T	uc001pxx.3	+	13	2094	c.1965C>T	c.(1963-1965)acC>acT	p.T655T		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	655					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AACGGCGGACCCCCCATGCCA	0.542000														20			15		0	0	0.003163	0	0
CCT2	10576	broad.mit.edu	37	12	69980054	69980054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:69980054C>T	uc001svb.1	+	1	102	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CCT2_uc010stl.1_5'UTR|MIR3913-1_uc021ram.1_5'Flank	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	3					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTTCAGGCGTCCCTTTCCCTT	0.443000											OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			24		0	0	0.003954	0	0
LAMA5	3911	broad.mit.edu	37	20	60890244	60890244	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:60890244G>A	uc002ycq.3	-	58	7954	c.7887C>T	c.(7885-7887)atC>atT	p.I2629I	LAMA5_uc021wfw.1_Silent_p.I2629I	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2629	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGTGCGATCTTCTTGC	0.642000														28			10		0	0	0.002450	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4409336	4409336	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:4409336G>A	uc002cwf.3	-	22	2744	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.F547F|CORO7-PAM16_uc002cwh.4_Silent_p.F767F|CORO7-PAM16_uc010uxh.2_Silent_p.F749F|CORO7-PAM16_uc010uxi.2_Silent_p.F682F|CORO7-PAM16_uc002cwi.1_Silent_p.F547F	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		TGCACTCCAGGAAGAAAGGGG	0.667000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			7		0	0	0.001984	0	0
PID1	55022	broad.mit.edu	37	2	229890639	229890639	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:229890639G>A	uc002vpr.4	-	2	500	c.462C>T	c.(460-462)gcC>gcT	p.A154A	PID1_uc002vps.4_Silent_p.A152A|PID1_uc002vpt.4_Silent_p.A121A|PID1_uc002vpu.4_Silent_p.A72A	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	154	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGCACTGTGGCCTCCCCTT	0.592000														42			29		0	0	0.005443	0	0
C6orf222	389384	broad.mit.edu	37	6	36288992	36288992	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36288992C>T	uc003oly.3	-	9	1786	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	536										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGATGATGATCTCCTCTAAGG	0.527000														0			4		0	0	0.001168	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398005	1398005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1398005G>A	uc002clk.2	+	31	3399	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K	BAIAP3_uc010uuz.2_Missense_Mutation_p.E1046K|BAIAP3_uc010uva.2_Missense_Mutation_p.E1018K|BAIAP3_uc021tag.1_Missense_Mutation_p.E1023K|BAIAP3_uc002clj.3_Missense_Mutation_p.E1063K|BAIAP3_uc010uvc.1_Missense_Mutation_p.E1010K	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	1081	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGTATACGACGAACTCTTCTA	0.642000														64			21		0	0	0.002780	0	0
FLJ43860	389690	broad.mit.edu	37	8	142504968	142504968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:142504968C>T	uc003ywi.2	-	3	559	c.478G>A	c.(478-480)Gag>Aag	p.E160K	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	160							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGTCTCCTCCAGGACGTCA	0.617000														8			10		0	0	0.000978	0	0
MED16	10025	broad.mit.edu	37	19	873482	873482	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:873482G>A	uc002lqd.1	-	10	2023	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	MED16_uc010drw.2_Silent_p.F449F|MED16_uc002lqe.3_Silent_p.F613F|MED16_uc002lqf.3_Silent_p.F613F|MED16_uc010xfz.2_Non-coding_Transcript|MED16_uc010xfv.1_Non-coding_Transcript|MED16_uc010xfw.1_Silent_p.F544F|MED16_uc010xfx.1_Silent_p.F469F|MED16_uc010xfy.1_Silent_p.F201F	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	624					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACAGCACGAAGTCGCCCA	0.612000														28			17		0	0	0.001523	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045523	142045523	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142045523C>T	uc003vxp.4	+	2	159	c.50_splice	c.e2-1	p.V17_splice	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCCCCGCAGTCCCCATGGAAA	0.478000														66			26		0	0	0.005443	0	0
ANXA13	312	broad.mit.edu	37	8	124710666	124710666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124710666G>A	uc003yqt.3	-	4	516	c.443C>T	c.(442-444)tCc>tTc	p.S148F	ANXA13_uc003yqu.3_Missense_Mutation_p.S107F	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	107					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AATGAGGACGGACTCATCTGT	0.602000														63			26		0	0	0.001271	0	0
FSTL5	56884	broad.mit.edu	37	4	162697192	162697192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:162697192C>T	uc003iqh.3	-	4	880	c.444G>A	c.(442-444)atG>atA	p.M148I	FSTL5_uc003iqi.3_Missense_Mutation_p.M147I|FSTL5_uc010iqv.3_Missense_Mutation_p.M147I	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	148						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCATATTTTTCATCTTGCTGT	0.289000														15			9		0	0	0.000673	0	0
SPP2	6694	broad.mit.edu	37	2	234969093	234969093	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234969093C>T	uc002vvk.1	+	3	499	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SPP2_uc010fyl.1_Silent_p.S58S	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	138					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCTGGTCCTCCTCCACGTCTG	0.567000														24			20		0	0	0.001523	0	0
C20orf195	79025	broad.mit.edu	37	20	62187896	62187896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62187896G>A	uc002yfj.3	+	1	972	c.880G>A	c.(880-882)Gag>Aag	p.E294K	C20orf195_uc021wgc.1_Missense_Mutation_p.E294K	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	294										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGGTGTACGAGCCCTGGAG	0.597000														117			56		0	0	0.003610	0	0
PLIN4	729359	broad.mit.edu	37	19	4511347	4511347	+	Silent	SNP	C	T	T	rs71263980		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4511347C>T	uc002mar.1	-	2	2583	c.2583G>A	c.(2581-2583)gtG>gtA	p.V861V	PLIN4_uc010dub.1_Intron	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	861	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCTTTGGCCACTTTCGCAG	0.577000														62			24		0	0	0.005443	0	0
EPPK1	83481	broad.mit.edu	37	8	144940391	144940391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144940391G>A	uc003zaa.1	-	0	7044	c.7031C>T	c.(7030-7032)gCc>gTc	p.A2344V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2344						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCCCGTGGCGATCTGGGC	0.692000														243			11		0	0	0.004007	0	0
CACNA1I	8911	broad.mit.edu	37	22	40064362	40064362	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40064362G>A	uc003ayc.3	+	23	4170	c.4170G>A	c.(4168-4170)ctG>ctA	p.L1390L	CACNA1I_uc003ayd.3_Silent_p.L1355L|CACNA1I_uc003aye.3_Silent_p.L1305L|CACNA1I_uc003ayf.3_Silent_p.L1270L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1390					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACAATGGACTGGATGCTGTTG	0.567000														15			6		0	0	0.001984	0	0
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:77789561G>A	uc003ugx.3	-	15	2880	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_uc003ugy.3_Missense_Mutation_p.P862S|MAGI2_uc010ldx.1_Missense_Mutation_p.P469S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	876						cell junction|synapse|synaptosome	phosphatase binding	p.P876S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532000														20			35		0	0	0.001287	0	0
KCNB2	9312	broad.mit.edu	37	8	73480462	73480462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73480462G>A	uc003xzb.3	+	1	1081	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	165					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)			GCGAGAAGGAGAAGAGTTTGA	0.458000														156			45		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13735964	13735964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13735964G>A	uc003jfd.2	-	66	11575	c.11533C>T	c.(11533-11535)Cgc>Tgc	p.R3845C	DNAH5_uc003jfc.2_Missense_Mutation_p.R13C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3845					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)					AGAAACTGGCGAAGCGAAGTC	0.473000									Kartagener syndrome					54			39		0	0	0.001951	0	0
CNTN4	152330	broad.mit.edu	37	3	2861227	2861227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2861227G>A	uc003bpc.3	+	6	755	c.416G>A	c.(415-417)gGa>gAa	p.G139E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.G139E|CNTN4_uc003bpd.1_Missense_Mutation_p.G139E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	139	Ig-like C2-type 2.				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	p.V139V(1)		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)		CGAGGTCAAGGAATGGTGCTA	0.408000														46			25		0	0	0.001512	0	0
GK5	256356	broad.mit.edu	37	3	141923617	141923617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141923617G>A	uc003euq.2	-	3	483	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	GK5_uc010hus.2_Non-coding_Transcript|GK5_uc010hut.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	111					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTGTGAAAATGATTTCCTGTT	0.313000														59			38		0	0	0.004878	0	0
TIE1	7075	broad.mit.edu	37	1	43786945	43786945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43786945C>T	uc001ciu.3	+	19	3290	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	TIE1_uc010oke.2_Missense_Mutation_p.S993F|TIE1_uc009vwq.3_Missense_Mutation_p.S994F|TIE1_uc010okg.2_Missense_Mutation_p.S683F|TIE1_uc021omo.1_Non-coding_Transcript	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	1038	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCAGCTGGTCCTTTGGAGTC	0.567000														43			38		0	0	0.002522	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995404	1995404	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:1995404G>A	uc021qsx.1	-	7	1209	c.978C>T	c.(976-978)ttC>ttT	p.F326F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	326	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F326F(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGATATTAATGAAGTCATTCT	0.488000														22			10		0	0	0.000673	0	0
LRIG1	26018	broad.mit.edu	37	3	66449435	66449435	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:66449435C>T	uc003dmx.3	-	9	1205	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	LRIG1_uc011bfu.2_Silent_p.V17V|LRIG1_uc003dmw.3_Silent_p.V63V|LRIG1_uc010hnz.3_Intron|LRIG1_uc010hoa.3_Silent_p.V421V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	397						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTCTCTTAGCCACAGACTTGA	0.537000														26			9		0	0	0.000443	0	0
ABCA12	26154	broad.mit.edu	37	2	215838741	215838741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215838741C>T	uc002vew.3	-	35	5714	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	ABCA12_uc002vev.3_Missense_Mutation_p.E1514K|ABCA12_uc010zjn.2_Missense_Mutation_p.E759K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1832					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCATTTTTCCAGACTGTCT	0.378000														31			17		0	0	0.004990	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516955	158516955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158516955C>T	uc010pil.2	-	0	941	c.941G>A	c.(940-942)gGa>gAa	p.G314E		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	314					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)					GGGCCCACTTCCTCTGCAATG	0.458000														61			23		0	0	0.003330	0	0
OR4K13	390433	broad.mit.edu	37	14	20502373	20502373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502373G>A	uc010tkz.2	-	0	545	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182H(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATCACAAGGGGAAGGTCACA	0.473000														46			23		0	0	0.002780	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160253700	160253700	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:160253700C>T	uc003iqg.4	+	10	1813	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	501					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTCGCTACTCCATTCCAGATC	0.393000														22			21		0	0	0.001523	0	0
OR8G1	26494	broad.mit.edu	37	11	124121234	124121234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124121234G>A	uc001pzx.3	+	1	809	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		ATGGACCAGGGGAAAGTATCC	0.378000														30			16		0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141806610	141806610	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141806610G>A	uc002tvj.1	-	10	2706	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	578					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)		GGCCAATTAGGAAACTGGTGG	0.428000										TSP Lung(27;0.18)				68			33		0	0	0.002445	0	0
AADACL2	344752	broad.mit.edu	37	3	151475197	151475197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151475197G>A	uc003ezc.3	+	4	1141	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.D128N	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	341						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGTCAACATGATCTCTTAAG	0.383000														64			38		0	0	0.001287	0	0
ANO7	50636	broad.mit.edu	37	2	242152025	242152025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242152025G>A	uc002wax.2	+	16	1977	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	625						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCTTGTTTGGAGTCCGCAAT	0.532000														13			10		0	0	0.001368	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	A	A	rs145920072	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13923485G>A	uc003jfd.2	-	3	384	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	114	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)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome					69			40		0	0	0.001287	0	0
MMP26	56547	broad.mit.edu	37	11	5009424	5009424	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5009424G>A	uc001lzv.3	+	1	1	c.-17_splice	c.e1-1			NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.						collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAAGCAGTGGGACAAATGAGG	0.493000											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		24			28		0	0	0.001271	0	0
OR4C12	283093	broad.mit.edu	37	11	50003373	50003373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:50003373G>A	uc010ria.2	-	0	699	c.665C>T	c.(664-666)tCt>tTt	p.S222F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTTCTTTAAAGATCTCAAGAT	0.403000														25			19		0	0	0.001216	0	0
KIAA0564	23078	broad.mit.edu	37	13	42460146	42460146	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:42460146G>A	uc001uyj.3	-	7	955	c.885C>T	c.(883-885)tcC>tcT	p.S295S	KIAA0564_uc001uyk.3_Silent_p.S295S	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	295						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTGTGGCAAAGGACAAGAGCT	0.328000														12			22		0	0	0.003330	0	0
PITPNB	23760	broad.mit.edu	37	22	28306962	28306962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:28306962G>A	uc011akh.2	-	2	265	c.193C>T	c.(193-195)Cac>Tac	p.H65Y	PITPNB_uc003adk.3_Missense_Mutation_p.H63Y|PITPNB_uc003adl.3_Missense_Mutation_p.H63Y	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	63					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						CTCTTTAGGTGATAAATTTTG	0.388000														44			32		0	0	0.004289	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356372	40356372	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:40356372G>A	uc003gva.1	+	4	1291	c.1275G>A	c.(1273-1275)acG>acA	p.T425T		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	425					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AAGTGCTGACGAGGAATATTG	0.498000														24			17		0	0	0.000743	0	0
TACR3	6870	broad.mit.edu	37	4	104640509	104640509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:104640509C>T	uc003hxe.1	-	0	465	c.324G>A	c.(322-324)tgG>tgA	p.W108*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	108						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)		CCAGGATGATCCAGATGACGA	0.582000														28			20		0	0	0.000958	0	0
CKM	1158	broad.mit.edu	37	19	45821172	45821172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45821172C>T	uc002pbd.3	-	2	432	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	87	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCAAAGAGTTCCTTGAAAACT	0.562000														28			22		0	0	0.002780	0	0
MYOM1	8736	broad.mit.edu	37	18	3134818	3134818	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:3134818G>A	uc002klp.3	-	15	2548	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	MYOM1_uc002klq.3_Silent_p.I738I	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	738						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						GAGCCTTGGGGATATCTGAGA	0.433000														42			13		0	0	0.003163	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:50003708G>A	uc010ria.2	-	0	364	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000														73			56		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48619044	48619044	+	Missense_Mutation	SNP	G	A	A	rs146418495		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48619044G>A	uc003ctz.2	-	48	4745	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1582	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCTCCAGGAAGAACCAAG	0.567000														29			18		0	0	0.000958	0	0
PCDH17	27253	broad.mit.edu	37	13	58298822	58298822	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:58298822C>T	uc001vhq.1	+	3	3766	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	PCDH17_uc010aec.1_Silent_p.F957F|PCDH17_uc001vhr.1_Silent_p.F47F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	958					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACAGTTCCCTGCAGCCA	0.443000														21			15		0	0	0.002450	0	0
FAT4	79633	broad.mit.edu	37	4	126411418	126411418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126411418G>A	uc003ifj.4	+	16	13441	c.13441G>A	c.(13441-13443)Gct>Act	p.A4481T	FAT4_uc011cgp.2_Missense_Mutation_p.A2722T|FAT4_uc003ifi.1_Missense_Mutation_p.A1958T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4481					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						GGTGTGCAAAGCTGGAAGTCC	0.612000														33			23		0	0	0.004656	0	0
NQO1	1728	broad.mit.edu	37	16	69745056	69745057	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:69745056_69745057CC>AA	uc002exp.3	-	5	838_839	c.647_648GG>TT	c.(646-648)tgg>tTT	p.W216F	NQO1_uc002exq.3_Missense_Mutation_p.W182F|NQO1_uc002exr.3_Missense_Mutation_p.W178F|NQO1_uc010vll.2_Missense_Mutation_p.W144F	NM_000903	NP_000894	P15559	NQO1_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 1 (NQO1), transcript variant 1, mRNA.	216					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	NAD(P)H dehydrogenase (quinone) activity|coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity	p.W216L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GTGTCTCATCCCAAATATTCTC	0.446000														173			8		0	0	0.004672	0	0
SPACA3	124912	broad.mit.edu	37	17	31323939	31323939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:31323939G>A	uc002hhs.1	+	2	497	c.422G>A	c.(421-423)gGg>gAg	p.G141E	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ACCAACAACGGGATCTTCCAG	0.592000														13			40		0	0	0.002222	0	0
PANX1	24145	broad.mit.edu	37	11	93911662	93911662	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:93911662A>T	uc001per.3	+	2	834	c.449A>T	c.(448-450)tAc>tTc	p.Y150F	PANX1_uc001peq.3_Missense_Mutation_p.Y150F	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	150					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACAAAGTTTACAACCGTGCA	0.498000														36			31		0	0	0.001512	0	0
TCF21	6943	broad.mit.edu	37	6	134210670	134210670	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:134210670G>A	uc003qei.4	+	0	412	c.135G>A	c.(133-135)gaG>gaA	p.E45E	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.E45E	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	45					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCAACTGCGAGAATGGGTCTC	0.592000														18			9		0	0	0.000443	0	0
IYD	389434	broad.mit.edu	37	6	150690271	150690271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:150690271G>A	uc003qnx.2	+	0	244	c.104G>A	c.(103-105)aGa>aAa	p.R35K	IYD_uc003qnv.2_Missense_Mutation_p.R35K|IYD_uc003qnu.2_Missense_Mutation_p.R35K|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	35					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GGGGAGCCTAGAACCAGGGCC	0.488000														48			37		0	0	0.004878	0	0
SCNN1B	6338	broad.mit.edu	37	16	23360097	23360097	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23360097C>T	uc002dln.3	+	1	353	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	59					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTGCTCTTCGCCGCCCTCG	0.597000														10			13		0	0	0.002450	0	0
AHSG	197	broad.mit.edu	37	3	186336351	186336351	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186336351G>C	uc003fqk.4	+	4	681	c.600G>C	c.(598-600)gaG>gaC	p.E200D		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	200	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCTATGTGGAGTTTACAGTGT	0.517000														34			12		0	0	0.001368	0	0
PARD3	56288	broad.mit.edu	37	10	34673118	34673118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:34673118G>A	uc010qej.2	-	7	1285	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	PARD3_uc010qep.2_Missense_Mutation_p.R275C|PARD3_uc010qeq.2_Missense_Mutation_p.R275C|PARD3_uc010qek.2_Missense_Mutation_p.R319C|PARD3_uc010qel.2_Missense_Mutation_p.R319C|PARD3_uc010qem.2_Missense_Mutation_p.R319C|PARD3_uc010qen.2_Missense_Mutation_p.R319C|PARD3_uc010qeo.2_Missense_Mutation_p.R319C|PARD3_uc001ixo.2_Missense_Mutation_p.R49C|PARD3_uc001ixr.2_Missense_Mutation_p.R319C|PARD3_uc001ixq.2_Missense_Mutation_p.R319C|PARD3_uc001ixp.2_Missense_Mutation_p.R319C|PARD3_uc001ixt.1_Missense_Mutation_p.R140C|PARD3_uc001ixu.2_Missense_Mutation_p.R275C|PARD3_uc001ixs.1_5'UTR	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	319	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R319C(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATTCTCACGAAAAAGATTT	0.378000														43			34		0	0	0.003271	0	0
LPA	4018	broad.mit.edu	37	6	161071386	161071386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:161071386C>T	uc003qtl.3	-	2	313	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2573	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGTGGTCCTA	0.418000														93			78		0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247768910	247768910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247768910C>T	uc010pyz.2	+	0	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8F(2)|p.S7I(1)		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)			AATGAGAGTTCCCTAATGGAT	0.468000														52			26		0	0	0.004656	0	0
GPR112	139378	broad.mit.edu	37	X	135428482	135428482	+	Missense_Mutation	SNP	G	A	A	rs143735478		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:135428482G>A	uc004ezu.1	+	5	2908	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	GPR112_uc010nsb.1_Missense_Mutation_p.E668K|GPR112_uc010nsc.1_Missense_Mutation_p.E640K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	873					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)					AGTGACAGACGAATCAGCACA	0.403000														14			102		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183673091	183673091	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183673091C>T	uc003ivd.1	+	18	3843	c.3768C>T	c.(3766-3768)gtC>gtT	p.V1256V	ODZ3_uc003ive.1_Silent_p.V669V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1256					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)		ATGCAGAAGTCGTCGCAGGGA	0.537000														22			15		0	0	0.004007	0	0
PHF3	23469	broad.mit.edu	37	6	64394364	64394364	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:64394364T>C	uc003pep.1	+	2	766	c.741T>C	c.(739-741)gaT>gaC	p.D247D	PHF3_uc010kaf.1_Silent_p.D247D|PHF3_uc003pem.2_Silent_p.D200D|PHF3_uc010kag.1_Silent_p.D159D|PHF3_uc010kah.1_Silent_p.D61D|PHF3_uc003pen.2_Silent_p.D159D|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Silent_p.D247D	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	247					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGAAATAGATGTGCCATCTC	0.358000														70			39		0	0	0.001287	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767596	18767596	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:18767596C>T	uc010exr.3	-	2	294	c.182G>A	c.(181-183)tGg>tAg	p.W61*	NT5C1B-RDH14_uc002rcy.3_Nonsense_Mutation_p.W121*|NT5C1B-RDH14_uc010yju.2_Nonsense_Mutation_p.W61*|NT5C1B-RDH14_uc002rcz.3_Nonsense_Mutation_p.W121*|NT5C1B-RDH14_uc010yjw.2_Nonsense_Mutation_p.W104*|NT5C1B-RDH14_uc010yjv.2_Nonsense_Mutation_p.W138*|NT5C1B-RDH14_uc010exs.3_Nonsense_Mutation_p.W121*|NT5C1B-RDH14_uc002rda.3_Nonsense_Mutation_p.W61*|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	121					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TATTCTAGACCATTGACTGCG	0.498000														29			18		0	0	0.004990	0	0
CNGA3	1261	broad.mit.edu	37	2	99013247	99013247	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99013247C>T	uc010fij.3	+	7	1767	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	CNGA3_uc002syt.3_Silent_p.F538F|CNGA3_uc002syu.3_Silent_p.F520F			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	538					signal transduction|visual perception	integral to membrane	cGMP binding	p.F538L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCACCCAGTTCGTGGTCCTCA	0.557000														57			24		0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13841216	13841216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13841216C>T	uc003jfd.2	-	33	5550	c.5508G>A	c.(5506-5508)atG>atA	p.M1836I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1836	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)					GTGTCCATATCATCTGAATTC	0.323000									Kartagener syndrome					46			21		0	0	0.003330	0	0
CXCR3	2833	broad.mit.edu	37	X	70836739	70836739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:70836739C>T	uc022bys.1	-	0	724	c.724G>A	c.(724-726)Gac>Aac	p.D242N	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.D195N|CXCR3_uc011mpx.2_Missense_Mutation_p.D242N	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	195					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	p.D195N(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGGCGCTCGTCGTGGTGGGCC	0.687000														7			19		0	0	0.002780	0	0
ETV7	51513	broad.mit.edu	37	6	36334427	36334427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36334427G>A	uc003omb.3	-	7	1280	c.1021C>T	c.(1021-1023)Ccg>Tcg	p.P341S	ETV7_uc003olz.2_Intron|ETV7_uc003oma.2_Intron|ETV7_uc003omc.3_Missense_Mutation_p.P286S|ETV7_uc010jwj.3_Missense_Mutation_p.P282S|ETV7_uc010jwi.3_Missense_Mutation_p.P264S|ETV7_uc010jwh.3_Missense_Mutation_p.P260S|ETV7_uc011dtl.2_Missense_Mutation_p.P190S	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	341					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCCCCTCACGGAGAGATTTCT	0.617000														36			26		0	0	0.001512	0	0
TACC2	10579	broad.mit.edu	37	10	123843897	123843897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123843897C>T	uc001lfv.3	+	3	2242	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P628S|TACC2_uc010qtv.2_Missense_Mutation_p.P628S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	628						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGAGACCATCCCAGCTCACA	0.577000														20			17		0	0	0.004007	0	0
NPAS4	266743	broad.mit.edu	37	11	66190194	66190194	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66190194G>A	uc001ohx.1	+	3	656	c.480G>A	c.(478-480)caG>caA	p.Q160Q	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	160					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCAGGCGCCAGAGTGCAGGCA	0.547000														27			24		0	0	0.003954	0	0
BSN	8927	broad.mit.edu	37	3	49699923	49699923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49699923C>T	uc003cxe.4	+	5	10759	c.10645C>T	c.(10645-10647)Cgg>Tgg	p.R3549W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3549					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACGGACCTCGGGCCCACGC	0.617000														30			19		0	0	0.001216	0	0
ARHGDIB	397	broad.mit.edu	37	12	15103629	15103629	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:15103629T>C	uc001rcq.1	-	1	122	c.18A>G	c.(16-18)ccA>ccG	p.P6P		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	6					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						CATGTGGCTCTGGGGCTTTTT	0.458000														64			5		0	0	0.001168	0	0
SARS	6301	broad.mit.edu	37	1	109770988	109770989	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109770988_109770989GG>TT	uc001dwu.2	+	2	322_323	c.222_223GG>TT	c.(220-225)gtggga>gtTTga	p.G75*		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	75					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AAGAGCCAGTGGGAGATGATGA	0.371000														533			12		0	0	0.004672	0	0
CDHR5	53841	broad.mit.edu	37	11	618097	618097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:618097C>T	uc001lql.3	-	13	2242	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.E659K|CDHR5_uc009ycd.3_Missense_Mutation_p.E653K|CDHR5_uc001lqk.3_Missense_Mutation_p.E465K|CDHR5_uc009ycc.3_Missense_Mutation_p.E493K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	659					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CGCTTGTCCTCCGAGGGGCCG	0.652000														14			8		0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	61835021	61835021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61835021G>A	uc001jky.3	-	36	5956	c.5618C>T	c.(5617-5619)tCa>tTa	p.S1873L	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.	1873	Ser-rich.				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						AACTGGAGATGAAGTTCGACT	0.428000														64			32		0	0	0.001786	0	0
CACNA1E	777	broad.mit.edu	37	1	181480509	181480509	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181480509G>A	uc009wxt.3	+	2	570	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CACNA1E_uc001gow.3_Silent_p.E125E|CACNA1E_uc009wxs.3_Silent_p.E125E|CACNA1E_uc009wxr.3_Silent_p.E32E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	125					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						CCCCACAGGAGAAGACAGAAC	0.502000														101			105		0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138320903	138320903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:138320903G>A	uc002tva.1	+	14	3161	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	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)		TGTGGAGGAGGAACACAATCT	0.413000														24			13		0	0	0.001368	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309432	22309432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22309432C>T	uc001wbx.2	+	0	112	c.11C>T	c.(10-12)tCc>tTc	p.S4F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		ATGATGATATCCTTGAGAGTT	0.353000														40			16		0	0	0.000958	0	0
DAPK1	1612	broad.mit.edu	37	9	90312085	90312085	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90312085C>T	uc004apc.3	+	21	2715	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	DAPK1_uc004apd.3_Silent_p.F859F|DAPK1_uc011ltg.2_Intron|DAPK1_uc011lth.2_Silent_p.F596F	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	859					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.L858L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCTCAGTTTCCTGAAGTCCC	0.493000									Chronic Lymphocytic Leukemia, Familial Clustering of					1			29		0	0	0.001061	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148743890	148743890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:148743890C>T	uc003ilf.3	+	1	167	c.167C>T	c.(166-168)gCc>gTc	p.A56V	ARHGAP10_uc003ile.1_Missense_Mutation_p.A56V	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	56	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CTGTCAGTGGCCCAGCGGAAG	0.358000														36			20		0	0	0.002780	0	0
MSTN	2660	broad.mit.edu	37	2	190922330	190922330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:190922330G>A	uc002urp.3	-	2	915	c.782C>T	c.(781-783)cCa>cTa	p.P261L		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	261					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GGATCTTTTTGGTGTGTCTGT	0.398000														26			20		0	0	0.001216	0	0
PRRT1	80863	broad.mit.edu	37	6	32118242	32118242	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32118242G>C	uc003nzu.3	-	3	403	c.138C>G	c.(136-138)gaC>gaG	p.D46E	PRRT1_uc003nzs.3_Missense_Mutation_p.T195S|PRRT1_uc003nzt.3_Missense_Mutation_p.T154S|PPT2_uc003nzw.3_5'Flank			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	154	Poly-His.				response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGTGCCCACAGTCCCCGCGTG	0.766000														7			7		0	0	0.004482	0	0
PTPRB	5787	broad.mit.edu	37	12	70964929	70964929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70964929G>A	uc001swb.4	-	10	2623	c.2593C>T	c.(2593-2595)Cac>Tac	p.H865Y	PTPRB_uc010sto.2_Missense_Mutation_p.H865Y|PTPRB_uc010stp.2_Missense_Mutation_p.H775Y|PTPRB_uc001swc.4_Missense_Mutation_p.H1083Y|PTPRB_uc001swa.4_Missense_Mutation_p.H995Y|PTPRB_uc001swd.4_Missense_Mutation_p.H1082Y|PTPRB_uc009zrr.2_Missense_Mutation_p.H962Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	865	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTACAAGGTGAAAAGGAGGA	0.458000														26			18		0	0	0.000958	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776180	77776180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77776180G>A	uc003yau.2	+	10	10617	c.10230G>A	c.(10228-10230)atG>atA	p.M3410I		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3361						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)			AGTGCCAGATGATGTTTACTG	0.423000										HNSCC(33;0.089)				15			7		0	0	0.001984	0	0
CXorf66	347487	broad.mit.edu	37	X	139038471	139038471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:139038471C>T	uc004fbb.3	-	2	692	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	224						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTGAGATTTCATTTTGTGGA	0.443000														16			67		0	0	0.003610	0	0
C6orf70	55780	broad.mit.edu	37	6	170173476	170173476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:170173476C>T	uc003qxg.1	+	12	1328	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	C6orf70_uc011ehb.1_Missense_Mutation_p.P306L|C6orf70_uc003qxh.1_Missense_Mutation_p.P432L|C6orf70_uc010kky.1_Missense_Mutation_p.P306L|C6orf70_uc003qxi.1_Missense_Mutation_p.P80L	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	432						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CGCTGTCATCCGGTTTTTCAG	0.463000														34			21		0	0	0.003330	0	0
FAT4	79633	broad.mit.edu	37	4	126337621	126337621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126337621G>A	uc003ifj.4	+	5	6862	c.6862G>A	c.(6862-6864)Gat>Aat	p.D2288N	FAT4_uc011cgp.2_Missense_Mutation_p.D586N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2288	Cadherin 22.				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						AAGAGATGATGATCGAGGATC	0.383000														85			76		0	0	0.003610	0	0
AXDND1	126859	broad.mit.edu	37	1	179354459	179354459	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:179354459C>T	uc001gmo.3	+	8	1215	c.828C>T	c.(826-828)gaC>gaT	p.D276D	AXDND1_uc001gmn.2_Silent_p.D64D|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.D234D	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	276										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCAGTGTGGACTGTGCAGACA	0.353000														60			44		0	0	0.003610	0	0
TXLNB	167838	broad.mit.edu	37	6	139609879	139609879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:139609879G>A	uc021zfy.1	-	1	323	c.158C>T	c.(157-159)cCc>cTc	p.P53L		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	53						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGAGATATCGGGGTGCACACT	0.532000														68			46		0	0	0.003610	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063402	247063402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247063402G>A	uc001ibv.2	-	9	1521	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	466	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)			AAACTGCTCGGGAGGTGGATA	0.353000														197			119		0	0	0.003610	0	0
TMCC2	9911	broad.mit.edu	37	1	205241102	205241102	+	Silent	SNP	C	T	T	rs150035205		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:205241102C>T	uc021pia.1	+	4	2635	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	TMCC2_uc010prf.2_Silent_p.F582F|TMCC2_uc001hca.3_Silent_p.F435F|TMCC2_uc001hcb.2_Silent_p.F420F|TMCC2_uc001hcc.2_Silent_p.F281F|TMCC2_uc001hcd.3_3'UTR	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	660						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCTGGTGTTCGTGTCCACCA	0.622000														60			30		0	0	0.002445	0	0
OR51S1	119692	broad.mit.edu	37	11	4869890	4869890	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4869890G>A	uc010qyo.2	-	0	549	c.549C>T	c.(547-549)acC>acT	p.T183T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	183					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)		AATAAGAATGGGTTAGGACCT	0.547000														58			32		0	0	0.001512	0	0
HHATL	57467	broad.mit.edu	37	3	42738351	42738351	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:42738351G>A	uc003clw.3	-	9	1176	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	HHATL_uc003clx.3_Silent_p.I343I	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	343					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCAGTCGTTGATGCCACGGT	0.582000														8			4		0	0	0.000248	0	0
COL6A5	256076	broad.mit.edu	37	3	130188205	130188205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:130188205G>A	uc010htj.1	+	37	7851	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.E492K|COL6A5_uc010htk.1_Missense_Mutation_p.E492K	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2453	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAATGACAAAGAATTAGAAGA	0.438000														21			27		0	0	0.003954	0	0
DGKB	1607	broad.mit.edu	37	7	14647068	14647068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:14647068G>A	uc003ssz.3	-	15	1614	c.1427C>T	c.(1426-1428)cCa>cTa	p.P476L	DGKB_uc011jxt.2_Missense_Mutation_p.P457L|DGKB_uc003sta.3_Missense_Mutation_p.P476L|DGKB_uc011jxu.2_Missense_Mutation_p.P475L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	476	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)	CCCTGGCATTGGTCCATTTCC	0.299000														41			21		0	0	0.003330	0	0
CNTN5	53942	broad.mit.edu	37	11	100064243	100064243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100064243C>T	uc001pga.3	+	14	2236	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	CNTN5_uc009ywv.2_Missense_Mutation_p.P578S|CNTN5_uc001pfz.3_Missense_Mutation_p.P578S|CNTN5_uc021qpb.1_Missense_Mutation_p.P578S|CNTN5_uc021qpc.1_Missense_Mutation_p.P504S|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	578	Ig-like C2-type 6.				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)		AGAACTTACTCCTAAAAGAAC	0.328000														13			9		0	0	0.000443	0	0
ACSS3	79611	broad.mit.edu	37	12	81647355	81647355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81647355G>A	uc001szl.1	+	14	1992	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	ACSS3_uc001szm.1_Missense_Mutation_p.R633Q|ACSS3_uc001szn.1_Missense_Mutation_p.R316Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	634						mitochondrion	ATP binding|acetate-CoA ligase activity	p.R634*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCTGCTTTTCGAAATGCAGTG	0.423000														59			34		0	0	0.002836	0	0
RBM28	55131	broad.mit.edu	37	7	127950946	127950946	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127950946G>A	uc003vmp.2	-	18	2299	c.2184C>T	c.(2182-2184)acC>acT	p.T728T	RBM28_uc011koj.1_Silent_p.T587T	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	728					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GGTTGAAGCGGGTTTCCGTCT	0.363000														111			45		0	0	0.002522	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342548	40342548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:40342548C>T	uc002rrx.3	-	9	2791	c.2767G>A	c.(2767-2769)Ggg>Agg	p.G923R	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.G918R|SLC8A1_uc002rsb.2_Missense_Mutation_p.G915R|SLC8A1_uc002rrz.3_Missense_Mutation_p.G910R|SLC8A1_uc002rsa.3_Missense_Mutation_p.G887R|SLC8A1_uc002rsd.4_Missense_Mutation_p.G887R	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	923					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G923V(1)|p.V922V(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCAGCACCCCCACATTGATG	0.557000														42			16		0	0	0.004990	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999863	45999863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45999863G>A	uc002zfl.1	-	0	619	c.593C>T	c.(592-594)tCa>tTa	p.S198L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	198	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.S198*(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGCATGAAGTGGAAGC	0.632000														74			43		0	0	0.002852	0	0
CUL5	8065	broad.mit.edu	37	11	107917082	107917082	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:107917082A>G	uc001pjv.3	+	2	887	c.220A>G	c.(220-222)Aag>Gag	p.K74E	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	74					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGAGTTTATTAAGCAAGCACA	0.318000														31			17		0	0	0.000958	0	0
REM2	161253	broad.mit.edu	37	14	23354069	23354069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23354069C>T	uc001whf.1	+	1	355	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_uc010tnd.1_Missense_Mutation_p.S89L	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	97					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612000														39			21		0	0	0.001882	0	0
PTPRC	5788	broad.mit.edu	37	1	198721378	198721378	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198721378G>A	uc001gur.1	+	30	3382	c.3202_splice	c.e30-1	p.E1068_splice	PTPRC_uc001gut.1_Splice_Site_p.E907_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1068	Tyrosine-protein phosphatase 2.				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						TTTTATCTAGGAAATCTGTGC	0.383000														50			21		0	0	0.005443	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528864	76528864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:76528864G>A	uc002fex.1	+	12	2286	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G712E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G577E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G640E|CNTNAP4_uc002few.2_Missense_Mutation_p.G688E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	713	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACCTACTGGGGAGGTTCTTCG	0.423000														72			51		0	0	0.003610	0	0
TH	7054	broad.mit.edu	37	11	2189730	2189730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:2189730C>T	uc001lvq.3	-	3	590	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TH_uc001lvp.3_Missense_Mutation_p.G187R|TH_uc001lvr.3_Missense_Mutation_p.G160R|TH_uc010qxj.2_Missense_Mutation_p.G164R|TH_uc001lvs.3_Missense_Mutation_p.G160R|TH_uc001lvt.3_Missense_Mutation_p.G164R|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	191					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTTGGGCCCCGCGGGGCTG	0.682000														13			6		0	0	0.001984	0	0
UBAC1	10422	broad.mit.edu	37	9	138831522	138831522	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138831522G>A	uc004cgt.3	-	7	1178	c.960C>T	c.(958-960)gcC>gcT	p.A320A		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	320	UBA 2.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CACTCACCGCGGCATTCTGCT	0.567000														9			41		0	0	0.002222	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395104	3395104	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3395104A>C	uc001akg.4	+	11	1990	c.1742A>C	c.(1741-1743)cAc>cCc	p.H581P	ARHGEF16_uc001aki.3_Missense_Mutation_p.H293P|ARHGEF16_uc001akj.3_Missense_Mutation_p.H293P|ARHGEF16_uc010nzh.2_Missense_Mutation_p.H285P	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	581	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCGTGCCCCACCCCTTCCAG	0.667000														23			17		0	0	0.001523	0	0
SART3	9733	broad.mit.edu	37	12	108930558	108930558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:108930558G>A	uc001tmz.1	-	9	1548	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_Missense_Mutation_p.S50F|SART3_uc010swx.1_Missense_Mutation_p.S402F|SART3_uc010swy.1_Missense_Mutation_p.S324F|SART3_uc010swz.1_Missense_Mutation_p.S438F|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	438					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCTTTACTGGAGTCTAACGG	0.473000									Porokeratosis					19			13		0	0	0.001855	0	0
COLEC12	81035	broad.mit.edu	37	18	333031	333031	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:333031A>T	uc002kkm.3	-	6	2144	c.1929T>A	c.(1927-1929)gtT>gtA	p.V643V		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	643	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.L642V(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGTTTATGAAAACAAGATGTG	0.368000														50			50		0	0	0.003610	0	0
SGCE	8910	broad.mit.edu	37	7	94259055	94259055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94259055C>T	uc011kid.1	-	2	427	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SGCE_uc003unm.2_Missense_Mutation_p.E70K|SGCE_uc003unl.2_Missense_Mutation_p.E70K|SGCE_uc003unn.2_Missense_Mutation_p.E70K|SGCE_uc011kic.1_Intron	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	70					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTGGAAATTCCCCCTTAAAA	0.348000														99			107		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052318	55052318	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:55052318G>A	uc003dhf.3	+	34	3009	c.2961G>A	c.(2959-2961)ggG>ggA	p.G987G	CACNA2D3_uc003dhg.1_Silent_p.G893G|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	987						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G987>?(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)		AGACTACAGGGAATATTGCTT	0.507000														11			6		0	0	0.001168	0	0
CASQ1	844	broad.mit.edu	37	1	160165270	160165270	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160165270T>G	uc010pja.2	+	4	854	c.597T>G	c.(595-597)gaT>gaG	p.D199E		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	199						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCGAGGATGCAGCTGAGG	0.557000														52			29		0	0	0.003755	0	0
SLC7A8	23428	broad.mit.edu	37	14	23600757	23600757	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23600757G>A	uc001wiz.3	-	7	1752	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Silent_p.F139F|SLC7A8_uc010tnk.2_Silent_p.F118F|SLC7A8_uc010tnl.2_Silent_p.F237F|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	342					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGCTCCAGCGAAGAACAGCC	0.607000														1			19		0	0	0.001216	0	0
PSG3	5671	broad.mit.edu	37	19	43382318	43382318	+	Silent	SNP	G	A	A	rs139949881		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43382318G>A	uc002ovd.1	-	1	315	c.177C>T	c.(175-177)ccC>ccT	p.P59P	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.P59P|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.P59P|PSG3_uc002ova.2_Silent_p.P59P|PSG3_uc002ouz.2_Silent_p.P59P|PSG3_uc002ovb.3_Silent_p.P59P	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	59	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TAAGATTCTGGGGCAAATTGT	0.463000														99			91		0	0	0.003610	0	0
RASAL1	8437	broad.mit.edu	37	12	113544998	113544998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113544998C>T	uc001tun.2	-	15	1865	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	RASAL1_uc010syp.2_Missense_Mutation_p.E521K|RASAL1_uc001tul.3_Missense_Mutation_p.E521K|RASAL1_uc001tum.2_Missense_Mutation_p.E521K|RASAL1_uc010syq.2_Missense_Mutation_p.E521K|RASAL1_uc001tuo.4_Missense_Mutation_p.E521K|RASAL1_uc010syr.2_3'UTR	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	521					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ATCCACAGTTCCTTGCCTTGG	0.617000														21			8		0	0	0.000443	0	0
DOCK4	9732	broad.mit.edu	37	7	111555930	111555930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:111555930C>T	uc003vfy.3	-	12	1365	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	DOCK4_uc003vfx.3_Missense_Mutation_p.G366R|DOCK4_uc003vga.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	366					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	p.V366L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAATGTCTCCGTGCAATAGC	0.353000														23			7		0	0	0.001984	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784537	30784537	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30784537G>A	uc002wxn.2	-	2	1426	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGCCTCAGAGAGGTTGGCGG	0.642000														20			8		0	0	0.003080	0	0
C14orf39	317761	broad.mit.edu	37	14	60928118	60928118	+	Silent	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:60928118T>G	uc001xez.4	-	12	1181	c.1071A>C	c.(1069-1071)ccA>ccC	p.P357P	C14orf39_uc010apo.3_Silent_p.P68P	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	357										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTGTTTCTGTGGGGTTAACA	0.274000														9			33		0	0	0.003271	0	0
KRT20	54474	broad.mit.edu	37	17	39036418	39036418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39036418C>T	uc002hvl.3	-	3	784	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	242	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACTTCTGCCTCATTTCATTCA	0.483000														22			68		0	0	0.003610	0	0
OR51A2	401667	broad.mit.edu	37	11	4976391	4976391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4976391C>T	uc010qyt.2	-	0	553	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D185D(1)		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)		TTCATGACATCCTGGTGGAGA	0.413000														10			15		0	0	0.002780	0	0
DKK2	27123	broad.mit.edu	37	4	107847025	107847025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:107847025C>T	uc003hyi.3	-	1	1009	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.V102M	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	102	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTCCGACACACCATGCAGGCC	0.512000														50			32		0	0	0.002445	0	0
PERP	64065	broad.mit.edu	37	6	138417525	138417525	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:138417525G>A	uc003qht.2	-	1	504	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.	107					apoptosis|cell adhesion	Golgi apparatus|desmosome|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCACTCTCAGGAAGACAAGCA	0.502000														24			19		0	0	0.002780	0	0
DAPK3	1613	broad.mit.edu	37	19	3964704	3964704	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3964704G>A	uc002lzc.1	-	1	442	c.348C>T	c.(346-348)gcC>gcT	p.A116A	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.A116A	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	116	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACTGGGTGGCCTCGTCCT	0.607000														61			19		0	0	0.001523	0	0
MYH4	4622	broad.mit.edu	37	17	10364263	10364263	+	Missense_Mutation	SNP	C	T	T	rs148182083		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10364263C>T	uc002gmn.3	-	11	1228	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	373	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTGCTCTTCCCTTTGCTTT	0.498000														9			62		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126372579	126372579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126372579C>T	uc003ifj.4	+	8	10408	c.10408C>T	c.(10408-10410)Cga>Tga	p.R3470*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R1768*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R948*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3470	Cadherin 33.				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						AGAATTAGATCGAGAAACCCT	0.448000														47			30		0	0	0.001271	0	0
AMPD1	270	broad.mit.edu	37	1	115215893	115215893	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115215893C>T	uc001efe.2	-	16	2233	c.2185_splice	c.e16-1	p.E729_splice	DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Splice_Site_p.E725_splice	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	696					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTTACTTTCTCCTATAAGAGA	0.418000														43			29		0	0	0.002096	0	0
NLRP1	22861	broad.mit.edu	37	17	5424903	5424903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:5424903G>A	uc002gci.3	-	12	4279	c.3724C>T	c.(3724-3726)Cat>Tat	p.H1242Y	NLRP1_uc002gcg.1_Missense_Mutation_p.H1246Y|NLRP1_uc002gch.4_Missense_Mutation_p.H1242Y|NLRP1_uc002gck.3_Missense_Mutation_p.H1242Y|NLRP1_uc002gcj.3_Missense_Mutation_p.H1212Y|NLRP1_uc002gcl.3_Missense_Mutation_p.H1212Y	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1242					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTCAGGATGGACGCGGTGG	0.552000														10			38		0	0	0.004878	0	0
ALS2	57679	broad.mit.edu	37	2	202589077	202589077	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:202589077G>A	uc002uyo.3	-	20	3809	c.3453C>T	c.(3451-3453)ttC>ttT	p.F1151F	ALS2_uc002uyp.4_Silent_p.F1151F|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1151					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						ACTGGCCAATGAACATACTAG	0.413000														40			25		0	0	0.002780	0	0
GAPVD1	26130	broad.mit.edu	37	9	128061327	128061327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:128061327C>T	uc004bpp.3	+	1	287	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	GAPVD1_uc004bpo.3_Missense_Mutation_p.R43C|GAPVD1_uc011lzs.1_Missense_Mutation_p.R43C|GAPVD1_uc004bpq.3_Missense_Mutation_p.R43C|GAPVD1_uc010mwx.3_Missense_Mutation_p.R43C|GAPVD1_uc004bpr.3_Missense_Mutation_p.R43C|GAPVD1_uc004bps.3_Missense_Mutation_p.R43C|GAPVD1_uc010mwy.1_5'Flank	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	43					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAAGTTGTATCGTACAGCATG	0.403000														10			55		0	0	0.003610	0	0
CHRM3	1131	broad.mit.edu	37	1	240071117	240071117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240071117G>A	uc021plc.1	+	0	366	c.366G>A	c.(364-366)atG>atA	p.M122I	CHRM3_uc001hyp.3_Missense_Mutation_p.M122I	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	122					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.M122I(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCATTTCAATGAATCTGTTTA	0.473000														42			47		0	0	0.003610	0	0
SIN3B	23309	broad.mit.edu	37	19	16989322	16989322	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:16989322C>T	uc002ney.2	+	19	3296	c.3273C>T	c.(3271-3273)gtC>gtT	p.V1091V	SIN3B_uc002nez.2_Silent_p.V1059V|SIN3B_uc010xpi.1_Silent_p.V649V|SIN3B_uc010eaj.1_Silent_p.V27V	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	1091					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCCCCTGGTCCTGCTCCGCC	0.677000														0			4		0	0	0.000248	0	0
OR4C16	219428	broad.mit.edu	37	11	55340049	55340049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55340049G>A	uc010rih.2	+	0	446	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCCTGGGTGGGATCCTGTGTG	0.502000														65			36		0	0	0.005524	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196825573G>A	uc002utj.4	-	17	2403	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	768	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						TCATAAAGACGAAGATAAGGG	0.403000														48			46		0	0	0.003214	0	0
OR6C2	341416	broad.mit.edu	37	12	55846641	55846641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55846641C>T	uc001sgz.1	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GTGATTCTGTCCTACTTGTAC	0.393000														76			35		0	0	0.004878	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64558777	64558777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:64558777C>T	uc003jtp.3	-	12	2447	c.1633G>A	c.(1633-1635)Gga>Aga	p.G545R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G166R	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACACAATCTCCCTGATAACAC	0.507000														8			6		0	0	0.004482	0	0
EVI5	7813	broad.mit.edu	37	1	92979374	92979374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:92979374G>A	uc010otf.2	-	18	2315	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	EVI5_uc001dox.3_Missense_Mutation_p.P758S	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	758	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCGTGCAAAGGAAAACCAACA	0.433000														42			38		0	0	0.005524	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145038046C>T	uc003ijo.4	-	4	434	c.318G>A	c.(316-318)acG>acA	p.T106T	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Silent_p.T73T|GYPA_uc003ijp.4_Silent_p.T74T|GYPA_uc010ioq.3_Silent_p.T93T|GYPA_uc010ior.3_Silent_p.T41T|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000														106			60		0	0	0.003610	0	0
GNL1	2794	broad.mit.edu	37	6	30515194	30515194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30515194G>A	uc003nqh.3	-	8	2604	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	GNL1_uc011dmi.2_Missense_Mutation_p.P202S|GNL1_uc011dmj.2_Missense_Mutation_p.P403S|GNL1_uc011dmk.2_Missense_Mutation_p.P60S	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	405	G.				T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGGGGGTAAGAAAG	0.562000														86			75		0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57766909	57766909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:57766909C>T	uc002yan.3	+	0	835	c.835C>T	c.(835-837)Cct>Tct	p.P279S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	279						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)					CAGAGAGGCTCCTTGGGACTC	0.652000														40			60		0	0	0.003610	0	0
PSG3	5671	broad.mit.edu	37	19	43243228	43243228	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43243228G>A	uc002oue.3	-	1	210	c.78C>T	c.(76-78)aaC>aaT	p.N26N	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	26					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGTTCCAGAAGTTTAAAAGTA	0.488000														31			75		0	0	0.003610	0	0
TRIM68	55128	broad.mit.edu	37	11	4621703	4621703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4621703G>A	uc001lzf.2	-	6	1551	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	421	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCACCCGGCGAGGAGGGACC	0.537000														38			12		0	0	0.001855	0	0
RGS8	85397	broad.mit.edu	37	1	182615949	182615949	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:182615949T>A	uc010pnw.1	-	6	722	c.464A>T	c.(463-465)gAg>gTg	p.E155V	RGS8_uc001gpn.1_Missense_Mutation_p.E155V|RGS8_uc001gpm.1_Missense_Mutation_p.E173V	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	155	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGAGTCTTTCTCCATGAGGCT	0.517000														59			94		0	0	0.003610	0	0
CCDC138	165055	broad.mit.edu	37	2	109404498	109404498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:109404498C>T	uc002ten.1	+	1	164	c.104C>T	c.(103-105)tCa>tTa	p.S35L	CCDC138_uc002teo.1_Missense_Mutation_p.S35L|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	35										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TATGATTTTTCAAATTTTTAT	0.269000														21			12		0	0	0.001368	0	0
ADAM33	80332	broad.mit.edu	37	20	3650192	3650192	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3650192C>T	uc002wit.3	-	20	2419	c.2332_splice	c.e20+1	p.D778_splice	ADAM33_uc002wiq.1_Intron|ADAM33_uc002wir.1_Splice_Site_p.D778_splice|ADAM33_uc002wis.3_Splice_Site_p.D274_splice|ADAM33_uc002wiu.3_Splice_Site_p.D752_splice	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	778					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCTCACTCACCCAGGGGCCA	0.662000														5			7		0	0	0.004482	0	0
NOX3	50508	broad.mit.edu	37	6	155757582	155757582	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:155757582G>A	uc003qqm.3	-	6	871	c.768C>T	c.(766-768)ccC>ccT	p.P256P		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	256	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ATTGAGGCACGGGGCATTGGG	0.463000														49			28		0	0	0.002445	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492222	63492222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:63492222G>A	uc010lyq.1	+	1	311	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	60						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TACAGACCTCGATACATAATG	0.323000														53			34		0	0	0.003271	0	0
DOCK1	1793	broad.mit.edu	37	10	128796375	128796375	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:128796375A>G	uc010qun.2	+	7	693	c.629A>G	c.(628-630)gAt>gGt	p.D210G	DOCK1_uc001ljt.3_Missense_Mutation_p.D210G	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	210					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGAACATAGATATTAACAGA	0.413000														17			16		0	0	0.004990	0	0
FDCSP	260436	broad.mit.edu	37	4	71099797	71099797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71099797C>T	uc003hfd.3	+	3	263	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	Homo sapiens follicular dendritic cell secreted protein (FDCSP), mRNA.	51	Pro-rich.					extracellular region		p.R51C(1)									ATATCCATTTCGCCCACTTCC	0.403000														74			71		0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844604	147844604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:147844604C>T	uc003weu.2	+	16	3092	c.2576C>T	c.(2575-2577)tCa>tTa	p.S859L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	859	Laminin G-like 3.				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)			GTGTCCTTTTCATTTGATGTG	0.463000										HNSCC(39;0.1)				144			46		0	0	0.003610	0	0
FCRL3	115352	broad.mit.edu	37	1	157660298	157660298	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157660298G>A	uc001fqz.4	-	8	1729	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.T205T|FCRL3_uc001frb.3_Silent_p.T479T|FCRL3_uc001frc.1_Silent_p.T479T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	479	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGCCCTGAGGGTGAGGACGG	0.532000														27			39		0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124311243	124311243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124311243G>A	uc001uft.4	+	23	3860	c.3835G>A	c.(3835-3837)Gaa>Aaa	p.E1279K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1279	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTTGCAAAAGAAGAATGGTC	0.468000														45			30		0	0	0.001786	0	0
NRBF2	29982	broad.mit.edu	37	10	64913929	64913929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:64913929C>T	uc001jmj.4	+	3	1039	c.815C>T	c.(814-816)cCt>cTt	p.P272L	NRBF2_uc010qip.2_Missense_Mutation_p.P262L	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	Homo sapiens nuclear receptor binding factor 2 (NRBF2), mRNA.	272					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)					CCAGAACTTCCTCTTATGGAG	0.423000														25			17		0	0	0.001216	0	0
COL11A1	1301	broad.mit.edu	37	1	103488462	103488462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:103488462C>T	uc001dum.3	-	7	1435	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.E361K|COL11A1_uc001dun.3_Missense_Mutation_p.E322K|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	361	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTTGTTTTCATATAGTGTA	0.323000														46			29		0	0	0.001061	0	0
ZNF208	7757	broad.mit.edu	37	19	22157451	22157451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22157451C>T	uc021urr.1	-	3	534	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	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)				TTATTATAACCTTCTTTGTGC	0.323000														92			61		0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94693290	94693290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:94693290G>A	uc011cdt.2	+	15	2923	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N	GRID2_uc011cdu.2_Missense_Mutation_p.D794N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	889					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACAGATGACGACAGCCCCCA	0.443000														61			34		0	0	0.004289	0	0
LCA5	167691	broad.mit.edu	37	6	80197298	80197298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:80197298G>A	uc003piy.3	-	8	2129	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	LCA5_uc003pix.3_Missense_Mutation_p.P506L	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	506					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTATGTTTTGGGGCTTCTCTC	0.388000														67			49		0	0	0.003610	0	0
LETMD1	25875	broad.mit.edu	37	12	51442931	51442931	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51442931C>T	uc009zlw.3	+	1	295	c.237C>T	c.(235-237)ttC>ttT	p.F79F	LETMD1_uc010smz.2_Silent_p.F79F|LETMD1_uc010sna.2_Silent_p.F79F|LETMD1_uc001rxm.3_Silent_p.F79F|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Silent_p.F23F|LETMD1_uc001rxt.3_5'UTR	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	79	LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTCGTCATTTCCCCCGCTTCT	0.418000														34			27		0	0	0.001512	0	0
CCDC93	54520	broad.mit.edu	37	2	118698861	118698861	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:118698861G>A	uc002tlj.3	-	18	1594	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	CCDC93_uc010fld.2_Nonsense_Mutation_p.R532*	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	476										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GCTATTTCTCGATTTCTTCGA	0.443000														29			20		0	0	0.001882	0	0
ALB	213	broad.mit.edu	37	4	74274503	74274503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74274503G>A	uc003hgs.4	+	3	536	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.E45K	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	155	Albumin 1.			E -> Q (in Ref. 18; AA sequence).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.N154fs*1(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCATGACAATGAAGAGACATT	0.368000														17			11		0	0	0.000978	0	0
PCNXL2	80003	broad.mit.edu	37	1	233398892	233398892	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:233398892C>T	uc001hvl.2	-	1	406	c.171G>A	c.(169-171)gcG>gcA	p.A57A		NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	57						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATACAATGATCGCATTTGGAG	0.338000														25			11		0	0	0.000673	0	0
CSF1R	1436	broad.mit.edu	37	5	149435821	149435821	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:149435821C>T	uc003lrl.3	-	16	2598	c.2403G>A	c.(2401-2403)agG>agA	p.R801R	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.R801R	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	801	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCATGATGTCCCTAGCCAGCC	0.577000														12			25		0	0	0.003954	0	0
GRM4	2914	broad.mit.edu	37	6	34059808	34059808	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:34059808G>A	uc003oir.4	-	1	951	c.588C>T	c.(586-588)tcC>tcT	p.S196S	GRM4_uc011dsn.2_Silent_p.S196S|GRM4_uc010jvh.3_Silent_p.S196S|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Silent_p.S115S|GRM4_uc011dsl.2_Silent_p.S56S|GRM4_uc003oiq.3_Silent_p.S63S|GRM4_uc011dsm.2_Silent_p.S27S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	196					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCACCACGCGGGAGAAGAAGT	0.642000														20			9		0	0	0.004482	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134836	81134836	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:81134836G>A	uc002fgh.1	-	44	7266	c.7266C>T	c.(7264-7266)ttC>ttT	p.F2422F	PKD1L2_uc002fgf.1_Silent_p.F224F|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2424	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TAATGCCCAGGAAACTGAGTA	0.527000														20			14		0	0	0.001855	0	0
SCN11A	11280	broad.mit.edu	37	3	38945566	38945566	+	Silent	SNP	G	A	A	rs149552611	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38945566G>A	uc021wvy.1	-	11	1831	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	544					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)	CTCCACAAGGGAGACAAGGCT	0.507000														17			15		0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	215844527	215844527	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215844527C>T	uc001hku.1	-	63	14307	c.13920G>A	c.(13918-13920)ctG>ctA	p.L4640L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4640	Fibronectin type-III 32.				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)		TTTGTACCTCCAGATGTGGAG	0.478000										HNSCC(13;0.011)				46			55		0	0	0.003610	0	0
FAM5B	57795	broad.mit.edu	37	1	177247805	177247805	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:177247805G>A	uc001glf.3	+	6	1431	c.1119G>A	c.(1117-1119)caG>caA	p.Q373Q	FAM5B_uc010pna.1_Silent_p.Q123Q|FAM5B_uc001glg.3_Silent_p.Q268Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	373						extracellular region		p.Q373L(1)		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						ACCGCTACCAGCAGCTGGGAG	0.597000														50			56		0	0	0.003610	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101929	9101929	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9101929G>A	uc001apo.3	-	4	778	c.486C>T	c.(484-486)ctC>ctT	p.L162L	SLC2A5_uc010nzy.2_Silent_p.L103L|SLC2A5_uc010nzz.2_Silent_p.L47L|SLC2A5_uc010oaa.2_Silent_p.L118L|SLC2A5_uc010oac.2_3'UTR|SLC2A5_uc001app.4_Silent_p.L162L	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	162					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCACCCCGAGAGCCCCCC	0.537000														29			12		0	0	0.000978	0	0
ULK4	54986	broad.mit.edu	37	3	41954347	41954347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:41954347G>A	uc003ckv.4	-	8	1049	c.848C>T	c.(847-849)gCt>gTt	p.A283V	ULK4_uc003ckw.2_Missense_Mutation_p.A283V|ULK4_uc003ckx.1_Missense_Mutation_p.A283V	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	283							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCAGCAAAAGCTTTCTTCCA	0.368000														33			29		0	0	0.003755	0	0
HTN1	3346	broad.mit.edu	37	4	70920148	70920148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70920148G>A	uc003hex.3	+	3	150	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_002159	NP_002150	P15515	HIS1_HUMAN	Homo sapiens histatin 1 (HTN1), mRNA.	28					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGACATCATGGGTATAGAAGA	0.274000														32			9		0	0	0.004482	0	0
BCL2L12	83596	broad.mit.edu	37	19	50172182	50172182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50172182C>T	uc002ppa.3	+	3	1259	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	BCL2L12_uc002ppb.3_Missense_Mutation_p.P192S	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	193					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GCTGAAATCTCCGCCCAGCCC	0.582000														23			26		0	0	0.003954	0	0
PER2	8864	broad.mit.edu	37	2	239168678	239168679	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:239168678_239168679CC>TT	uc002vyc.3	-	13	1795_1796	c.1558_1559GG>AA	c.(1558-1560)ggt>AAt	p.G520N	PER2_uc010znv.1_Missense_Mutation_p.G520N	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	520					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTCTTGTTACCATTTTTACAA	0.332000														10			5		0	0	0.004672	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020219	55020219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:55020219G>A	uc002lgn.3	+	0	499	c.142G>A	c.(142-144)Ggg>Agg	p.G48R		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	48					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGCCAGCCCGGGGGCGCCCCG	0.582000														22			9		0	0	0.001368	0	0
NLRP4	147945	broad.mit.edu	37	19	56363517	56363517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56363517G>A	uc002qmd.4	+	1	493	c.71G>A	c.(70-72)aGg>aAg	p.R24K		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	24	DAPIN.						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)		GAGGAGTTCAGGAAATTTAAA	0.433000														85			87		0	0	0.003610	0	0
SLIT3	6586	broad.mit.edu	37	5	168096814	168096814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168096814C>T	uc010jjg.3	-	34	4751	c.4331G>A	c.(4330-4332)gGc>gAc	p.G1444D	SLIT3_uc003mab.3_Missense_Mutation_p.G1437D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1437	EGF-like 9.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGCTAAAGCCGGGCTGGCA	0.577000														6			6		0	0	0.001984	0	0
EBF2	64641	broad.mit.edu	37	8	25899710	25899710	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:25899710T>A	uc003xes.2	-	1	454	c.189A>T	c.(187-189)aaA>aaT	p.K63N	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.K63N	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	63	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGAAGTTGGATTTCCTCAAGT	0.582000														6			20		0	0	0.000958	0	0
CD101	9398	broad.mit.edu	37	1	117576494	117576494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:117576494C>T	uc010oxb.1	+	8	2895	c.2837C>T	c.(2836-2838)cCt>cTt	p.P946L	CD101_uc009whd.3_Missense_Mutation_p.P946L|CD101_uc010oxc.1_Missense_Mutation_p.P946L|CD101_uc010oxd.1_Missense_Mutation_p.P884L	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	946					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCACGCTTCCTTCCAGGATC	0.463000														35			27		0	0	0.002096	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115695	15115695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:15115695G>A	uc003bzm.1	-	13	2563	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	ZFYVE20_uc010hek.1_Missense_Mutation_p.S650F	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	650	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGGTCTAAGGAAACCCCTGC	0.557000														39			27		0	0	0.001512	0	0
MUC13	56667	broad.mit.edu	37	3	124646518	124646518	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:124646518A>T	uc003ehq.2	-	1	411	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	124	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CATCATTTGGAGATGAAGCGG	0.423000														96			59		0	0	0.003610	0	0
FUT5	2527	broad.mit.edu	37	19	5867503	5867503	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5867503G>A	uc002mdo.4	-	1	405	c.234C>T	c.(232-234)atC>atT	p.I78I	FUT5_uc010duo.3_Silent_p.I78I|FUT5_uc021uno.1_Silent_p.I78I	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	78					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TCCACAGCAGGATCAGTAGGG	0.657000														22			18		0	0	0.001216	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980795	23980795	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23980795G>A	uc002zxh.4	-	4		c.3695C>T			GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Non-coding_Transcript|GUSBP11_uc002zxl.4_Non-coding_Transcript|GUSBP11_uc011aiz.2_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		CCTGTGGGTGGGGTGGGGGCT	0.597000														6			9		0	0	0.000443	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785223	1785223	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1785223A>T	uc002ltw.3	-	26	3701	c.3467T>A	c.(3466-3468)aTc>aAc	p.I1156N	ATP8B3_uc002ltv.3_Missense_Mutation_p.I1119N|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1156					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGTAGTCATGATGGCGTAGAA	0.587000														9			11		0	0	0.001368	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688231	130688231	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130688231G>A	uc011mao.2	-	7	723	c.678C>T	c.(676-678)agC>agT	p.S226S	PIP5KL1_uc004bsu.3_Silent_p.S23S	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	226	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCACCCAGCGGCTCACCTCGC	0.562000														6			29		0	0	0.001512	0	0
TGM2	7052	broad.mit.edu	37	20	36766714	36766714	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:36766714C>T	uc002xhr.3	-	9	1516	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	TGM2_uc010zvx.2_Silent_p.G391G|TGM2_uc010zvy.2_Silent_p.G412G|TGM2_uc002xhs.1_Silent_p.G448G|TGM2_uc002xht.3_Silent_p.G472G	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	472					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)	GCATGGCCATCCCTGTCTCCT	0.577000														33			65		0	0	0.003610	0	0
MSGN1	343930	broad.mit.edu	37	2	17997860	17997860	+	Silent	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:17997860T>G	uc010yjt.2	+	0	75	c.75T>G	c.(73-75)tcT>tcG	p.S25S		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	25					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCTGCTGTCTTCCTGGGACT	0.597000														39			23		0	0	0.002780	0	0
GALNTL5	168391	broad.mit.edu	37	7	151668105	151668105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:151668105G>A	uc003wkp.3	+	2	593	c.323G>A	c.(322-324)aGa>aAa	p.R108K	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	108						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATTATCAGTAGAAGCTTGGGC	0.328000														56			16		0	0	0.001216	0	0
COL4A5	1287	broad.mit.edu	37	X	107814643	107814643	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:107814643G>A	uc022ccg.1	+	7	587	c.385_splice	c.e7-1	p.G129_splice	COL4A5_uc004enz.1_Splice_Site_p.G129_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	129	Triple-helical region.		G -> E (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCTTCTAGGGAGAACGTGG	0.358000									Alport syndrome with Diffuse Leiomyomatosis					25			93		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659413	176659413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176659413G>A	uc001gkz.3	+	4	3442	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	PAPPA2_uc001gky.1_Missense_Mutation_p.E760K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	760					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						CCCCTGCAAGGAGACAGTGCC	0.557000														66			60		0	0	0.003610	0	0
GBP3	2635	broad.mit.edu	37	1	89480310	89480310	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:89480310G>A	uc001dmt.3	-	3	553	c.348C>T	c.(346-348)ttC>ttT	p.F116F	GBP3_uc010oss.2_Silent_p.F37F|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Silent_p.F116F	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	116						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CGGCCAGGGTGAAGATCCAGG	0.502000														52			43		0	0	0.003610	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316525	43316525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:43316525G>A	uc010dnk.3	+	6	965	c.743G>A	c.(742-744)gGa>gAa	p.G248E	SLC14A1_uc002lbi.4_Missense_Mutation_p.G60E|SLC14A1_uc010xcn.2_Missense_Mutation_p.G192E|SLC14A1_uc002lbf.4_Missense_Mutation_p.G192E|SLC14A1_uc002lbg.4_Intron|SLC14A1_uc010xco.2_Missense_Mutation_p.G87E|SLC14A1_uc002lbh.4_Missense_Mutation_p.G84E|SLC14A1_uc002lbj.4_Missense_Mutation_p.G248E|SLC14A1_uc002lbk.4_Missense_Mutation_p.G192E|SLC14A1_uc021ujg.1_Missense_Mutation_p.G192E	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	192						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCAGCCACAGGACATTACAAT	0.468000														52			35		0	0	0.002836	0	0
POU4F2	5458	broad.mit.edu	37	4	147561703	147561703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:147561703G>A	uc003ikv.3	+	1	1221	c.973G>A	c.(973-975)Gag>Aag	p.E325K		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	325	POU-specific.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E325D(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ATGGCTCGAGGAGGCCGAGAA	0.597000														35			19		0	0	0.001882	0	0
COL2A1	1280	broad.mit.edu	37	12	48377917	48377917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48377917G>A	uc001rqu.3	-	28	2075	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P563S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	632	Triple-helical region.				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)	TCTTTGCCAGGAAGACCCTAG	0.582000														14			9		0	0	0.000673	0	0
MYT1L	23040	broad.mit.edu	37	2	1983324	1983324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1983324G>A	uc002qxe.3	-	6	885	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	MYT1L_uc002qxd.3_Missense_Mutation_p.P20S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	20					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTCCACGGGAACTGCAGAG	0.443000														23			21		0	0	0.001882	0	0
XKR6	286046	broad.mit.edu	37	8	11058138	11058138	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:11058138G>A	uc003wtk.1	-	0	738	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	237						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGATCCACACGGAGAGGCGAC	0.746000														4			13		0	0	0.004007	0	0
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179730620C>T	uc002une.2	-	16	2716	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	CCDC141_uc002unf.1_Silent_p.K345K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478000														89			74		0	0	0.003610	0	0
LOC646214	646214	broad.mit.edu	37	15	21937842	21937842	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:21937842G>A	uc010tzj.1	-	0		c.2898C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GCATGCCAGTGAATTCTCCAG	0.433000														152			30		0	0	0.002445	0	0
TLN2	83660	broad.mit.edu	37	15	63054609	63054609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:63054609C>T	uc002alb.4	+	35	4918	c.4918C>T	c.(4918-4920)Cat>Tat	p.H1640Y	TLN2_uc002alc.4_Missense_Mutation_p.H33Y|TLN2_uc002ald.3_Missense_Mutation_p.H33Y	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1640					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGACATTCCCATACAGTGTC	0.562000														51			31		0	0	0.003271	0	0
MIR320D2	100302169	broad.mit.edu	37	X	140008356	140008356	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140008356C>T	uc022cfg.1	-	0		c.29G>A								Homo sapiens microRNA 320d-2 (MIR320D2), microRNA.																		CCCAGCTTTTCCTGACTCCAA	0.338000														1			16		0	0	0.004990	0	0
MC2R	4158	broad.mit.edu	37	18	13885422	13885422	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:13885422G>A	uc002ksp.1	-	1	273	c.96C>T	c.(94-96)ttC>ttT	p.F32F	MC2R_uc021uhs.1_Silent_p.F32F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	32					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGGAAATTGTGAAAAATATCT	0.408000														22			23		0	0	0.001882	0	0
CYC1	1537	broad.mit.edu	37	8	145151587	145151587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145151587C>T	uc003zaz.4	+	4	755	c.712C>T	c.(712-714)Cct>Tct	p.P238S	CYC1_uc003zay.3_Missense_Mutation_p.P179S	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	238					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.P238T(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTACTTTCCTGGCCAGGC	0.577000														31			34		0	0	0.003755	0	0
NTRK1	4914	broad.mit.edu	37	1	156851296	156851296	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156851296C>T	uc001fqh.1	+	16	2309	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A	NTRK1_uc001fqf.1_Silent_p.A715A|NTRK1_uc009wsi.1_Silent_p.A450A|NTRK1_uc001fqi.1_Silent_p.A745A|NTRK1_uc009wsk.1_Silent_p.A748A	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	751	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGCCACGTGCCTGCCCACCAG	0.662000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				3			8		0	0	0.004482	0	0
LY9	4063	broad.mit.edu	37	1	160769557	160769557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160769557G>A	uc001fwu.3	+	1	189	c.139G>A	c.(139-141)Gga>Aga	p.G47R	LY9_uc001fwt.3_Missense_Mutation_p.G47R|LY9_uc010pjs.1_Missense_Mutation_p.G47R|LY9_uc001fwv.3_Missense_Mutation_p.G47R|LY9_uc001fww.3_Missense_Mutation_p.G47R|LY9_uc001fwy.1_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	47					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGAGCCTCTGGAAAGGACTC	0.507000														19			34		0	0	0.003755	0	0
ZFHX3	463	broad.mit.edu	37	16	72830485	72830485	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72830485C>T	uc002fck.3	-	8	6769	c.6096G>A	c.(6094-6096)ctG>ctA	p.L2032L	ZFHX3_uc002fcl.3_Silent_p.L1118L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2032					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTGGGGCCTCAGTGGGTACA	0.592000														64			43		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41559082	41559082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41559082C>T	uc002yyq.1	-	13	3207	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N	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.	919	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTCAATATCGTAGCCTGTG	0.413000														26			10		0	0	0.000978	0	0
KIDINS220	57498	broad.mit.edu	37	2	8933996	8933996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:8933996G>A	uc002qzc.2	-	11	1402	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	KIDINS220_uc010yiv.1_Missense_Mutation_p.P173L|KIDINS220_uc002qzd.2_Missense_Mutation_p.P365L|KIDINS220_uc010yiw.1_Missense_Mutation_p.P408L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	407					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)					AATATTATAAGGAGTCTCGCC	0.388000														33			26		0	0	0.003954	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058733	79058733	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:79058733G>A	uc002bej.4	-	18	3731	c.3520C>T	c.(3520-3522)Ctg>Ttg	p.L1174L	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1174					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCAGGACAGGCTGGGGAGC	0.617000														6			9		0	0	0.000673	0	0
OR14C36	127066	broad.mit.edu	37	1	248512712	248512712	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248512712C>T	uc010pzl.2	+	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I212V(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCATCTTTATCATCAGGTCTT	0.512000														45			53		0	0	0.003610	0	0
HNF4G	3174	broad.mit.edu	37	8	76471257	76471257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:76471257G>A	uc003yaq.3	+	8	1237	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	HNF4G_uc003yar.3_Missense_Mutation_p.E360K	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	323					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTACTTCAGGAAATGCTATT	0.338000														81			45		0	0	0.002522	0	0
POTEE	445582	broad.mit.edu	37	2	131976461	131976461	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:131976461G>A	uc002tsn.2	+	0	538	c.486G>A	c.(484-486)agG>agA	p.R162R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	162							ATP binding										TCATGCTCAGGGACACTGACG	0.587000														116			27		0	0	0.004878	0	0
PURA	5813	broad.mit.edu	37	5	139494291	139494291	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:139494291C>T	uc003lfa.3	+	0	584	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_005859	NP_005850	Q00577	PURA_HUMAN	Homo sapiens purine-rich element binding protein A (PURA), mRNA.	175					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGTCAACCGGGGGCCTG	0.652000														5			11		0	0	0.001368	0	0
IL18R1	8809	broad.mit.edu	37	2	103013104	103013104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103013104G>A	uc002tbw.4	+	10	1534	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	IL18R1_uc010ywd.2_Missense_Mutation_p.E306K|IL18R1_uc010fiy.3_Missense_Mutation_p.E462K|IL18R1_uc010ywc.2_Missense_Mutation_p.E461K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	462	TIR.				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						TGGACTCCATGAAGCATTGGT	0.343000														38			22		0	0	0.001523	0	0
HOXC10	3226	broad.mit.edu	37	12	54379160	54379160	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54379160C>T	uc001sen.3	+	0	215	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	39					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F39S(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGAGTGACTTCAATTGCGGGG	0.647000														16			28		0	0	0.001061	0	0
SHE	126669	broad.mit.edu	37	1	154459121	154459121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154459121C>T	uc001ffb.3	-	3	1087	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	355										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCACTGTCTCCTCCCTGAAG	0.567000														46			47		0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34148524	34148524	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:34148524G>A	uc004ddg.3	-	0	1924	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	624										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATTCCTGATGGATTCTTCAT	0.438000														3			26		0	0	0.004656	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164227	150164227	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150164227C>T	uc003whj.3	+	1	771	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	147						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCAAGATTTCATTGAAAAAA	0.448000														32			31		0	0	0.001786	0	0
CHST15	51363	broad.mit.edu	37	10	125805437	125805438	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125805437_125805438GG>AA	uc001lhn.3	-	1	1025_1026	c.291_292CC>TT	c.(289-294)atcctt>atTTtt	p.L98F	CHST15_uc001lhm.3_Missense_Mutation_p.L98F|CHST15_uc010que.2_Missense_Mutation_p.L98F|CHST15_uc001lho.3_Missense_Mutation_p.L98F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	98					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCCCCAGAAAGGATGTAAGAAG	0.495000														46			29		0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	141135811	141135812	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141135811_141135812CC>TT	uc002tvj.1	-	67	11547_11548	c.10575_10576GG>AA	c.(10573-10578)ggggac>ggAAac	p.D3526N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3526	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3525A(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)		GAAACACAGTCCCCATTGGCAC	0.396000										TSP Lung(27;0.18)				38			17		0	0	0.004672	0	0
OR2L2	26246	broad.mit.edu	37	1	248201644	248201644	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248201644C>T	uc001idw.3	+	0	171	c.75C>T	c.(73-75)ttC>ttT	p.F25F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	25					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)			TTGGCCTTTTCGTATTCACCC	0.378000														104			63		0	0	0.003610	0	0
LRRK2	120892	broad.mit.edu	37	12	40714883	40714883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:40714883C>T	uc001rmg.4	+	34	5184	c.5063C>T	c.(5062-5064)tCt>tTt	p.S1688F	LRRK2_uc009zjw.3_Missense_Mutation_p.S526F|LRRK2_uc001rmi.3_Missense_Mutation_p.S521F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1688					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTGAGAACTCTGAAATTATC	0.393000														61			44		0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103467519	103467519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:103467519G>A	uc001dum.3	-	23	2458	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P702S|COL11A1_uc001dun.3_Missense_Mutation_p.P663S|COL11A1_uc009weh.3_Missense_Mutation_p.P586S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	702	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L713L(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTGGACCAGGAAGACCCTAT	0.348000														37			32		0	0	0.005524	0	0
FOXA3	3171	broad.mit.edu	37	19	46375805	46375805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46375805C>T	uc002pdr.3	+	1	739	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	181					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GTGGCGCGTTCCCCAGACAAG	0.582000														25			12		0	0	0.004007	0	0
SCN11A	11280	broad.mit.edu	37	3	38913691	38913691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38913691C>T	uc021wvy.1	-	19	3687	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1163					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)	TACCTTCATTCCTTCAAACTG	0.453000														85			51		0	0	0.003610	0	0
CNOT1	23019	broad.mit.edu	37	16	58592446	58592446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:58592446G>A	uc002env.3	-	17	2556	c.2263C>T	c.(2263-2265)Cca>Tca	p.P755S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P755S|CNOT1_uc002enx.3_Missense_Mutation_p.P755S|CNOT1_uc002enz.1_Missense_Mutation_p.P184S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	755					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAAAGGGGTGGAAATGCTTTT	0.498000														16			11		0	0	0.001855	0	0
LIPF	8513	broad.mit.edu	37	10	90438260	90438260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:90438260G>A	uc001kfg.2	+	9	1133	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D	LIPF_uc001kfh.2_Missense_Mutation_p.G317D|LIPF_uc010qmt.2_Missense_Mutation_p.G350D|LIPF_uc010qmu.2_Missense_Mutation_p.G307D	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	340					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GTGTGGAACGGTGGCAAGGAC	0.448000														76			37		0	0	0.005524	0	0
OR10A2	341276	broad.mit.edu	37	11	6891759	6891759	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6891759G>A	uc001meu.1	+	0	774	c.774G>A	c.(772-774)aaG>aaA	p.K258K		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	258			K -> T (in dbSNP:rs7926083).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGAGGGCAAGAAGCTGCTAT	0.438000														59			44		0	0	0.003610	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098004	56098004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:56098004G>A	uc002rzi.3	-	10	1672	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	EFEMP1_uc002rzj.3_Nonsense_Mutation_p.Q391*|EFEMP1_uc010ypc.2_Nonsense_Mutation_p.Q253*	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	391	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTATTGACTGGGGCAGTTCT	0.453000														28			17		0	0	0.004007	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49211794	49211794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49211794G>A	uc003cwh.3	+	2	734	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	KLHDC8B_uc003cwi.1_Missense_Mutation_p.G40R	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	167						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCCTGCTATGGGGCCTCCAC	0.612000														28			14		0	0	0.000958	0	0
CDH1	999	broad.mit.edu	37	16	68857521	68857521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68857521C>T	uc002ewg.1	+	12	2280	c.2156C>T	c.(2155-2157)gCt>gTt	p.A719V	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.A658V	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	719					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGAATTCTTGCTTTGCTAAGT	0.443000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					25			13		0	0	0.001368	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403525	69403526	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69403525_69403526GG>AA	uc021xov.1	-	5	1453_1454	c.1410_1411CC>TT	c.(1408-1413)cgccat>cgTTat	p.H471Y		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	471					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						GCTCCTTTATGGCGCATGACAA	0.490000														15			51		0	0	0.004672	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111801	42111801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42111801C>T	uc001zok.4	+	22	2738	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S	MAPKBP1_uc010bci.3_Missense_Mutation_p.P812S|MAPKBP1_uc010udb.2_Missense_Mutation_p.P651S|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P812S|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P319S|MAPKBP1_uc010bck.3_Missense_Mutation_p.P29S|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P319S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	818								p.P812S(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)		AGCCTCGGTCCCCAGCCCAGC	0.612000														39			21		0	0	0.004656	0	0
VANGL2	57216	broad.mit.edu	37	1	160385896	160385896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160385896G>A	uc001fwb.2	+	3	415	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	VANGL2_uc001fwc.2_Missense_Mutation_p.R39Q	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	39					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGGGGGCCGAGGGGACAAG	0.642000														47			17		0	0	0.000958	0	0
DNAH10	196385	broad.mit.edu	37	12	124272467	124272467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124272467G>A	uc001uft.4	+	9	1380	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	452	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGGAAGATCGGTGGGAGTTT	0.582000														5			8		0	0	0.003080	0	0
AADAC	13	broad.mit.edu	37	3	151545418	151545418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151545418C>T	uc003eze.3	+	4	748	c.658C>T	c.(658-660)Cct>Tct	p.P220S		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	220					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTAATTTATCCTGCCCTTCA	0.348000														33			23		0	0	0.003330	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784598	140784598	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140784598C>T	uc003lkh.2	+	0	2079	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.L693L	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	694					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)			CCCTCTACCTCGTTGTGGCTG	0.597000														14			38		0	0	0.001706	0	0
PAK3	5063	broad.mit.edu	37	X	110435809	110435809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110435809G>A	uc010npv.1	+	10	1090	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	PAK3_uc010npt.1_Missense_Mutation_p.E319K|PAK3_uc010npu.1_Missense_Mutation_p.E319K|PAK3_uc004eoy.1_Missense_Mutation_p.E74K|PAK3_uc004eoz.2_Missense_Mutation_p.E319K|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.E340K|PAK3_uc004epa.2_Missense_Mutation_p.E334K	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	334	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	p.T355T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTCATGAGGGAAAATAAGAA	0.308000										TSP Lung(19;0.15)				1			18		0	0	0.001216	0	0
COL1A2	1278	broad.mit.edu	37	7	94052287	94052287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94052287G>A	uc003ung.1	+	39	2893	c.2422G>A	c.(2422-2424)Ggt>Agt	p.G808S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	808			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGCCCTCCTGGTCCCCCTGG	0.527000										HNSCC(75;0.22)				127			36		0	0	0.002222	0	0
SCN11A	11280	broad.mit.edu	37	3	38936397	38936397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38936397C>T	uc021wvy.1	-	14	2661	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	821					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G821E(2)		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)	TTCTAAGTTTCCATTTCTTTC	0.448000														29			12		0	0	0.003163	0	0
NUDT4	11163	broad.mit.edu	37	12	93793086	93793087	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:93793086_93793087CC>TT	uc010sup.2	+	4	875_876	c.477_478CC>TT	c.(475-480)tccctt>tcTTtt	p.L160F	NUDT4_uc001tcm.3_Missense_Mutation_p.L159F|NUDT4_uc001tcn.3_Missense_Mutation_p.L107F|NUDT4_uc010suq.2_Missense_Mutation_p.L108F|NUDT4_uc001tco.3_Missense_Mutation_p.L107F	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	159					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CAGTCCCTTCCCTTCCGGATAA	0.475000														172			13		0	0	0.004672	0	0
STAB1	23166	broad.mit.edu	37	3	52546974	52546974	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52546974G>A	uc003dej.3	+	29	3232	c.3158_splice	c.e29+1	p.R1053_splice		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1053	FAS1 3.				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)		AACCTGGTCAGGTGGGGCCGC	0.687000														10			6		0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776596	77776596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77776596C>T	uc003yau.2	+	10	11033	c.10646C>T	c.(10645-10647)tCc>tTc	p.S3549F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3500						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)			CCTTCCCTTTCCTTGCCTTCA	0.507000										HNSCC(33;0.089)				70			25		0	0	0.003330	0	0
LAMA3	3909	broad.mit.edu	37	18	21399891	21399891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:21399891G>A	uc002kuq.3	+	18	2320	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	LAMA3_uc002kur.3_Missense_Mutation_p.R745Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	745					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	p.R745Q(2)		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)	AGAGACCTTCGATTTGGATTT	0.443000														34			26		0	0	0.005443	0	0
KLKB1	3818	broad.mit.edu	37	4	187172987	187172987	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:187172987G>A	uc003iyy.3	+	9	1187	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	KLKB1_uc011clc.2_Silent_p.L170L|KLKB1_uc011cld.2_Silent_p.L334L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	372	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTTACTCTTTGAGATTGTGTA	0.423000														60			36		0	0	0.004878	0	0
TCRA	0	broad.mit.edu	37	14	22362746	22362746	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22362746C>T	uc021rpj.1	+	0	177	c.6C>T	c.(4-6)ctC>ctT	p.L2L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		CAGCCATGCTCCTGCTGCTCG	0.537000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			13		0	0	0.001855	0	0
LRCH2	57631	broad.mit.edu	37	X	114347894	114347894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:114347894C>T	uc010nqe.3	-	20	2214	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	LRCH2_uc004epz.3_Missense_Mutation_p.R711K	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	728	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAACAAAGTCTTTCCTGGAG	0.328000														5			13		0	0	0.002450	0	0
SPRR4	163778	broad.mit.edu	37	1	152944435	152944435	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152944435G>A	uc001fav.1	+	1	132	c.69G>A	c.(67-69)gtG>gtA	p.V23V	SPRR4_uc021ozm.1_Silent_p.V23V	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	23	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCAGCAAGTGAAGCAGCCTT	0.572000														36			23		0	0	0.003954	0	0
ZEB1	6935	broad.mit.edu	37	10	31810200	31810200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31810200C>T	uc001ivs.4	+	6	2000	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F	ZEB1_uc001ivr.4_Missense_Mutation_p.S428F|ZEB1_uc010qef.2_Missense_Mutation_p.S428F|ZEB1_uc009xlj.1_Missense_Mutation_p.S572F|ZEB1_uc010qeg.1_Missense_Mutation_p.S505F|ZEB1_uc009xlk.1_Missense_Mutation_p.S428F|ZEB1_uc001ivu.4_Missense_Mutation_p.S647F|ZEB1_uc010qeh.2_Missense_Mutation_p.S579F|ZEB1_uc001ivv.4_Missense_Mutation_p.S626F|ZEB1_uc001ivt.4_Missense_Mutation_p.S428F|ZEB1_uc009xlo.2_Missense_Mutation_p.S629F|ZEB1_uc009xlp.3_Missense_Mutation_p.S630F	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	646					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)				GAACCATCTTCTCCTGAACCA	0.408000														24			21		0	0	0.001882	0	0
MMP20	9313	broad.mit.edu	37	11	102479721	102479721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:102479721G>A	uc001phc.3	-	4	771	c.758C>T	c.(757-759)cCc>cTc	p.P253L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	253					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAATCCATAGGGATTCTTGTA	0.468000														52			32		0	0	0.002836	0	0
CD163L1	283316	broad.mit.edu	37	12	7550916	7550916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7550916C>T	uc010sge.2	-	6	1729	c.1703G>A	c.(1702-1704)aGt>aAt	p.S568N	CD163L1_uc001qsy.3_Missense_Mutation_p.S558N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	558	SRCR 5.					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						TCCCCATCCACTGTGTTCACA	0.388000														46			27		0	0	0.001271	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105967543	105967543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:105967543C>T	uc001pjc.1	+	5	985	c.839C>T	c.(838-840)tCt>tTt	p.S280F	AASDHPPT_uc010rvn.1_Non-coding_Transcript|AASDHPPT_uc001pjd.1_Missense_Mutation_p.S133F|AASDHPPT_uc021qqa.1_5'Flank	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	280					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TTAATGTCATCTGCCGTTCCC	0.378000														39			28		0	0	0.001061	0	0
CACNG7	59284	broad.mit.edu	37	19	54418665	54418665	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54418665C>T	uc002qcr.2	+	2	425	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_uc010era.2_Silent_p.L110L	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	110					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|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607000														20			17		0	0	0.004990	0	0
UNC13B	10497	broad.mit.edu	37	9	35295908	35295908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:35295908C>T	uc003zwr.3	+	7	1034	c.742C>T	c.(742-744)Cca>Tca	p.P248S	UNC13B_uc010mkl.1_Missense_Mutation_p.P248S|UNC13B_uc003zwq.3_Missense_Mutation_p.P248S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	248					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTGATTATCCAGAGCGGCG	0.483000														2			6		0	0	0.001168	0	0
SLC5A11	115584	broad.mit.edu	37	16	24883514	24883514	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24883514T>C	uc002dmu.3	+	4	577	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	SLC5A11_uc002dms.3_Missense_Mutation_p.F52L|SLC5A11_uc010vcd.2_Missense_Mutation_p.F116L|SLC5A11_uc002dmt.3_Missense_Mutation_p.F52L|SLC5A11_uc010vce.2_Missense_Mutation_p.F81L|SLC5A11_uc010bxt.3_Missense_Mutation_p.F52L	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	116					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGCCTGGATCTTCCTACCCAT	0.517000														164			90		0	0	0.003610	0	0
PIGQ	9091	broad.mit.edu	37	16	632972	632972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:632972C>T	uc002cho.3	+	9	1759	c.1621C>T	c.(1621-1623)Ccg>Tcg	p.P541S	PIGQ_uc010bqw.3_Silent_p.C561C|PIGQ_uc002chn.3_Silent_p.C561C|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Missense_Mutation_p.P111S|PIGQ_uc010uuj.2_3'UTR	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	541					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCGCCCTGTGCCGCAAGCTGT	0.652000														28			24		0	0	0.002780	0	0
IGBP1	3476	broad.mit.edu	37	X	69366643	69366643	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:69366643A>T	uc004dxv.3	+	2	1142	c.643A>T	c.(643-645)Ata>Tta	p.I215L	IGBP1_uc004dxw.3_Missense_Mutation_p.I215L	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	215					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGACCAGGAAATAAAGATCCT	0.408000														6			12		0	0	0.001855	0	0
ZNF292	23036	broad.mit.edu	37	6	87967604	87967604	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:87967604T>A	uc003plm.4	+	7	4298	c.4257T>A	c.(4255-4257)ccT>ccA	p.P1419P		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACAGCCTTCTCTTCTTG	0.438000														84			68		0	0	0.003610	0	0
RBM45	129831	broad.mit.edu	37	2	178988960	178988960	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:178988960T>A	uc002ulv.3	+	7	1267	c.1175T>A	c.(1174-1176)cTt>cAt	p.L392H		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	394	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAAGAAAGACTTTTTATTGTG	0.338000														59			29		0	0	0.001512	0	0
FGFR2	2263	broad.mit.edu	37	10	123244952	123244952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123244952C>T	uc021pzz.1	-	15	2799	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	FGFR2_uc021pzv.1_Missense_Mutation_p.E606K|FGFR2_uc021pzw.1_Missense_Mutation_p.E603K|FGFR2_uc021pzx.1_Missense_Mutation_p.E629K|FGFR2_uc021pzy.1_Missense_Mutation_p.E719K|FGFR2_uc010qtl.2_Missense_Mutation_p.E602K|FGFR2_uc010qtm.2_Missense_Mutation_p.E601K|FGFR2_uc021qaa.1_Missense_Mutation_p.E719K|FGFR2_uc021qab.1_Missense_Mutation_p.E630K|FGFR2_uc021qac.1_Missense_Mutation_p.E647K|FGFR2_uc001lfg.4_Missense_Mutation_p.E326K|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	718	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGTGTCCTTCCTTCAGCAGC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					50			48		0	0	0.003610	0	0
RDH13	112724	broad.mit.edu	37	19	55568048	55568048	+	Nonsense_Mutation	SNP	G	A	A	rs147006931	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55568048G>A	uc002qio.3	-	2	498	c.313C>T	c.(313-315)Cga>Tga	p.R105*	RDH13_uc002qip.2_Nonsense_Mutation_p.R34*|RDH13_uc010yfq.1_Non-coding_Transcript|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	105							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GCAAACTCTCGGATAGACTTG	0.572000														31			14		0	0	0.002450	0	0
GNAT3	346562	broad.mit.edu	37	7	80117914	80117914	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:80117914G>A	uc011kgu.2	-	2	240	c.240C>T	c.(238-240)tcC>tcT	p.S80S	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	80					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TAGCTAGGATGGATTGCAATG	0.358000														23			4		0	0	0.000248	0	0
CD33	945	broad.mit.edu	37	19	51729189	51729189	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51729189C>T	uc002pwa.2	+	2	589	c.549C>T	c.(547-549)gcC>gcT	p.A183A	CD33_uc010eos.1_Silent_p.A183A|CD33_uc010eot.1_Silent_p.A56A|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	183	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTCAGCTGCCCCCACCTCCC	0.622000														39			22		0	0	0.003330	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414677	105414677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105414677G>A	uc010axc.1	-	6	7231	c.7111C>T	c.(7111-7113)Cct>Tct	p.P2371S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2271S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2371						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)			TCAGCGGAAGGGGGCTGAACG	0.662000														20			80		0	0	0.003610	0	0
SALL2	6297	broad.mit.edu	37	14	21992346	21992346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21992346G>A	uc001wbe.3	-	1	1798	c.1516C>T	c.(1516-1518)Cct>Tct	p.P506S	SALL2_uc010tly.2_Missense_Mutation_p.P504S|SALL2_uc010tlz.1_Missense_Mutation_p.P369S|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P371S|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	506							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGAAAGCAGGGAGTCCTGGA	0.562000														22			4		0	0	0.000248	0	0
ALG8	79053	broad.mit.edu	37	11	77823783	77823783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:77823783G>A	uc001oza.1	-	7	876	c.811C>T	c.(811-813)Cct>Tct	p.P271S	ALG8_uc001oyz.1_Missense_Mutation_p.P271S	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	271					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CTCTTGAAAGGAAAGAGTCGG	0.413000														27			16		0	0	0.000743	0	0
TKTL2	84076	broad.mit.edu	37	4	164394716	164394716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:164394716C>T	uc003iqp.4	-	0	332	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	57						cytoplasm	metal ion binding|transketolase activity	p.T56T(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)				GTTTATACTTCATCGTGTGGA	0.577000														16			7		0	0	0.001984	0	0
MYO5B	4645	broad.mit.edu	37	18	47390738	47390738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:47390738C>T	uc002leb.2	-	27	3904	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	MYO5B_uc002lea.2_Missense_Mutation_p.E347K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1206					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)		TTCTCTGACTCCAGCTCTTGC	0.582000														76			58		0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	131861884	131861884	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:131861884G>A	uc003ytd.4	-	9	2632	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAATCAAAATGGATGCAAAGA	0.443000										HNSCC(32;0.087)				26			27		0	0	0.002096	0	0
ATG2A	23130	broad.mit.edu	37	11	64662858	64662858	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64662858G>A	uc001obx.3	-	39	5599	c.5484C>T	c.(5482-5484)tcC>tcT	p.S1828S	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Silent_p.S593S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1828							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TATCCTGCAGGGAGCGGGAGA	0.682000														12			13		0	0	0.001855	0	0
TFIP11	24144	broad.mit.edu	37	22	26895212	26895212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26895212G>A	uc003acr.2	-	7	1561	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	TFIP11_uc003acs.2_Missense_Mutation_p.T396I|TFIP11_uc003act.2_Missense_Mutation_p.T396I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	396					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						CTCGTCCAGGGTGAGGGGGTT	0.607000														17			15		0	0	0.003163	0	0
SPEF2	79925	broad.mit.edu	37	5	35814644	35814644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35814644G>A	uc003jjo.3	+	36	5569	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K	SPEF2_uc003jjr.3_Missense_Mutation_p.E875K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1820					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)			ACATACAGAGGAAAAGAAATG	0.313000														54			34		0	0	0.001287	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421925	153421925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:153421925C>T	uc004fjz.4	+	4	934	c.901C>T	c.(901-903)Cct>Tct	p.P301S		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	301					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTTCCACCCTTTGATGGC	0.542000														19			86		0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51266196	51266196	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51266196C>T	uc011bds.2	+	17	1775	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	584	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCTCATCTTCCAGCGCAGCA	0.507000														33			20		0	0	0.000958	0	0
FAT3	120114	broad.mit.edu	37	11	92523162	92523162	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92523162G>A	uc001pdj.4	+	6	4406	c.4389G>A	c.(4387-4389)ccG>ccA	p.P1463P		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1463	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)				TCTCTCAGCCGAATTACGATG	0.413000										TCGA Ovarian(4;0.039)				223			125		0	0	0.003610	0	0
IL29	282618	broad.mit.edu	37	19	39788685	39788685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39788685G>A	uc002okv.3	+	2	428	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	111					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCAGCCCTGGAGGACGTCCT	0.672000														23			20		0	0	0.001523	0	0
BMPER	168667	broad.mit.edu	37	7	34118759	34118759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:34118759G>A	uc011kap.2	+	12	1743	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	457	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTTCCACATCGACCTGGATGG	0.652000														31			15		0	0	0.003163	0	0
NLRP13	126204	broad.mit.edu	37	19	56424543	56424543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56424543C>T	uc010ygg.2	-	4	665	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	214							ATP binding	p.E213Q(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)		CGCTGCAGTTCCTCATGTTCG	0.512000														93			49		0	0	0.003610	0	0
SYT4	6860	broad.mit.edu	37	18	40854122	40854122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:40854122G>A	uc002law.3	-	1	641	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.S73L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	91						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATGCAATGAATTCTTTGG	0.398000														37			24		0	0	0.002780	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564933	39564933	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39564933C>T	uc021txj.1	+	1		c.354C>T								Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA.																		TCAGGGACTCCAGCTGGGCCT	0.582000														0			4		0	0	0.000248	0	0
GRM8	2918	broad.mit.edu	37	7	126746568	126746568	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:126746568G>A	uc003vlr.2	-	1	1020	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.Q237*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	237					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCGAGATCTGGGTGAAGGCC	0.488000										HNSCC(24;0.065)				31			7		0	0	0.004482	0	0
AGRN	375790	broad.mit.edu	37	1	981387	981387	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:981387C>T	uc001ack.2	+	15	2774	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	908					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTGTGAGTTCGGTGCGCGGT	0.657000														18			24		0	0	0.003330	0	0
CD163L1	283316	broad.mit.edu	37	12	7556422	7556422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7556422C>T	uc010sge.2	-	5	1173	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	CD163L1_uc001qsy.3_Missense_Mutation_p.D373N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	373	SRCR 4.					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						TTACTTCCATCTGCTAGTCGC	0.453000														40			19		0	0	0.001882	0	0
DVL1	1855	broad.mit.edu	37	1	1275457	1275457	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1275457G>A	uc001aer.4	-	7	917	c.870C>T	c.(868-870)gcC>gcT	p.A290A	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Silent_p.A7A|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	290	PDZ.				Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCGTCAGCGGCCACAGCCC	0.637000														24			14		0	0	0.003163	0	0
AK309922	0	broad.mit.edu	37	10	49313220	49313220	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:49313220G>A	uc009xny.1	-	2		c.496C>T								Homo sapiens cDNA, FLJ99963.																		AGGGGAGAGAGCCTGTGATGG	0.473000														63			28		0	0	0.001485	0	0
TRIM60	166655	broad.mit.edu	37	4	165962177	165962177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:165962177G>A	uc003iqy.1	+	2	1123	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	TRIM60_uc010iqx.1_Missense_Mutation_p.R318Q|TRIM60_uc021xty.1_Missense_Mutation_p.R318Q	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	318	B30.2/SPRY.					intracellular	zinc ion binding	p.R318Q(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAGCTGTGCGATATGAAAGA	0.413000														60			48		0	0	0.003214	0	0
C2orf71	388939	broad.mit.edu	37	2	29295461	29295461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29295461G>A	uc002rmt.2	-	0	1667	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	556					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACAGGGCACAGGGACAAACTT	0.597000														34			14		0	0	0.003163	0	0
VANGL2	57216	broad.mit.edu	37	1	160385668	160385668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160385668C>T	uc001fwb.2	+	2	340	c.41C>T	c.(40-42)tCg>tTg	p.S14L	VANGL2_uc001fwc.2_Missense_Mutation_p.S14L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	14					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTACAAGTCGGGCCACTCC	0.677000														27			12		0	0	0.001855	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718317	103718317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:103718317G>A	uc001vpy.4	-	0	880	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	95					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACGGCCTGGAGCGGGAGGATG	0.547000														14			39		0	0	0.001951	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212553	50212553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50212553C>T	uc001zxu.3	-	17	1955	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	ATP8B4_uc010ber.3_Missense_Mutation_p.D478N|ATP8B4_uc010ufd.2_Missense_Mutation_p.D415N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	605					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGTACTTGTCATCCAGGTCT	0.448000														33			23		0	0	0.002780	0	0
FUT11	170384	broad.mit.edu	37	10	75533490	75533491	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75533490_75533491CC>GT	uc001jva.3	+	1	1294_1295	c.1251_1252CC>GT	c.(1249-1254)ccccac>ccGTac	p.H418Y	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.H418Y	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	418					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TCTTTGAGCCCCACATTGCCCA	0.599000														28			30		0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10408756G>A	uc002gmo.3	-	19	2341	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000														14			54		0	0	0.003610	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160714961	160714961	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:160714961G>A	uc002ubb.4	-	15	2369	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	LY75-CD302_uc010fos.3_Silent_p.G765G|LY75-CD302_uc002ubc.4_Silent_p.G765G	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	765	C-type lectin 4.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										AGAAATGCCAGCCTCTTCGCC	0.368000														33			27		0	0	0.001061	0	0
LYZL2	119180	broad.mit.edu	37	10	30915168	30915168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30915168C>T	uc001ivk.3	-	2	315	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	Homo sapiens lysozyme-like 2 (LYZL2), mRNA.	55					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GTTGTAGCCGCTCTCATAATA	0.557000														27			13		0	0	0.003163	0	0
abParts	0	broad.mit.edu	37	14	106452697	106452697	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106452697C>T	uc021ser.1	-	2607		c.45263G>A								Parts of antibodies, mostly variable regions.																		ACGGCCGTGTCGTCAGATCTC	0.557000														26			101		0	0	0.003610	0	0
PDS5A	23244	broad.mit.edu	37	4	39871032	39871032	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39871032G>A	uc003guv.4	-	21	3027	c.2487C>T	c.(2485-2487)tcC>tcT	p.S829S		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	829					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTACTTCAGGGGAAACCTCTT	0.303000														105			60		0	0	0.003610	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505599	186505599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186505599G>A	uc003fqs.3	+	9	1046	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	EIF4A2_uc003fqu.3_Missense_Mutation_p.G337E|EIF4A2_uc003fqv.3_Missense_Mutation_p.G241E|EIF4A2_uc003fqw.3_Missense_Mutation_p.G241E|EIF4A2_uc011bsb.2_3'UTR	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	336	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.G336W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CAGGCTCGCGGGATTGATGTG	0.383000			T	BCL6	NHL									42			27		0	0	0.005443	0	0
SCN9A	6335	broad.mit.edu	37	2	167085308	167085308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167085308G>A	uc010fpl.3	-	21	4407	c.4066C>T	c.(4066-4068)Cgt>Tgt	p.R1356C	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTCGGAACGATTTGGAACT	0.403000														120			90		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92495116	92495116	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92495116C>A	uc001pdj.4	+	3	3781	c.3764C>A	c.(3763-3765)cCa>cAa	p.P1255Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1255	Cadherin 12.				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)				CCCCAGTTCCCAGAGAAGGTC	0.488000										TCGA Ovarian(4;0.039)				263			10		0.00136819	0.00285024	0.001368	1	0
CSMD1	64478	broad.mit.edu	37	8	2813223	2813223	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:2813223G>A	uc022aqr.1	-	63	10272	c.9882C>T	c.(9880-9882)ttC>ttT	p.F3294F	CSMD1_uc011kwj.2_Silent_p.F2624F|CSMD1_uc010lrg.3_Silent_p.F1186F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3295	Sushi 28.					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)		AGGTGTAGCCGAAAGTAGGAA	0.502000														22			77		0	0	0.003610	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558775	129558775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129558775G>A	uc009zyl.1	-	8	3273	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	TMEM132D_uc001uia.2_Missense_Mutation_p.S520F	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	982						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTGCGAGGAGGCAAAGTT	0.493000														62			55		0	0	0.003610	0	0
CUX2	23316	broad.mit.edu	37	12	111744858	111744859	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111744858_111744859CC>TA	uc001tsa.2	+	10	1146_1147	c.992_993CC>TA	c.(991-993)tcc>tTA	p.S331L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	331						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGGCATCCGCCAACCAGA	0.688000														10			5		0	0	0.004672	0	0
ODZ1	10178	broad.mit.edu	37	X	123779147	123779147	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:123779147C>T	uc010nqy.3	-	9	1786	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ODZ1_uc011muj.2_Silent_p.E573E|ODZ1_uc004euj.3_Silent_p.E574E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	574	EGF-like 2.				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						AGTGTCCTTTCTCGTATTCTC	0.502000														14			89		0	0	0.003610	0	0
UBE2M	9040	broad.mit.edu	37	19	59068131	59068131	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:59068131G>A	uc002qtl.4	-	3	865	c.270C>T	c.(268-270)ccC>ccT	p.P90P	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	90					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCACCTTGGGGGGATCATGCG	0.577000														37			23		0	0	0.003954	0	0
ZEB1	6935	broad.mit.edu	37	10	31810519	31810519	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31810519C>T	uc001ivs.4	+	6	2319	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	ZEB1_uc001ivr.4_Silent_p.I534I|ZEB1_uc010qef.2_Silent_p.I534I|ZEB1_uc009xlj.1_Silent_p.I678I|ZEB1_uc010qeg.1_Silent_p.I611I|ZEB1_uc009xlk.1_Silent_p.I534I|ZEB1_uc001ivu.4_Silent_p.I753I|ZEB1_uc010qeh.2_Silent_p.I685I|ZEB1_uc001ivv.4_Silent_p.I732I|ZEB1_uc001ivt.4_Silent_p.I534I|ZEB1_uc009xlo.2_Silent_p.I735I|ZEB1_uc009xlp.3_Silent_p.I736I	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	752					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)				GGTCAACTATCACTAGTGTTT	0.423000														23			17		0	0	0.004990	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248004713C>T	uc001idn.1	-	0	486	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(2)|p.L161P(1)		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)			ACCTGGAAATCATCAGGGAAG	0.557000														66			29		0	0	0.001271	0	0
SV2B	9899	broad.mit.edu	37	15	91810784	91810784	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:91810784G>A	uc002bqv.3	+	9	2011	c.1120_splice	c.e9-1	p.V374_splice	SV2B_uc002bqt.3_Splice_Site_p.V374_splice|SV2B_uc002bqu.4_Splice_Site|SV2B_uc010uqv.2_Splice_Site_p.V223_splice	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	374					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATGGGTTGTAGGTCTGGGATA	0.443000														203			142		0	0	0.003610	0	0
DOCK10	55619	broad.mit.edu	37	2	225670001	225670001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:225670001G>A	uc010fwz.1	-	35	4212	c.3973C>T	c.(3973-3975)Cga>Tga	p.R1325*	DOCK10_uc002vob.2_Nonsense_Mutation_p.R1319*|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Nonsense_Mutation_p.R179*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1325							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGTCAAATCGAAGAGTTGAG	0.398000														91			54		0	0	0.003610	0	0
LRRC6	23639	broad.mit.edu	37	8	133627318	133627318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133627318C>T	uc003ytk.3	-	7	1014	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	LRRC6_uc022bbp.1_Missense_Mutation_p.E314K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	314	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCTGCTTTTCGTTATCTTTC	0.318000														50			68		0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21231943	21231943	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21231943G>A	uc002red.3	-	25	7925	c.7797C>T	c.(7795-7797)gcC>gcT	p.A2599A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2599					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGACTTCAAAGGCAGGCATGG	0.433000														309			190		0	0	0.003610	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569655	161569655	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:161569655G>A	uc021pdi.1	+	6		c.1133G>A				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAAAAGAGGGGAATtgttaaa	0.393000														38			15		0	0	0.002450	0	0
FMN2	56776	broad.mit.edu	37	1	240497240	240497240	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240497240T>C	uc010pye.2	+	12	4875	c.4650T>C	c.(4648-4650)ttT>ttC	p.F1550F	FMN2_uc010pyd.2_Silent_p.F1546F|FMN2_uc010pyf.1_Silent_p.F192F|FMN2_uc010pyg.2_Silent_p.F142F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1546	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGAAATTTTGATGAGGTAA	0.299000														43			7		0	0	0.001984	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569231	140569231	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140569231G>A	uc003liw.1	+	1	2337	c.2337G>A	c.(2335-2337)ggG>ggA	p.G779G	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	780					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGGGGTGGGAAAGAAATAG	0.438000														18			33		0	0	0.004878	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	T	T	rs145610800		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234545533C>T	uc002vur.3	+	0	411	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	125					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)	TTATTTTTTTCGCATTGCAGG	0.363000														80			43		0	0	0.003610	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833777	61833777	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61833777G>A	uc002yeh.3	-	3	1809	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	YTHDF1_uc011aaq.2_Silent_p.S455S	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	505	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGTGTCCCGGGAGTTTGTGA	0.478000														48			12		0	0	0.003163	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621241	41621241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:41621241G>A	uc003gvz.4	+	5	659	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	LIMCH1_uc003gvt.1_Missense_Mutation_p.R81Q|LIMCH1_uc003gwe.4_Missense_Mutation_p.R240Q|LIMCH1_uc003gvu.4_Missense_Mutation_p.R240Q|LIMCH1_uc003gvv.4_Missense_Mutation_p.R240Q|LIMCH1_uc003gvw.4_Missense_Mutation_p.R240Q|LIMCH1_uc003gvx.4_Missense_Mutation_p.R240Q|LIMCH1_uc003gvy.4_Missense_Mutation_p.R81Q|LIMCH1_uc003gwa.4_Missense_Mutation_p.R81Q|LIMCH1_uc011byu.2_Missense_Mutation_p.R86Q|LIMCH1_uc003gwc.4_Missense_Mutation_p.R86Q|LIMCH1_uc003gwd.4_Missense_Mutation_p.R86Q|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.R88Q	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	240	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTGCCTCATCGGAAGCTGCCA	0.507000														136			90		0	0	0.003610	0	0
ADAM21	8747	broad.mit.edu	37	14	70924745	70924745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:70924745G>A	uc021rvq.1	+	0	529	c.529G>A	c.(529-531)Gag>Aag	p.E177K	ADAM21_uc001xmd.3_Missense_Mutation_p.E177K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	177					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGCTTAACAGAGAAGGAAGT	0.443000														29			62		0	0	0.003610	0	0
IGSF10	285313	broad.mit.edu	37	3	151164382	151164382	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151164382G>A	uc011bod.2	-	3	3387	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1129					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)			TTTCAGTCCTGAAATATTTTA	0.413000														86			55		0	0	0.003610	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123907	99123907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99123907C>T	uc003uqv.3	+	5	1368	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.S415F|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.S415F|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.S342F|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.S151F	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	415					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGGGTGAGTTCCCACCTGGTT	0.577000														94			34		0	0	0.003755	0	0
OR6C3	254786	broad.mit.edu	37	12	55726216	55726216	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55726216C>T	uc010spj.2	+	0	732	c.732C>T	c.(730-732)gtC>gtT	p.V244V		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACATGATTGTCATTTCCATTT	0.353000														34			21		0	0	0.001523	0	0
FAM63B	54629	broad.mit.edu	37	15	59063690	59063690	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:59063690G>A	uc002afj.3	+	0	298	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FAM63B_uc002afi.3_Silent_p.E32E|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	32										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGCTACAGGAGACCAGGCTCG	0.716000														15			11		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179656855	179656855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179656855C>T	uc021vsy.1	-	9	1831	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	TTN_uc021vsz.1_Missense_Mutation_p.E536K|TTN_uc021vta.1_Missense_Mutation_p.E536K|TTN_uc021vtb.1_Missense_Mutation_p.E536K|TTN_uc002unb.2_Missense_Mutation_p.E536K|TTN_uc010frg.1_Missense_Mutation_p.E210K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	536							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q535K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTAGTTTCTTGTTCTTTG	0.284000														27			30		0	0	0.003755	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450708	85450708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85450708G>A	uc001tac.3	+	7	2248	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E591K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E688K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	713										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)		AAATATTTCAGAAAAATGCCA	0.388000														151			106		0	0	0.003610	0	0
KLK11	11012	broad.mit.edu	37	19	51528013	51528013	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51528013G>A	uc002pvd.1	-	2	286	c.174C>T	c.(172-174)ttC>ttT	p.F58F	KLK11_uc002pvc.4_Silent_p.F26F|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Silent_p.F26F|KLK11_uc002pvf.1_Silent_p.F26F|KLK11_uc010eom.3_Silent_p.F26F	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GCTTGCACTCGAACCCCTTGA	0.627000														8			8		0	0	0.000443	0	0
ODZ3	55714	broad.mit.edu	37	4	183245250	183245251	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183245250_183245251CC>TT	uc003ivd.1	+	0	152_153	c.77_78CC>TT	c.(76-78)tcc>tTT	p.S26F	ODZ3_uc021xux.1_Missense_Mutation_p.S26F|ODZ3_uc010irv.1_Missense_Mutation_p.S26F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	26	Teneurin N-terminal.				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)		TACACAAATTCCTCCGCAGACA	0.510000														18			12		0	0	0.004672	0	0
CYP2C19	1557	broad.mit.edu	37	10	96443702	96443702	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96443702C>T	uc001kjv.4	+	0	452	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C19_uc001kjw.4_Silent_p.I42I	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	42					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGAAATATCCTGCAGTTAG	0.448000														28			17		0	0	0.004990	0	0
ATP8B4	79895	broad.mit.edu	37	15	50193414	50193414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50193414C>T	uc001zxu.3	-	20	2306	c.2164G>A	c.(2164-2166)Gga>Aga	p.G722R	ATP8B4_uc010ber.3_Missense_Mutation_p.G595R|ATP8B4_uc010ufd.2_Missense_Mutation_p.G532R|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Missense_Mutation_p.G20R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	722					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGTTTTGTCCAAACAAATTT	0.358000														19			14		0	0	0.003163	0	0
FHL2	2274	broad.mit.edu	37	2	106002913	106002913	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:106002913G>A	uc002tcv.3	-	2	285	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	FHL2_uc002tdd.3_Silent_p.L21L|FHL2_uc002tdc.3_5'UTR|FHL2_uc002tcw.3_Silent_p.L21L|FHL2_uc002tcx.3_Silent_p.L21L|FHL2_uc002tcy.3_Silent_p.L21L|FHL2_uc002tcz.3_Silent_p.L131L|FHL2_uc002tda.3_Non-coding_Transcript|FHL2_uc002tdb.3_Silent_p.L137L|FHL2_uc002tde.1_Silent_p.L114L	NM_001039492	NP_963851	Q14192	FHL2_HUMAN	Homo sapiens four and a half LIM domains 2 (FHL2), transcript variant 5, mRNA.	21					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCCTCCCGCAGGATGTACTTC	0.527000														41			14		0	0	0.004007	0	0
NBEAL1	65065	broad.mit.edu	37	2	204058526	204058526	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:204058526C>T	uc002uzt.3	+	45	7176	c.6843C>T	c.(6841-6843)caC>caT	p.H2281H	NBEAL1_uc021vvj.1_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2281	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGGAACCACACCCTCCAAGAT	0.368000														116			80		0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200967635	200967635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200967635C>T	uc001gvs.2	-	13	2271	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	KIF21B_uc009wzl.2_Missense_Mutation_p.E652K|KIF21B_uc001gvr.2_Missense_Mutation_p.E652K|KIF21B_uc010ppn.2_Missense_Mutation_p.E652K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	652					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D651delD(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCCAGCTCGTCGATCAGC	0.567000														52			51		0	0	0.003610	0	0
TECPR2	9895	broad.mit.edu	37	14	102964022	102964022	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:102964022G>A	uc001ylw.2	+	18	4273	c.4047G>A	c.(4045-4047)tgG>tgA	p.W1349*	TECPR2_uc010txx.2_Nonsense_Mutation_p.W512*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	1349							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGGACTACTGGAAGAAAATTC	0.662000														1			10		0	0	0.001368	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670589	8670589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8670589G>A	uc002mkj.1	-	2	281	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	3					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGCAGGCGGGAGCCATAGAG	0.682000														7			8		0	0	0.004482	0	0
CCDC108	255101	broad.mit.edu	37	2	219903154	219903154	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219903154G>A	uc002vjl.1	-	3	384	c.300C>T	c.(298-300)atC>atT	p.I100I	CCDC108_uc010zkp.1_Silent_p.I89I|CCDC108_uc010zkq.1_Silent_p.I35I|CCDC108_uc002vjn.3_Silent_p.I35I	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	100						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGGCAGGGATGGCCACTG	0.627000														21			14		0	0	0.003163	0	0
ANK3	288	broad.mit.edu	37	10	61832682	61832682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61832682C>T	uc001jky.3	-	36	8295	c.7957G>A	c.(7957-7959)Ggc>Agc	p.G2653S	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.	2653					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						CCATCAGGGCCATGCTGTCTT	0.537000														26			16		0	0	0.004007	0	0
EBPL	84650	broad.mit.edu	37	13	50235188	50235188	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:50235188G>A	uc001vdg.3	-	3	600	c.537C>T	c.(535-537)atC>atT	p.I179I	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	179					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GCAGTCCTGGGATCAGAACCC	0.458000														29			15		0	0	0.003163	0	0
EPPK1	83481	broad.mit.edu	37	8	144947061	144947061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144947061C>T	uc003zaa.1	-	0	374	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	121						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGGATAGCCCGTAGTGGCA	0.677000														21			23		0	0	0.002780	0	0
ABCC9	10060	broad.mit.edu	37	12	21998764	21998764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21998764C>T	uc001rfh.3	-	23	2889	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	ABCC9_uc001rfi.1_Missense_Mutation_p.E957K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	957					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCTCTTCTTCCTCTACATAC	0.388000														31			13		0	0	0.001368	0	0
CD22	933	broad.mit.edu	37	19	35832744	35832745	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35832744_35832745CC>TT	uc010edt.3	+	8	1995_1996	c.1911_1912CC>TT	c.(1909-1914)ctcccc>ctTTcc	p.P638S	CD22_uc010edu.3_Missense_Mutation_p.P550S|CD22_uc010edv.3_Missense_Mutation_p.P638S|CD22_uc002nzb.4_Missense_Mutation_p.P461S|CD22_uc010xst.2_Missense_Mutation_p.P466S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	638	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ACCAAAGCCTCCCCTACCACAG	0.604000														22			13		0	0	0.004672	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822087	43822087	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:43822087G>T	uc010skx.2	-	25	3902	c.3902C>A	c.(3901-3903)cCa>cAa	p.P1301Q	ADAMTS20_uc001rno.1_Missense_Mutation_p.P419Q|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P455Q	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1301						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTGACTGATGGATGGACCAC	0.388000														130			6		0.00307968	0.00640016	0.003080	1	0
AGXT2L1	64850	broad.mit.edu	37	4	109672152	109672152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:109672152G>A	uc003hzc.3	-	6	822	c.641C>T	c.(640-642)tCc>tTc	p.S214F	AGXT2L1_uc010imc.3_Missense_Mutation_p.S208F|AGXT2L1_uc011cfm.2_Missense_Mutation_p.S174F|AGXT2L1_uc011cfn.2_Missense_Mutation_p.S141F|AGXT2L1_uc011cfo.2_Missense_Mutation_p.S156F	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	214					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		ACTCTGCATGGATTCAGCAAT	0.458000														78			60		0	0	0.003610	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650684	232650684	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:232650684G>A	uc001hvg.3	-	0	560	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	134					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCCTCCACGAAGTCCAGAT	0.502000														83			48		0	0	0.003610	0	0
MFF	56947	broad.mit.edu	37	2	228205011	228205011	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228205011C>T	uc002vos.3	+	5	845	c.433C>T	c.(433-435)Cga>Tga	p.R145*	MFF_uc002vot.3_Nonsense_Mutation_p.R119*|MFF_uc002vow.3_Nonsense_Mutation_p.R119*|MFF_uc002voy.3_Nonsense_Mutation_p.R145*|MFF_uc021vxu.1_Nonsense_Mutation_p.R119*|MFF_uc002voz.3_Nonsense_Mutation_p.R119*	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	145						integral to membrane|mitochondrial outer membrane		p.R145R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TTAACAGATCCGAGCAGTTGG	0.423000														34			14		0	0	0.001855	0	0
TPP1	1200	broad.mit.edu	37	11	6637259	6637259	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6637259G>A	uc001mel.1	-	8	1183	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	TPP1_uc001mek.1_Silent_p.F131F	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	374					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGGTAGGGCGGAACTGGTGTC	0.493000														24			22		0	0	0.005443	0	0
KCNH3	23416	broad.mit.edu	37	12	49938131	49938131	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49938131G>A	uc001ruh.1	+	6	1415	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	KCNH3_uc010smj.1_Silent_p.E325E	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	385					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCAGCGGGAGATCGAGAGCA	0.617000														13			5		0	0	0.001984	0	0
SCN10A	6336	broad.mit.edu	37	3	38739607	38739607	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38739607A>C	uc003ciq.3	-	26	5104	c.5104T>G	c.(5104-5106)Ttc>Gtc	p.F1702V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1702					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)	TAGGTGGTGAAGAAGATGATG	0.552000														32			24		0	0	0.002780	0	0
PALM	5064	broad.mit.edu	37	19	746527	746527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:746527G>A	uc002lpm.1	+	8	1071	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	PALM_uc002lpn.1_Missense_Mutation_p.G249S|PALM_uc010xfu.1_Missense_Mutation_p.G158S	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	293					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GATCCAGCCCGGCCAGGAGCC	0.677000														21			18		0	0	0.002780	0	0
PTPRO	5800	broad.mit.edu	37	12	15734657	15734657	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:15734657C>T	uc001rcv.2	+	22	3647	c.3177C>T	c.(3175-3177)gcC>gcT	p.A1059A	PTPRO_uc001rcw.2_Silent_p.A1031A|PTPRO_uc001rcx.2_Silent_p.A248A|PTPRO_uc001rcy.2_Silent_p.A248A|PTPRO_uc001rcz.2_Silent_p.A220A|PTPRO_uc001rda.2_Silent_p.A220A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1059	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACCTATAGCCTATGGAGACA	0.448000														31			28		0	0	0.001271	0	0
DOCK3	1795	broad.mit.edu	37	3	51393678	51393678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51393678G>A	uc011bds.2	+	41	4431	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1470	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGGAGAATGAATTCAAGGT	0.488000														15			18		0	0	0.000743	0	0
KDM1B	221656	broad.mit.edu	37	6	18207642	18207642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18207642C>T	uc003nco.1	+	8	1139	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	KDM1B_uc003ncn.1_Missense_Mutation_p.S326L	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	558	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.A355A(1)|p.A355V(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCTGCTCGCTCGTGGGACCAC	0.522000														45			21		0	0	0.002780	0	0
IRX4	50805	broad.mit.edu	37	5	1879657	1879657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1879657C>T	uc003jcz.2	-	3	816	c.697G>A	c.(697-699)Gag>Aag	p.E233K	IRX4_uc011cmf.1_Missense_Mutation_p.E94K	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	233					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcccgcgcctcctcctcgccc	0.662000														9			9		0	0	0.004482	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832808	24832808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24832808G>A	uc001iru.4	+	18	5012	c.4609G>A	c.(4609-4611)Gaa>Aaa	p.E1537K	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E1220K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E373K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1537					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAGGACAGGAAATGAACAG	0.527000														22			18		0	0	0.000958	0	0
DAO	1610	broad.mit.edu	37	12	109292555	109292555	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109292555C>T	uc001tnr.4	+	8	1467	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	DAO_uc001tnq.4_Silent_p.L200L|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	266					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CTGCTGCAGACTGGAGCCCAC	0.522000														21			9		0	0	0.004482	0	0
PTH	5741	broad.mit.edu	37	11	13514345	13514345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:13514345G>A	uc001mlb.3	-	1	173	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F		NM_000315	NP_000306	P01270	PTHY_HUMAN	Homo sapiens parathyroid hormone (PTH), mRNA.	20					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		GATTTTGTAAGAAAACAAATT	0.338000														20			15		0	0	0.004990	0	0
KCNH5	27133	broad.mit.edu	37	14	63174765	63174765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:63174765C>T	uc001xfx.3	-	10	2479	c.2428G>A	c.(2428-2430)Ggg>Agg	p.G810R	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	810					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCAGCCACCCTTTTCCATTT	0.458000														19			58		0	0	0.003610	0	0
AOC2	314	broad.mit.edu	37	17	41002343	41002343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:41002343C>T	uc002ibu.3	+	3	2284	c.2249C>T	c.(2248-2250)cCt>cTt	p.P750L	AOC2_uc002ibt.3_Missense_Mutation_p.P723L|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	750					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACTTACCCCCTTTCTCTTAC	0.557000														35			85		0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281714	103281714	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103281714C>T	uc002tca.3	+	2	1051	c.909C>T	c.(907-909)acC>acT	p.T303T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	303						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTCGATTCACCCATAATATCC	0.453000														45			36		0	0	0.003755	0	0
SEPP1	6414	broad.mit.edu	37	5	42801031	42801031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:42801031C>T	uc011cps.2	-	5	1125	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.G313R|SEPP1_uc011cpu.2_Missense_Mutation_p.G313R|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	313					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATTGCAGACCCTGTTTTTTCA	0.433000														47			38		0	0	0.001287	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529560	5529560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5529560G>A	uc021qcw.1	-	0	1229	c.1229C>T	c.(1228-1230)cCa>cTa	p.P410L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.P410L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	410										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAAAGCTGGGCAGGAGGA	0.547000														52			37		0	0	0.001951	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199013	26199013	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:26199013G>A	uc003ngw.3	-	1	460	c.460_splice	c.e1+1		HIST1H3D_uc003ngv.3_Intron|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2BF_uc003ngx.3_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	Homo sapiens histone cluster 1, H2ad (HIST1H2AD), mRNA.						nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				AGGAATACATGGGTGGCTCTG	0.368000														14			9		0	0	0.004482	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661937	77661937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77661937G>A	uc011cbx.2	+	4	3564	c.2611G>A	c.(2611-2613)Gcg>Acg	p.A871T	SHROOM3_uc011cbz.1_Missense_Mutation_p.A695T|SHROOM3_uc003hkf.1_Missense_Mutation_p.A746T|SHROOM3_uc003hkg.3_Missense_Mutation_p.A649T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	871					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGCGGAGGAGCGTCGGACAG	0.672000														15			12		0	0	0.000978	0	0
KDM5B	10765	broad.mit.edu	37	1	202700964	202700964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:202700964G>A	uc009xag.3	-	24	4237	c.4121C>T	c.(4120-4122)cCc>cTc	p.P1374L	KDM5B_uc001gyf.3_Missense_Mutation_p.P1338L|KDM5B_uc001gyg.1_Missense_Mutation_p.P1180L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1338					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACCATGGAGGGGGATACAACT	0.398000														41			44		0	0	0.003214	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996386	140996386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140996386C>T	uc004fbt.3	+	3	3520	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	MAGEC1_uc010nsl.2_Missense_Mutation_p.R133C|MAGEC1_uc022cfi.1_Missense_Mutation_p.R725C	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1066	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCCTCGTTACGAATT	0.493000										HNSCC(15;0.026)				4			55		0	0	0.003610	0	0
CYLC1	1538	broad.mit.edu	37	X	83128069	83128069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:83128069C>T	uc004eei.1	+	3	374	c.353C>T	c.(352-354)tCc>tTc	p.S118F	CYLC1_uc004eeh.1_Missense_Mutation_p.S117F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	118					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						TATAAAAAGTCCAAAGATGAA	0.373000														1			12		0	0	0.000978	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716535	45716535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45716535C>T	uc002pay.1	-	9	1063	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	341								p.R341W(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TTCCAGGTCCCGGGCCACGGC	0.662000														21			14		0	0	0.004990	0	0
ZNF142	7701	broad.mit.edu	37	2	219520896	219520896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219520896G>A	uc002vin.3	-	3	693	c.257C>T	c.(256-258)cCa>cTa	p.P86L	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGAGCACCTGGGGTCAGGGT	0.537000														22			13		0	0	0.002450	0	0
KCNA4	3739	broad.mit.edu	37	11	30032619	30032619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30032619C>T	uc021qfi.1	-	0	1607	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	KCNA4_uc001msk.3_Missense_Mutation_p.G536E	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	536						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AATCTTGCCCCCTACAGTGAT	0.498000														27			19		0	0	0.001216	0	0
APOB	338	broad.mit.edu	37	2	21234237	21234237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21234237C>T	uc002red.3	-	25	5631	c.5503G>A	c.(5503-5505)Gaa>Aaa	p.E1835K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1835					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTTTATTTCATTATTTTGG	0.448000														243			215		0	0	0.003610	0	0
MPEG1	219972	broad.mit.edu	37	11	58979245	58979245	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58979245T>G	uc001nnu.4	-	0	1250	c.1094A>C	c.(1093-1095)gAt>gCt	p.D365A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	365						integral to membrane		p.T364T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAGCCATCATCCGTGTTGGC	0.488000														53			35		0	0	0.003271	0	0
POLG	5428	broad.mit.edu	37	15	89870573	89870573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:89870573G>A	uc002bns.4	-	6	1540	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	POLG_uc002bnr.4_Missense_Mutation_p.H420Y	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	420					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTCACTGGGTGGGGACACCTT	0.582000								DNA polymerases (catalytic subunits)						17			12		0	0	0.002450	0	0
BCO2	83875	broad.mit.edu	37	11	112086976	112086976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:112086976C>T	uc001pnf.3	+	10	1666	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	BCO2_uc001png.3_Missense_Mutation_p.P444S|BCO2_uc001pnh.3_Missense_Mutation_p.P483S|BCO2_uc010rwt.2_Missense_Mutation_p.P412S|BCO2_uc009yyn.3_Missense_Mutation_p.P477S|BCO2_uc001pni.3_Missense_Mutation_p.P483S	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	517					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCCCTCAGAACCTGTTTTTGT	0.418000														41			30		0	0	0.003755	0	0
OGDHL	55753	broad.mit.edu	37	10	50955095	50955095	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50955095C>A	uc009xog.3	-	7	1262	c.1228G>T	c.(1228-1230)Gga>Tga	p.G410*	OGDHL_uc001jie.3_Nonsense_Mutation_p.G383*|OGDHL_uc010qgt.2_Nonsense_Mutation_p.G326*|OGDHL_uc010qgu.2_Nonsense_Mutation_p.G174*|OGDHL_uc009xoh.2_Nonsense_Mutation_p.G174*	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	383					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						TGGGCATCTCCACGGTAGAAC	0.642000														30			19		1.10923e-09	2.32529e-09	0.002780	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870568	140870568	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140870568C>A	uc003lla.2	+	0	1761	c.1761C>A	c.(1759-1761)tcC>tcA	p.S587S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.S587S	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	587	Cadherin 6.				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)			CTCCTGGCTCCTTGGTCACCA	0.612000														3			18		6.94344e-10	1.45586e-09	0.000743	1	0
OR8B12	219858	broad.mit.edu	37	11	124413460	124413460	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124413460G>A	uc010sam.2	-	0	91	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TAGAAACCCAGAAACAGGAAG	0.507000														33			21		0	0	0.001216	0	0
FAM129A	116496	broad.mit.edu	37	1	184868373	184868373	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:184868373T>A	uc001gra.3	-	1	319	c.125A>T	c.(124-126)aAt>aTt	p.N42I	FAM129A_uc009wyh.1_Missense_Mutation_p.N42I|FAM129A_uc009wyi.1_5'UTR	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	42					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCGCACGTGATTGCAGAAAGC	0.398000														47			58		0	0	0.003610	0	0
FCRL3	115352	broad.mit.edu	37	1	157668387	157668387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157668387G>A	uc001fqz.4	-	3	377	c.85C>T	c.(85-87)Cct>Tct	p.P29S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.P29S|FCRL3_uc001frc.1_Missense_Mutation_p.P29S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACCATGGAGGATTGAGGAGA	0.507000														32			36		0	0	0.004878	0	0
DAO	1610	broad.mit.edu	37	12	109294211	109294211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109294211G>A	uc001tnr.4	+	10	1615	c.944G>A	c.(943-945)gGg>gAg	p.G315E	DAO_uc001tnq.4_Missense_Mutation_p.G249E|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	315					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGAGGCTACGGGCTCACCATC	0.537000														39			25		0	0	0.005443	0	0
MUTYH	4595	broad.mit.edu	37	1	45798461	45798462	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45798461_45798462GG>AA	uc001cnm.3	-	6	756_757	c.540_541CC>TT	c.(538-543)ggccgg>ggTTgg	p.R181W	MUTYH_uc001cnf.3_Missense_Mutation_p.R156W|MUTYH_uc009vxo.3_Missense_Mutation_p.R156W|MUTYH_uc001cng.3_Missense_Mutation_p.R167W|MUTYH_uc001cnj.3_Missense_Mutation_p.R64W|MUTYH_uc001cni.3_Missense_Mutation_p.R156W|MUTYH_uc001cnh.3_Missense_Mutation_p.R157W|MUTYH_uc001cnl.3_Missense_Mutation_p.R170W|MUTYH_uc009vxp.3_Missense_Mutation_p.R184W|MUTYH_uc001cnn.3_Missense_Mutation_p.R171W|MUTYH_uc001cno.3_Missense_Mutation_p.R64W|MUTYH_uc010oll.2_Missense_Mutation_p.P68L	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	181					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCAGCCGCCGGCCACGAGAAT	0.550000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					63			30		0	0	0.004672	0	0
MUSK	4593	broad.mit.edu	37	9	113547935	113547935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:113547935G>A	uc022blv.1	+	12	1849	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R483K|MUSK_uc022blu.1_Missense_Mutation_p.R473K	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	572					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGTATCCAAGGAATAACATT	0.448000														19			67		0	0	0.003610	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71377037	71377037	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71377037C>T	uc002sht.2	+	10	2290	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F		NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	646					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CTCAAGCATTCTTTTCTAAAT	0.303000														65			57		0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31323770	31323770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31323770G>A	uc010dmg.1	+	11	4013	c.3958G>A	c.(3958-3960)Gat>Aat	p.D1320N	ASXL3_uc002kxq.2_Missense_Mutation_p.D1027N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1320	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCCATGGATGATAAGCAGTT	0.453000														100			74		0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324175	61324175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61324175G>A	uc002lji.3	-	6	802	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	SERPINB3_uc002ljg.3_Missense_Mutation_p.H220Y|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	220					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GAGGCAAAATGAAAAGATGTG	0.398000														30			19		0	0	0.000743	0	0
CCDC140	151278	broad.mit.edu	37	2	223168963	223168963	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:223168963C>T	uc021vxg.1	+	0	342	c.342C>T	c.(340-342)tcC>tcT	p.S114S	CCDC140_uc002vnb.1_Silent_p.S114S	NM_153038	NP_694583	Q96MF4	CC140_HUMAN	Homo sapiens coiled-coil domain containing 140 (CCDC140), mRNA.	114										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCACAGTCCACAGACCCCG	0.602000														16			9		0	0	0.000673	0	0
DNAH5	1767	broad.mit.edu	37	5	13717498	13717498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13717498C>T	uc003jfd.2	-	72	12673	c.12631G>A	c.(12631-12633)Gaa>Aaa	p.E4211K	DNAH5_uc003jfc.2_Missense_Mutation_p.E379K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4211	AAA 6 (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)					TGGTTAAATTCGTAGGGGATA	0.542000									Kartagener syndrome					16			12		0	0	0.001368	0	0
PDE6C	5146	broad.mit.edu	37	10	95372619	95372619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95372619C>T	uc001kiu.4	+	0	275	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	46					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.Q45*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCAGTCCAGTCCAGCATGTCC	0.602000														45			30		0	0	0.001061	0	0
FAM135B	51059	broad.mit.edu	37	8	139160833	139160833	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139160833G>A	uc003yuy.3	-	13	3549	c.3378C>T	c.(3376-3378)ttC>ttT	p.F1126F	FAM135B_uc003yux.3_Silent_p.F1027F|FAM135B_uc003yuz.3_Intron|FAM135B_uc003yva.3_Silent_p.F688F|FAM135B_uc003yvb.3_Intron	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1126								p.Y1125N(1)		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)			CCTCTGGTGGGAAATATGGTA	0.378000										HNSCC(54;0.14)				38			17		0	0	0.000743	0	0
KANK2	25959	broad.mit.edu	37	19	11303680	11303680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11303680G>A	uc002mqm.3	-	1	1155	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	KANK2_uc021upe.1_Missense_Mutation_p.P359L|KANK2_uc002mqo.4_Missense_Mutation_p.P359L|KANK2_uc002mqp.1_Missense_Mutation_p.P168L|KANK2_uc002mqq.3_Missense_Mutation_p.P359L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	359										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTGCCGTAAGGCTCCAGGCT	0.692000														16			16		0	0	0.003163	0	0
COL5A3	50509	broad.mit.edu	37	19	10080329	10080330	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10080329_10080330CC>GT	uc002mmq.1	-	55	4105_4106	c.4019_4020GG>AC	c.(4018-4020)ggg>gAC	p.G1340D		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1340	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCCGTCCTCCCTGGGGGCCC	0.673000														6			6		0	0	0.004672	0	0
OR5B3	441608	broad.mit.edu	37	11	58170303	58170303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58170303C>T	uc010rkf.2	-	0	580	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAACAAGCTCGCTAATATGT	0.363000														23			23		0	0	0.003330	0	0
WDFY3	23001	broad.mit.edu	37	4	85742315	85742315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85742315G>A	uc003hpd.3	-	10	1921	c.1513C>T	c.(1513-1515)Ctt>Ttt	p.L505F	WDFY3_uc003hpf.3_Missense_Mutation_p.L505F	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	505						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCTCCAAAAGGCCAACCTCC	0.368000														39			27		0	0	0.001271	0	0
OR4F21	441308	broad.mit.edu	37	8	116933	116933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:116933G>A	uc011kwf.2	-	0	92	c.92C>T	c.(91-93)tCc>tTc	p.S31F		NM_001005504	NP_001005504	O95013	O4F21_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 21 (OR4F21), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						all_cancers(2;8.42e-24)|all_epithelial(2;5.38e-15)|Lung NSC(2;2.68e-06)|all_lung(2;5.05e-06)|Ovarian(12;0.0731)|Colorectal(14;0.0785)|all_hematologic(2;0.157)|Myeloproliferative disorder(644;0.185)|all_neural(12;0.186)|Acute lymphoblastic leukemia(644;0.244)		Epithelial(5;5.01e-18)|all cancers(2;6.06e-17)|OV - Ovarian serous cystadenocarcinoma(5;8.27e-09)|BRCA - Breast invasive adenocarcinoma(11;1.63e-06)|Colorectal(2;5.31e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0649)		GAGCACAGAGGAAAACACTAG	0.473000														14			178		0	0	0.003610	0	0
XIRP1	165904	broad.mit.edu	37	3	39230253	39230253	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:39230253C>T	uc003cjk.2	-	1	913	c.684G>A	c.(682-684)gtG>gtA	p.V228V	XIRP1_uc003cji.3_Silent_p.V228V|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.V228V	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	228							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGTCTTTTTCACATCACCCT	0.632000														57			20		0	0	0.001523	0	0
TCRB	0	broad.mit.edu	37	7	142099663	142099663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142099663C>T	uc003vyz.1	-	1	139	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G47S					SubName: Full=Uncharacterized protein;																		GATACATGACCCGAAATTGGA	0.507000														4			53		0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028011	44028011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:44028011G>A	uc003bdy.2	-	18	2520	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	EFCAB6_uc003bdz.2_Missense_Mutation_p.P584S|EFCAB6_uc010gzi.2_Missense_Mutation_p.P584S|EFCAB6_uc010gzj.1_Missense_Mutation_p.P34S|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	736					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)				AGCCTCCTAGGGAAAAGCTTC	0.567000														60			39		0	0	0.002222	0	0
CSMD3	114788	broad.mit.edu	37	8	114448954	114448954	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:114448954A>T	uc003ynu.3	-	0	289	c.130T>A	c.(130-132)Ttt>Att	p.F44I	CSMD3_uc011lhx.2_Missense_Mutation_p.F44I|CSMD3_uc010mcx.1_Missense_Mutation_p.F44I|CSMD3_uc003ynx.4_Missense_Mutation_p.F44I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	44						integral to membrane|plasma membrane		p.G43V(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						CAAAACGTAAATCCACTTTTA	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				193			69		0	0	0.003610	0	0
IFT122	55764	broad.mit.edu	37	3	129200535	129200535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:129200535C>T	uc003eml.3	+	14	2010	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	IFT122_uc003emm.3_Nonsense_Mutation_p.Q551*|IFT122_uc003emn.3_Nonsense_Mutation_p.Q492*|IFT122_uc003emo.3_Nonsense_Mutation_p.Q440*|IFT122_uc003emp.3_Nonsense_Mutation_p.Q401*|IFT122_uc010htc.3_Nonsense_Mutation_p.Q543*|IFT122_uc011bky.2_Nonsense_Mutation_p.Q342*|IFT122_uc011bla.2_Nonsense_Mutation_p.Q342*|IFT122_uc003emr.3_Nonsense_Mutation_p.Q342*|IFT122_uc011bkx.1_Nonsense_Mutation_p.Q391*|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Nonsense_Mutation_p.Q30*	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	551					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						GCTGCTTTTTCAGGTGAAGTC	0.562000														28			12		0	0	0.004007	0	0
BMP10	27302	broad.mit.edu	37	2	69093233	69093233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:69093233C>T	uc002sez.1	-	1	964	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	269					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCATTCAGTTCCTCCTTCCTC	0.478000														30			21		0	0	0.001523	0	0
HGD	3081	broad.mit.edu	37	3	120360505	120360505	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:120360505C>T	uc003edw.3	-	10	1270	c.810G>A	c.(808-810)ggG>ggA	p.G270G	HGD_uc003edv.3_Silent_p.G129G	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	270			G -> R (in AKU).		L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTGTATAATTCCCGTGCCAGG	0.443000														63			30		0	0	0.004878	0	0
EPG5	57724	broad.mit.edu	37	18	43497687	43497687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:43497687G>A	uc002lbm.3	-	16	3296	c.3196C>T	c.(3196-3198)Cct>Tct	p.P1066S	EPG5_uc002lbo.1_Missense_Mutation_p.P1066S|EPG5_uc010xcr.1_5'Flank|EPG5_uc010xcs.1_5'Flank|EPG5_uc010xcq.1_5'Flank|EPG5_uc002lbn.2_5'UTR	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1066					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TAAAATAAAGGCAGAATCTTA	0.423000														57			41		0	0	0.002222	0	0
CCDC141	285025	broad.mit.edu	37	2	179702184	179702184	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179702184C>T	uc002une.2	-	22	3880	c.3762G>A	c.(3760-3762)ggG>ggA	p.G1254G	CCDC141_uc002unf.1_Silent_p.G733G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	679							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCTGCTGGTCCCAGCCTGCA	0.537000														17			19		0	0	0.001216	0	0
DOCK2	1794	broad.mit.edu	37	5	169506040	169506040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:169506040C>T	uc003maf.3	+	48	5136	c.5056C>T	c.(5056-5058)Ccg>Tcg	p.P1686S	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.P1178S|DOCK2_uc003mah.3_Missense_Mutation_p.P242S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1686					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGATCTCCCCGGGGAGCAC	0.557000														20			36		0	0	0.002222	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160676288	160676288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:160676288C>T	uc002ubb.4	-	28	4176	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E1368K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E1368K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1368	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TAAACTGCTTCTTCAATAACT	0.343000														90			44		0	0	0.003610	0	0
MYOM1	8736	broad.mit.edu	37	18	3134759	3134759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:3134759G>A	uc002klp.3	-	15	2607	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	MYOM1_uc002klq.3_Missense_Mutation_p.S758L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	758	Fibronectin type-III 3.					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						CTCCTCCCACGAAACTACCAC	0.517000														54			17		0	0	0.001216	0	0
UNC5B	219699	broad.mit.edu	37	10	73051457	73051457	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:73051457C>T	uc001jro.3	+	9	2014	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	UNC5B_uc001jrp.3_Silent_p.F510F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	521					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.H520N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCCACTTCCTGCACCTGC	0.697000														10			10		0	0	0.000978	0	0
CYBASC3	220002	broad.mit.edu	37	11	61120466	61120466	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:61120466A>G	uc010rlh.2	-	5	1370	c.590T>C	c.(589-591)tTc>tCc	p.F197S	CYBASC3_uc001nrf.4_Missense_Mutation_p.F180S|CYBASC3_uc001nrg.3_Missense_Mutation_p.F180S|CYBASC3_uc009ynn.3_Non-coding_Transcript	NM_001161454	NP_705839	Q8NBI2	CYAC3_HUMAN	Homo sapiens cytochrome b, ascorbate dependent 3 (CYBASC3), transcript variant 1, mRNA.	180	Cytochrome b561.				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity			kidney(1)|large_intestine(3)|lung(2)	6						CAAACTGAAGAAAAGCTTCTC	0.507000														17			11		0	0	0.000978	0	0
IQCA1	79781	broad.mit.edu	37	2	237233337	237233337	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237233337C>T	uc002vwb.2	-	18	2521	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	IQCA1_uc002vvz.1_Silent_p.R821R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.R780R	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	821							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						tcttttatttccttttccctt	0.428000														7			8		0	0	0.003080	0	0
CLDN1	9076	broad.mit.edu	37	3	190039947	190039948	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:190039947_190039948CC>TT	uc003fsh.3	-	0	288_289	c.48_49GG>AA	c.(46-51)ctggga>ctAAga	p.G17R		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	17					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CCGATCCATCCCAGGAAGGCGA	0.663000														25			15		0	0	0.004672	0	0
PTPRF	5792	broad.mit.edu	37	1	44069177	44069177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:44069177C>T	uc001cjr.3	+	14	2771	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	PTPRF_uc001cjs.3_Missense_Mutation_p.P802S|PTPRF_uc001cju.3_Missense_Mutation_p.P382S|PTPRF_uc009vwt.3_Missense_Mutation_p.P373S|PTPRF_uc001cjv.3_Missense_Mutation_p.P271S|PTPRF_uc001cjw.3_Missense_Mutation_p.P37S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	811	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGCAGCAAGCCCAAAATTGT	0.627000														45			18		0	0	0.001523	0	0
KCNB1	3745	broad.mit.edu	37	20	48098645	48098645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48098645C>T	uc002xur.1	-	0	539	c.373G>A	c.(373-375)Gac>Aac	p.D125N	KCNB1_uc002xus.1_Missense_Mutation_p.D125N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	125					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGATCTCGTCGATGCCCCAG	0.597000														52			16		0	0	0.000743	0	0
TSIX	9383	broad.mit.edu	37	X	73045928	73045928	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73045928C>T	uc004ebn.2	+	0		c.33889C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTAGAAATCCCAAACCCCAGA	0.493000														8			33		0	0	0.002445	0	0
PHYH	5264	broad.mit.edu	37	10	13336432	13336432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:13336432G>A	uc001imf.3	-	3	498	c.410C>T	c.(409-411)cCc>cTc	p.P137L	PHYH_uc001ime.3_Missense_Mutation_p.P37L	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	137					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCTGACCTCGGGGAGAGTGCA	0.517000														30			14		0	0	0.004007	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813028	31813028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:31813028C>T	uc002yod.3	+	0	383	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	128						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACTACCTTTTCATCCAGGAAT	0.458000														81			37		0	0	0.001951	0	0
LY9	4063	broad.mit.edu	37	1	160786513	160786513	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160786513A>C	uc001fwu.3	+	4	1252	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	LY9_uc001fwv.3_Missense_Mutation_p.K401T|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Missense_Mutation_p.K53T	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	401	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGCTGCAGAAGGAAGCTGTT	0.562000														17			17		0	0	0.000958	0	0
RANBP17	64901	broad.mit.edu	37	5	170345783	170345783	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:170345783C>T	uc003mba.3	+	9	1163	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	341					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)			GACAAATTATCAGCTGGGAGA	0.313000			T	TRD@	ALL									10			26		0	0	0.003954	0	0
TAT	6898	broad.mit.edu	37	16	71602055	71602055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:71602055C>T	uc002fap.2	-	11	1456	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	453					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GCCTATTTATCACACTCCTCC	0.582000														34			13		0	0	0.003163	0	0
PRR12	57479	broad.mit.edu	37	19	50103156	50103156	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50103156C>A	uc002poo.4	+	4	4306	c.4306C>A	c.(4306-4308)Ctt>Att	p.L1436I		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	615							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCACCCCCTCTTCCGGGGCT	0.622000														20			8		0.000274275	0.000572066	0.004482	1	0
AGTR1	185	broad.mit.edu	37	3	148459740	148459740	+	Silent	SNP	G	A	A	rs1064535		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:148459740G>A	uc003ewg.3	+	3	1364	c.918G>A	c.(916-918)ggG>ggA	p.G306G	AGTR1_uc003ewh.3_Silent_p.G306G|AGTR1_uc003ewi.3_Silent_p.G306G|AGTR1_uc003ewj.3_Silent_p.G306G|AGTR1_uc003ewk.3_Silent_p.G306G|AGTR1_uc021xfj.1_Silent_p.G306G	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	306					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.L305L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCTTTCTGGGGAAAAAATTTA	0.368000														36			42		0	0	0.001287	0	0
MYH4	4622	broad.mit.edu	37	17	10356594	10356594	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10356594G>A	uc002gmn.3	-	23	3097	c.2986C>T	c.(2986-2988)Ctg>Ttg	p.L996L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	996					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTTGGTCAGCTTAGCAATG	0.473000														32			128		0	0	0.003610	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923814	2923814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2923814C>T	uc010ckd.3	+	18	1766	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	RAP1GAP2_uc010cke.3_Missense_Mutation_p.P544L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	559					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCACGGAGTCCCATCAAGCGA	0.622000														3			6		0	0	0.001984	0	0
MAGI1	9223	broad.mit.edu	37	3	65376826	65376826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:65376826C>T	uc003dmn.3	-	13	2933	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	MAGI1_uc003dmm.3_Missense_Mutation_p.E803K|MAGI1_uc003dmo.3_Missense_Mutation_p.E803K|MAGI1_uc003dmp.3_Missense_Mutation_p.E803K|MAGI1_uc010hnx.1_Missense_Mutation_p.E86K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	803					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.E803K(3)		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)		CGTCGGTTTTCATACATGCTC	0.502000														47			21		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179458944	179458944	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179458944G>A	uc021vsy.1	-	245	50697	c.50472C>T	c.(50470-50472)ttC>ttT	p.F16824F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F10519F|TTN_uc021vta.1_Silent_p.F10452F|TTN_uc021vtb.1_Silent_p.F10327F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17751	Ig-like 101.						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)			GCTTATCTCTGAAGTCGAGGT	0.413000														37			36		0	0	0.001485	0	0
AHNAK	79026	broad.mit.edu	37	11	62296503	62296503	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62296503T>A	uc001ntl.3	-	4	5686	c.5386A>T	c.(5386-5388)Aag>Tag	p.K1796*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1796					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCTCCCTTCAGTTTGGGT	0.473000														90			66		0	0	0.003610	0	0
LMX1A	4009	broad.mit.edu	37	1	165183025	165183025	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165183025G>A	uc001gcz.2	-	4	716	c.522C>T	c.(520-522)ctC>ctT	p.L174L	LMX1A_uc021pdz.1_Silent_p.L174L|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGACTTGCAGAGACTTTCTT	0.488000														79			78		0	0	0.003610	0	0
C14orf159	80017	broad.mit.edu	37	14	91636449	91636449	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91636449C>T	uc001xyw.2	+	4	712	c.360C>T	c.(358-360)ttC>ttT	p.F120F	C14orf159_uc010atv.1_Intron|C14orf159_uc001xyy.2_Silent_p.F120F|C14orf159_uc001xyz.2_Silent_p.F4F|C14orf159_uc001xzb.2_Silent_p.F120F|C14orf159_uc001xyx.2_Silent_p.F120F|C14orf159_uc001xzc.2_Silent_p.F120F|C14orf159_uc001xza.2_Silent_p.F120F|C14orf159_uc001xyv.2_Silent_p.F120F|C14orf159_uc010twj.1_Silent_p.F120F|C14orf159_uc001xze.2_Silent_p.F120F	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	120						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGTGGCCTTCTTCCTGGGCT	0.622000														11			33		0	0	0.002836	0	0
RGPD4	285190	broad.mit.edu	37	2	108488225	108488225	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108488225G>A	uc010ywk.2	+	19	3847	c.3765G>A	c.(3763-3765)agG>agA	p.R1255R	RGPD4_uc002tdu.3_Silent_p.R442R|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1255					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATTTAAGGGAAGATGCTT	0.448000														188			128		0	0	0.003610	0	0
AIM1	202	broad.mit.edu	37	6	106968327	106968327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:106968327G>A	uc003prh.3	+	1	2932	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	674							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)		AAATGGCCAGGATAGCCCTGC	0.438000														32			22		0	0	0.003330	0	0
SMARCA5	8467	broad.mit.edu	37	4	144459978	144459978	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:144459978T>A	uc003ijg.3	+	12	2119	c.1657T>A	c.(1657-1659)Ttt>Att	p.F553I		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	553	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CAGCACAAAGTTTGTTTTCAT	0.383000														55			43		0	0	0.003610	0	0
OR4N2	390429	broad.mit.edu	37	14	20295610	20295610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20295610G>A	uc010tkv.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGGGAAATGGAAAGCGAGA	0.373000														36			31		0	0	0.002445	0	0
SPSB4	92369	broad.mit.edu	37	3	140785535	140785535	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:140785535C>T	uc003ett.3	+	1	834	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	SPSB4_uc010hum.3_Silent_p.L197L	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	197	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGCCAGTACCTGGGCGTGGC	0.627000														9			9		0	0	0.004482	0	0
CACNA1S	779	broad.mit.edu	37	1	201063147	201063147	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201063147C>T	uc001gvv.3	-	2	488	c.261G>A	c.(259-261)gaG>gaA	p.E87E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	87					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)	ACTCCAGCTTCTCCTGTGGGA	0.547000														18			27		0	0	0.003271	0	0
OR51V1	283111	broad.mit.edu	37	11	5221079	5221079	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5221079G>A	uc010qyz.2	-	0	852	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGCCAATGAGAACGTGGG	0.468000														25			16		0	0	0.004990	0	0
SVEP1	79987	broad.mit.edu	37	9	113173551	113173551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:113173551C>T	uc010mtz.3	-	36	6777	c.6440G>A	c.(6439-6441)gGa>gAa	p.G2147E	SVEP1_uc010mty.3_Missense_Mutation_p.G73E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2147	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTGGCTCTCCACACCGCAC	0.507000														12			50		0	0	0.003610	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319179	81319179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:81319179C>T	uc001kal.4	-	2	158	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SFTPA2_uc001kan.4_Missense_Mutation_p.E21K|SFTPA2_uc001kam.2_Non-coding_Transcript	NM_001098668	NP_001092138	Q8IWL1	SFPA2_HUMAN	Homo sapiens surfactant protein A2 (SFTPA2), mRNA.	21					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCCTTCACTTCGCACGCAGCA	0.642000									Pulmonary Fibrosis, Idiopathic					71			44		0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54793064	54793064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:54793064C>T	uc021smr.1	+	19	5183	c.5183C>T	c.(5182-5184)tCt>tTt	p.S1728F	UNC13C_uc021sms.1_Missense_Mutation_p.S1730F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1730	MHD1.				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)		GCTCTCTTTTCTTGCTCCGTG	0.428000														36			37		0	0	0.004878	0	0
MLLT1	4298	broad.mit.edu	37	19	6270642	6270642	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6270642G>A	uc002mek.3	-	1	305	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	47	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCTTCTCCACGAAGTGCTGGA	0.627000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			12		0	0	0.001368	0	0
MEP1A	4224	broad.mit.edu	37	6	46806849	46806849	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46806849C>T	uc011dwh.1	+	12	2309	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	MEP1A_uc010jzh.1_Silent_p.I739I|MEP1A_uc011dwg.1_Silent_p.I461I|MEP1A_uc011dwi.1_Silent_p.I639I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	739					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCATCGCCATCCTTTCCCAAA	0.597000														26			30		0	0	0.002096	0	0
ASH1L	55870	broad.mit.edu	37	1	155491261	155491262	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155491261_155491262CC>TT	uc009wqq.3	-	1	529_530	c.49_50GG>AA	c.(49-51)ggt>AAt	p.G17N	ASH1L_uc001fkt.3_Missense_Mutation_p.G17N|ASH1L_uc009wqr.1_Missense_Mutation_p.G17N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	17					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.E16K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTGAAAAACCTTCGGAATCA	0.411000														88			90		0	0	0.004672	0	0
KCNB2	9312	broad.mit.edu	37	8	73850006	73850006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73850006G>A	uc003xzb.3	+	2	3004	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	806					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)			GAGCTTCACTGAAATAGATAC	0.527000														43			14		0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89381998	89381998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:89381998C>T	uc010upo.1	+	2	549	c.175C>T	c.(175-177)Cct>Tct	p.P59S	ACAN_uc002bmx.3_Missense_Mutation_p.P59S|ACAN_uc010upp.1_Missense_Mutation_p.P59S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	59					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCATGCACCCTGTGACCAC	0.622000														19			13		0	0	0.001368	0	0
MCM5	4174	broad.mit.edu	37	22	35808531	35808531	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:35808531C>T	uc003anu.4	+	7	1042	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MCM5_uc003anv.4_Silent_p.P273P|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.P100P	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	316					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	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCGTGAGCCCCCAGGAGGAGG	0.617000														47			37		0	0	0.001706	0	0
RPL15	6138	broad.mit.edu	37	3	23959495	23959495	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:23959495C>G	uc003ccr.3	+	1	538	c.145C>G	c.(145-147)Cgc>Ggc	p.R49G	NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.R49G|RPL15_uc011awj.2_Missense_Mutation_p.R49G|RPL15_uc003ccn.3_Missense_Mutation_p.R49G|RPL15_uc003cco.3_Missense_Mutation_p.R49G|RPL15_uc003ccp.3_Missense_Mutation_p.R49G|RPL15_uc003ccq.3_Missense_Mutation_p.R49G|RPL15_uc021wub.1_Missense_Mutation_p.R49G	NM_001253379	NP_001240308	P61313	RL15_HUMAN	Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.	49					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGATAAAGCGCGCCGACTGGG	0.557000														24			14		0	0	0.004007	0	0
DAB2	1601	broad.mit.edu	37	5	39377003	39377003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:39377003G>A	uc003jlx.3	-	11	2417	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L	DAB2_uc003jlw.3_Missense_Mutation_p.P608L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	629					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GATGTCCTTGGGAGGGCCAGC	0.527000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			52		0	0	0.003610	0	0
VILL	50853	broad.mit.edu	37	3	38044760	38044760	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38044760C>T	uc003chj.3	+	14	2047	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	VILL_uc003chl.3_Silent_p.F587F	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	587					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTCCCCACTTCTGGGAGGCCC	0.592000											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			15		0	0	0.004990	0	0
FREM1	158326	broad.mit.edu	37	9	14859410	14859410	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:14859410G>A	uc003zlm.3	-	4	1218	c.402C>T	c.(400-402)atC>atT	p.I134I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	134					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATATGGATGATGTTACAGT	0.408000														35			60		0	0	0.003610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140504	3140504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3140504C>T	uc002ctv.1	-	4	854	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G174S|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G184S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	256					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						GCCGCAGCGCCCCGTCCGAGC	0.647000														32			26		0	0	0.005443	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138689	5138689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:5138689G>A	uc021pml.1	+	1	218	c.172G>A	c.(172-174)Gag>Aag	p.E58K	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc010qap.2_Missense_Mutation_p.E35K|AKR1C3_uc010qaq.1_Missense_Mutation_p.E58K|AKR1C3_uc001ihu.3_Missense_Mutation_p.E58K	NM_001253908	NP_001240837	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 2, mRNA.	58					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.E58D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATACAATAATGAGGAGCAGGT	0.443000														48			36		0	0	0.004878	0	0
CNTN4	152330	broad.mit.edu	37	3	3078992	3078992	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:3078992A>T	uc003bpc.3	+	17	2411	c.2072A>T	c.(2071-2073)aAa>aTa	p.K691I	CNTN4_uc003bpb.1_Missense_Mutation_p.K362I|CNTN4_uc021wsg.1_Missense_Mutation_p.K691I|CNTN4_uc003bpd.1_Missense_Mutation_p.K691I|CNTN4_uc003bpe.3_Missense_Mutation_p.K363I|CNTN4_uc003bpf.3_Missense_Mutation_p.K362I|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	691	Fibronectin type-III 1.				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)		CCCTCAGAGAAACGGAGAACA	0.522000														83			42		0	0	0.002852	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235313	81235313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:81235313G>A	uc002bfw.1	+	26	3987	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	KIAA1199_uc010unn.1_Missense_Mutation_p.E1243K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1243										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCCAGTTCGGAGGATGGCAT	0.597000														95			65		0	0	0.003610	0	0
CLCA4	22802	broad.mit.edu	37	1	87045722	87045722	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87045722G>A	uc009wcs.3	+	13	2498	c.2454G>A	c.(2452-2454)aaG>aaA	p.K818K	CLCA4_uc009wct.3_Silent_p.K581K|CLCA4_uc009wcu.3_Silent_p.K638K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	818						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)		TGTCACCAAAGGAGGCCAACT	0.338000														37			33		0	0	0.002445	0	0
CDH11	1009	broad.mit.edu	37	16	65032559	65032559	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:65032559C>T	uc002eoi.3	-	3	863	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.S143S|CDH11_uc010vin.2_Silent_p.S17S|CDH11_uc010vio.1_Silent_p.S143S	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATGAATTCCGACGGTGGCT	0.557000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				23			14		0	0	0.003163	0	0
TCTE1	202500	broad.mit.edu	37	6	44255463	44255463	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44255463T>G	uc003oxi.2	-	1	256	c.100A>C	c.(100-102)Agc>Cgc	p.S34R	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	34										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCTGTGGGCTTGTGCTTGAA	0.552000														37			20		0	0	0.001061	0	0
OVCH2	341277	broad.mit.edu	37	11	7721935	7721935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7721935C>T	uc010rbf.2	-	6	809	c.809G>A	c.(808-810)aGa>aAa	p.R270K		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)		CACATTGTTTCTCCAGCCTCG	0.507000														9			12		0	0	0.000978	0	0
MTPAP	55149	broad.mit.edu	37	10	30658255	30658255	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30658255C>T	uc001ivb.4	-	3	332	c.-1040_splice	c.e3+1		MTPAP_uc001ivd.2_Splice_Site|MTPAP_uc001ivf.1_Splice_Site	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCAGGTCTCACCTCCTCTGAC	0.493000														15			5		0	0	0.001168	0	0
PADI4	23569	broad.mit.edu	37	1	17681068	17681068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:17681068G>A	uc001baj.2	+	10	1224	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	399					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCAAACAGGGGGTATCAGT	0.572000														41			17		0	0	0.001216	0	0
FHL5	9457	broad.mit.edu	37	6	97051638	97051638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:97051638C>T	uc003pos.2	+	2	565	c.149C>T	c.(148-150)tCt>tTt	p.S50F	FHL5_uc003pot.2_Missense_Mutation_p.S50F	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	50	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCAATTGAATCTGATTCTAAG	0.363000														47			29		0	0	0.002096	0	0
TSPY2	64591	broad.mit.edu	37	Y	6115606	6115606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrY:6115606G>A	uc004fqr.1	+	2	614	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	TSPY2_uc004fqs.1_Missense_Mutation_p.E190K	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN	Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA.	190					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						CTGACAGGTGGAAGAAGAGAA	0.448000														12			29		0	0	0.001271	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442629	22442629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:22442629C>T	uc003xby.3	+	4	1204	c.415C>T	c.(415-417)Cca>Tca	p.P139S	PDLIM2_uc003xbx.2_Missense_Mutation_p.P389S|PDLIM2_uc003xca.3_Missense_Mutation_p.P139S|PDLIM2_uc003xcc.2_Missense_Mutation_p.P139S	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	139	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTTCTCACCACCACCCTCTAG	0.647000														11			47		0	0	0.003610	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447612	3447612	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrY:3447612C>T	uc004fqk.3	+	1	391	c.327C>T	c.(325-327)ctC>ctT	p.L109L	TGIF2LY_uc022ciw.1_Silent_p.L109L	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GACGCATTCTCCCGGATATGC	0.507000														10			43		0	0	0.003610	0	0
IL1RN	3557	broad.mit.edu	37	2	113885270	113885270	+	Silent	SNP	G	A	A	rs2232353		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113885270G>A	uc002tjb.3	+	0	133	c.69G>A	c.(67-69)acG>acA	p.T23T	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Silent_p.T26T|IL1RN_uc002tiy.3_5'UTR|IL1RN_uc002tja.3_Silent_p.T5T	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	23					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATTCAGAGACGATCTGCCGAC	0.542000									Lichen Sclerosis et Atrophicus, Familial Clustering of					22			18		0	0	0.001882	0	0
ABCB8	11194	broad.mit.edu	37	7	150733722	150733722	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150733722C>T	uc003wil.4	+	9	1347	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	ABCB8_uc003wii.2_Silent_p.S438S|ABCB8_uc010lpw.1_Missense_Mutation_p.P302S|ABCB8_uc010lpx.3_Silent_p.S401S|ABCB8_uc011kvd.2_Silent_p.S313S|ABCB8_uc003wim.4_Silent_p.S196S|ABCB8_uc003wik.4_Silent_p.S401S	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	418	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGGCCTCCCAGACAGTGC	0.632000														48			16		0	0	0.000743	0	0
abParts	0	broad.mit.edu	37	14	106721409	106721409	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106721409C>T	uc021ser.1	-	959		c.22672G>A								Parts of antibodies, mostly variable regions.																		ATCTCTAGTTCTCCATTATTT	0.408000														6			6		0	0	0.001984	0	0
RNF219	79596	broad.mit.edu	37	13	79189748	79189748	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:79189748G>A	uc001vkw.1	-	5	2207	c.2148C>T	c.(2146-2148)tcC>tcT	p.S716S	BX647243_uc001vku.1_Intron|RNF219_uc010afb.1_Silent_p.S526S	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	716	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGCTGGCACTGGAAAGGCTGC	0.373000														19			53		0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61613282	61613282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:61613282G>A	uc002jay.3	+	5	1434	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	KCNH6_uc002jax.1_Missense_Mutation_p.D452N|KCNH6_uc010wpl.2_Missense_Mutation_p.D329N|KCNH6_uc010wpm.2_Missense_Mutation_p.D452N|KCNH6_uc002jaz.1_Intron	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	452					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAACGGCAGCGACCCAGCCTC	0.622000														5			19		0	0	0.001216	0	0
USP19	10869	broad.mit.edu	37	3	49149062	49149063	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49149062_49149063GA>AC	uc003cwd.2	-	19	3097_3098	c.2778_2779TC>GT	c.(2776-2781)cttccc>ctGTcc	p.P927S	USP19_uc003cwa.3_Missense_Mutation_p.P735S|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.P1030S|USP19_uc011bcg.2_Missense_Mutation_p.P1018S|USP19_uc003cwc.2_Missense_Mutation_p.P685S|USP19_uc011bch.2_Missense_Mutation_p.P1028S	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	927					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACACCCGGGGAAGCCCTGTGT	0.644000														22			10		0	0	0.004672	0	0
FAT4	79633	broad.mit.edu	37	4	126372845	126372845	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126372845C>T	uc003ifj.4	+	8	10674	c.10674C>T	c.(10672-10674)ttC>ttT	p.F3558F	FAT4_uc011cgp.2_Silent_p.F1856F|FAT4_uc003ifi.1_Silent_p.F1036F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3558	Cadherin 34.				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						CCAGTTATTTCAGTCTGAGCA	0.483000														74			33		0	0	0.002445	0	0
RPL3	6122	broad.mit.edu	37	22	39710186	39710186	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39710186T>A	uc003axi.3	-	6	945	c.877A>T	c.(877-879)Atc>Ttc	p.I293F	RPL3_uc003axh.3_Missense_Mutation_p.I244F|RPL3_uc003axj.3_Missense_Mutation_p.I141F	NM_000967	NP_000958	P39023	RL3_HUMAN	Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1, mRNA.	293					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome	p.L292F(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					CCGTCCTTGATAAGGTAGCCC	0.478000											OREG0026574	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			27		0	0	0.001786	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601033	64601033	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:64601033G>A	uc003dmg.3	-	20	3185	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	ADAMTS9_uc011bfo.2_Silent_p.F1023F|ADAMTS9_uc003dmh.1_Silent_p.F880F|ADAMTS9_uc003dmk.1_Silent_p.F1051F|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1051					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGGACAAGGGAACTCACTGC	0.458000														224			164		0	0	0.003610	0	0
SYK	6850	broad.mit.edu	37	9	93650881	93650881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:93650881G>A	uc004aqz.3	+	12	2012	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	SYK_uc004ara.3_Missense_Mutation_p.D580N|SYK_uc004arb.3_Missense_Mutation_p.D580N|SYK_uc004arc.3_Missense_Mutation_p.D603N|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	603	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.D580H(1)|p.L603L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAGATGTACGATCTCATGAA	0.478000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									4			14		0	0	0.003163	0	0
HDAC9	9734	broad.mit.edu	37	7	19015472	19015472	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:19015472C>T	uc003sui.3	+	23	3107	c.3066C>T	c.(3064-3066)ggC>ggT	p.G1022G	HDAC9_uc003sue.3_Silent_p.G1019G|HDAC9_uc003suj.3_Silent_p.G978G|HDAC9_uc003suk.3_Silent_p.G267G	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCCAAGGGGCTGTGCTCTGG	0.483000														33			14		0	0	0.001855	0	0
HKDC1	80201	broad.mit.edu	37	10	70987058	70987058	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70987058G>A	uc001jpf.4	+	1	292	c.159G>A	c.(157-159)aaG>aaA	p.K53K		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	53					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCCTGGCAAAGGACACCAACC	0.602000														20			16		0	0	0.003163	0	0
LRRC45	201255	broad.mit.edu	37	17	79982614	79982614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:79982614C>T	uc002kde.3	+	2	568	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	110						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGAAAACTCCTCCAACAGAA	0.607000														4			22		0	0	0.003954	0	0
DSG3	1830	broad.mit.edu	37	18	29044075	29044075	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29044075C>T	uc002kws.3	+	9	1109	c.1000_splice	c.e9-1	p.A334_splice		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	334	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)			TTTCTCCAGGCTCTAGATTAT	0.378000														21			9		0	0	0.000673	0	0
OR2T27	403239	broad.mit.edu	37	1	248813789	248813789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248813789G>A	uc010pzo.2	-	0	397	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133H(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGGACAGGATAGTGCAGA	0.547000														24			12		0	0	0.003163	0	0
SYT3	84258	broad.mit.edu	37	19	51135761	51135761	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51135761C>T	uc002pst.3	-	1	1090	c.456G>A	c.(454-456)ggG>ggA	p.G152G	SYT3_uc002psv.3_Silent_p.G152G|SYT3_uc010ycd.2_Silent_p.G152G	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	152						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)		TGTCAGAACCCCCCAGGCTGC	0.657000														6			6		0	0	0.001168	0	0
HDC	3067	broad.mit.edu	37	15	50534745	50534745	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50534745G>A	uc001zxz.3	-	11	2043	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	HDC_uc001zxy.3_Silent_p.S310S|HDC_uc010uff.2_Silent_p.S534S	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	567					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGAACAGGAAGGAGGACAGCT	0.527000														72			63		0	0	0.003610	0	0
LOC646214	646214	broad.mit.edu	37	15	21936726	21936726	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:21936726G>A	uc010tzj.1	-	0		c.4014C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AAATATTGGGGAAAGTGTCTC	0.418000														61			18		0	0	0.000958	0	0
TMEM67	91147	broad.mit.edu	37	8	94767232	94767232	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:94767232C>T	uc011lgk.2	+	0	161	c.90C>T	c.(88-90)ctC>ctT	p.L30L	TMEM67_uc010mau.3_Silent_p.L30L|TMEM67_uc010mav.3_Silent_p.L30L|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Silent_p.L30L|TMEM67_uc003yga.4_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	30					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGTTGTTCCTCCCTCGCTTCT	0.607000														49			63		0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14824054	14824054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:14824054G>A	uc003zlm.3	-	12	2954	c.2138C>T	c.(2137-2139)cCt>cTt	p.P713L	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	713					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGGGCCGTAGGATTCTTAAC	0.433000														1			4		0	0	0.001168	0	0
CEP164	22897	broad.mit.edu	37	11	117279710	117279710	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117279710C>T	uc001prc.3	+	28	3861	c.3714C>T	c.(3712-3714)tcC>tcT	p.S1238S	CEP164_uc001prb.3_Silent_p.S1241S|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.S671S	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1238					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AATCTTTTTCCCCGCCTCACC	0.567000														14			10		0	0	0.000443	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655722	40655722	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:40655722G>A	uc002rrx.3	-	0	1723	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	SLC8A1_uc002rry.3_Nonsense_Mutation_p.R567*|SLC8A1_uc002rsb.2_Nonsense_Mutation_p.R567*|SLC8A1_uc002rrz.3_Nonsense_Mutation_p.R567*|SLC8A1_uc002rsa.3_Nonsense_Mutation_p.R567*|SLC8A1_uc002rsd.4_Nonsense_Mutation_p.R567*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.R567*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.R567*	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	567	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACATTTCCTCGAGCTCCAGAT	0.463000														91			47		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20981148	20981148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20981148C>T	uc010vbe.2	-	51	8424	c.8424G>A	c.(8422-8424)atG>atA	p.M2808I	DNAH3_uc010vbd.2_Missense_Mutation_p.M243I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2808	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTCTGGCTTCATCCCTTTCA	0.607000														60			47		0	0	0.003610	0	0
EBF3	253738	broad.mit.edu	37	10	131755539	131755539	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:131755539G>A	uc021qav.1	-	5	596	c.495C>T	c.(493-495)gaC>gaT	p.D165D	EBF3_uc001lki.2_Silent_p.D179D	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	179					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGATTACAGGGTCTGAGGGCG	0.418000														34			23		0	0	0.001061	0	0
PSMD3	5709	broad.mit.edu	37	17	38142926	38142926	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38142926C>T	uc002htn.1	+	2	674	c.510C>T	c.(508-510)ctC>ctT	p.L170L	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.L71L	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	170					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			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)					TCCAACTCCTCGTGGTCATCT	0.552000														20			79		0	0	0.003610	0	0
ACAT2	39	broad.mit.edu	37	6	160188084	160188084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:160188084C>T	uc010kjy.3	+	2	369	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	ACAT2_uc011efw.2_Missense_Mutation_p.P109S	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), mRNA.	80						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGCAGGAATTCCCTACTCTGT	0.498000														43			34		0	0	0.001951	0	0
ZNF160	90338	broad.mit.edu	37	19	53571981	53571981	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53571981A>T	uc010eqk.3	-	6	2222	c.1806T>A	c.(1804-1806)ttT>ttA	p.F602L	ZNF160_uc002qaq.4_Missense_Mutation_p.F602L|ZNF160_uc002qar.4_Missense_Mutation_p.F602L	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	602					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACGATCACTAAAGGCTCTGC	0.408000														62			43		0	0	0.002222	0	0
GJA1	2697	broad.mit.edu	37	6	121768107	121768107	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:121768107G>A	uc003pyr.3	+	1	364	c.114G>A	c.(112-114)ggG>ggA	p.G38G	GJA1_uc011ebo.1_Intron|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Silent_p.G38G	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	38					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGCTGCTGGGGACAGCGGTTG	0.507000														39			26		0	0	0.001061	0	0
KCTD14	65987	broad.mit.edu	37	11	77734242	77734242	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:77734242G>A	uc001oyw.4	-	0	79	c.54C>T	c.(52-54)acC>acT	p.T18T	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	18						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGGGCAGAGGGGTCTGGCTCG	0.711000														23			19		0	0	0.002780	0	0
JAK2	3717	broad.mit.edu	37	9	5069174	5069174	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:5069174C>T	uc010mhm.3	+	9	1592	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	JAK2_uc003ziw.3_Silent_p.F493F	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	493					JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ATATAATTTTCCAGTTTACTA	0.353000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					10			20		0	0	0.002780	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040047	102040047	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:102040047C>T	uc011kkr.1	+	2	313	c.258C>T	c.(256-258)cgC>cgT	p.R86R	PRKRIP1_uc011kkq.1_Silent_p.R29R|PRKRIP1_uc003uzh.2_Silent_p.R86R			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	86	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						GACATCTGCGCCGGAGAGAAT	0.542000														14			99		0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803675	185803675	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185803675C>T	uc002uph.3	+	3	4146	c.3552C>T	c.(3550-3552)ttC>ttT	p.F1184F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1184						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCTGGCTTTCCCATCTTTAC	0.488000														70			66		0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515671	47515671	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47515671G>A	uc001cqt.3	+	12	1606	c.1356_splice	c.e12-1	p.R452_splice	CYP4X1_uc001cqr.3_Splice_Site_p.R451_splice|CYP4X1_uc001cqs.3_Splice_Site_p.R387_splice	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	452						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTTGTCTTCAGGAACTGCATT	0.408000														99			59		0	0	0.003610	0	0
ANO3	63982	broad.mit.edu	37	11	26655756	26655756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:26655756C>T	uc001mqt.4	+	18	2024	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ANO3_uc010rdr.2_Missense_Mutation_p.P611S|ANO3_uc010rds.2_Missense_Mutation_p.P466S|ANO3_uc010rdt.2_Missense_Mutation_p.P481S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	627						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTTAGAATATCCTCGAACAGA	0.418000														17			9		0	0	0.001368	0	0
FBN3	84467	broad.mit.edu	37	19	8188379	8188379	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8188379G>A	uc002mjf.3	-	22	3068	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1017	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCAGGGCGAAGCCCCCCG	0.597000														12			9		0	0	0.004482	0	0
CFTR	1080	broad.mit.edu	37	7	117230453	117230453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:117230453G>A	uc003vjd.3	+	12	1858	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	576	ABC transporter 1.		G -> A (in dbSNP:rs1800098).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTCTCCTTTTGGATACCTAGA	0.289000									Cystic Fibrosis					82			83		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141625219	141625219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141625219G>A	uc002tvj.1	-	26	5491	c.4519C>T	c.(4519-4521)Cag>Tag	p.Q1507*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.Q689*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1507					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)		CTGGTTTTCTGAATCACACTG	0.473000										TSP Lung(27;0.18)				49			40		0	0	0.002222	0	0
DMBT1	1755	broad.mit.edu	37	10	124390787	124390787	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124390787C>T	uc001lgk.1	+	45	6055	c.5949C>T	c.(5947-5949)gtC>gtT	p.V1983V	DMBT1_uc001lgl.1_Silent_p.V1973V|DMBT1_uc001lgm.1_Silent_p.V1355V|DMBT1_uc021qaf.1_Silent_p.V1983V|DMBT1_uc021qag.1_Silent_p.V1973V|DMBT1_uc021qah.1_Silent_p.V1355V|DMBT1_uc009xzz.1_Silent_p.V1983V|DMBT1_uc010qtx.1_Silent_p.V703V|DMBT1_uc009yab.1_Silent_p.V686V|DMBT1_uc009yac.1_Silent_p.V277V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1983	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			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)				ATGCTGGTGTCATCTGCTCAG	0.537000														54			35		0	0	0.001485	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694141	129694141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129694141G>A	uc009zyl.1	-	4	1695	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	456						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCCTCCACGGAGACCACTTT	0.572000														15			8		0	0	0.003080	0	0
REN	5972	broad.mit.edu	37	1	204129755	204129755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:204129755C>T	uc001haq.2	-	3	469	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	142					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GAGTTCTGTTCCATTGTGCTT	0.562000														44			42		0	0	0.002222	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569306	173569306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173569306G>A	uc001giz.2	-	2	601	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	60					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATAGAGAAAGAATCGTCAAA	0.333000														41			41		0	0	0.002852	0	0
ADCY1	107	broad.mit.edu	37	7	45753424	45753424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45753424C>T	uc003tne.4	+	19	3208	c.3190C>T	c.(3190-3192)Caa>Taa	p.Q1064*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1064					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)	AAACGGCTCCCAAATCAGGTC	0.567000														51			35		0	0	0.001485	0	0
LIPC	3990	broad.mit.edu	37	15	58855704	58855705	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:58855704_58855705GG>AA	uc010bga.2	+	10	1778	c.1170_splice	c.e10-1	p.L390_splice	LIPC_uc010bfz.1_Splice_Site_p.L390_splice|LIPC_uc002afa.2_Splice_Site_p.L390_splice|LIPC_uc010bgb.1_Splice_Site_p.L288_splice|LIPC_uc010ugy.2_Splice_Site_p.L329_splice	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	390	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGTATTCAAGGGGCAAAGGAAT	0.416000														15			11		0	0	0.004672	0	0
DLAT	1737	broad.mit.edu	37	11	111915933	111915933	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111915933C>T	uc001pmo.3	+	8	1928	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	DLAT_uc010rwr.2_Silent_p.I296I|DLAT_uc021qqn.1_Silent_p.I367I	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	423	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TCACAGATATCCCAATCAGCA	0.463000														72			61		0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196876092	196876092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:196876092G>A	uc001gtp.3	+	3	678	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.E180K|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	541	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGATGGATATGAAAGCAGTTA	0.383000														16			24		0	0	0.003330	0	0
BCL9	607	broad.mit.edu	37	1	147086262	147086262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:147086262C>T	uc001epq.3	+	5	1147	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BCL9_uc010ozr.1_Missense_Mutation_p.S62F	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	136					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCCAGGATTCCCAGCACACA	0.463000			T	"""IGH@, IGL@"""	B-ALL									24			29		0	0	0.001786	0	0
BUD13	84811	broad.mit.edu	37	11	116633887	116633887	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:116633887G>T	uc001ppn.3	-	3	452	c.418C>A	c.(418-420)Cct>Act	p.P140T	BUD13_uc001ppo.3_Missense_Mutation_p.P140T|BUD13_uc009yzc.3_Missense_Mutation_p.P140T	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	140	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCCTTCCTAGGAGATGGATCT	0.562000														177			112		3.89651e-80	8.23509e-80	0.003610	1	0
DNAH10	196385	broad.mit.edu	37	12	124363814	124363814	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124363814C>T	uc001uft.4	+	47	8047	c.8022C>T	c.(8020-8022)ttC>ttT	p.F2674F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2674					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)		TCTGCAGATTCCAGACGGTGG	0.527000														5			3		0	0	0.000248	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931311	62931311	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62931311C>T	uc001nwr.1	-	8	1629	c.1629G>A	c.(1627-1629)agG>agA	p.R543R	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	543					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCACAGAGCTCCTCTGAGGGG	0.498000														45			39		0	0	0.002222	0	0
CCDC83	220047	broad.mit.edu	37	11	85593607	85593607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:85593607G>A	uc001pbg.1	+	3	744	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	CCDC83_uc001pbh.1_Missense_Mutation_p.E78K|CCDC83_uc001pbj.1_Missense_Mutation_p.E35K|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	78										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTAAAGGAACTGAGTGA	0.393000														48			27		0	0	0.001061	0	0
MME	4311	broad.mit.edu	37	3	154886527	154886528	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:154886527_154886528GG>AA	uc010hvr.1	+	19	2132_2133	c.1921_1922GG>AA	c.(1921-1923)gga>AAa	p.G641K	MME_uc003fab.1_Missense_Mutation_p.G641K|MME_uc003fac.1_Missense_Mutation_p.G641K|MME_uc003fad.1_Missense_Mutation_p.G641K|MME_uc003fae.1_Missense_Mutation_p.G641K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	641					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACAGCTTAATGGAATTAATACA	0.297000														34			27		0	0	0.004672	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067478	103067478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103067478G>A	uc002tbx.3	+	10	1865	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	IL18RAP_uc010fiz.3_Missense_Mutation_p.G319R	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	461	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGCTCCAGGAGGAGGTAAGTC	0.403000														33			24		0	0	0.003330	0	0
EXOC4	60412	broad.mit.edu	37	7	133160191	133160191	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:133160191A>T	uc003vrk.3	+	7	1327	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M	EXOC4_uc011kpo.2_Missense_Mutation_p.K330M|EXOC4_uc003vri.3_Missense_Mutation_p.K431M|EXOC4_uc003vrj.3_Missense_Mutation_p.K431M	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	431					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTTTTTGCCAAGAAGAAACCT	0.383000														150			49		0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	227968695	227968695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227968695C>T	uc021vxr.1	-	11	910	c.809G>A	c.(808-810)gGa>gAa	p.G270E	COL4A4_uc021vxs.1_Missense_Mutation_p.G270E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	270	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTTCTCCTTTATAGAG	0.398000														26			18		0	0	0.001523	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569512	119569512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:119569512C>T	uc003pym.1	-	5	1347	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MAN1A1_uc010kei.2_Missense_Mutation_p.R325Q	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	302					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCTTTCTTTCGAAAAATCTG	0.348000														15			11		0	0	0.001368	0	0
MYO5C	55930	broad.mit.edu	37	15	52497080	52497080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:52497080C>T	uc010bff.3	-	37	4964	c.4802G>A	c.(4801-4803)aGa>aAa	p.R1601K	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1601	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATCCCTTTTCTGCAGGAGCA	0.602000														19			6		0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13885242	13885242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13885242C>T	uc003jfd.2	-	18	2881	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	947	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)					ATCTCAGTTTCTTTCTTTTTC	0.428000									Kartagener syndrome					38			31		0	0	0.002836	0	0
SERPINB3	6317	broad.mit.edu	37	18	61304963	61304963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61304963G>A	uc002ljf.3	-	7	1249	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	SERPINB3_uc002lje.3_Missense_Mutation_p.S367L|SERPINB3_uc002ljg.3_Missense_Mutation_p.S388L	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	388					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTATGGGGATGAGAATCTGCC	0.403000														79			44		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	39025971	39025971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39025971C>T	uc002oit.3	+	80	11585	c.11455C>T	c.(11455-11457)Ctt>Ttt	p.L3819F	RYR1_uc002oiu.3_Missense_Mutation_p.L3814F|RYR1_uc002oiv.1_Missense_Mutation_p.L734F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3819					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGATTATCTTAAGGACAA	0.498000														30			33		0	0	0.005524	0	0
RIF1	55183	broad.mit.edu	37	2	152325177	152325177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152325177C>T	uc002txm.3	+	32	7009	c.6848C>T	c.(6847-6849)tCc>tTc	p.S2283F	RIF1_uc002txn.3_Missense_Mutation_p.S2257F|RIF1_uc002txl.3_Missense_Mutation_p.S2257F|RIF1_uc002txo.3_Missense_Mutation_p.S2257F|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2283	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCAAAGAATCCATACCATGC	0.373000														53			26		0	0	0.001061	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644876	54644876	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:54644876G>A	uc009vzo.3	-	6	1010	c.690C>T	c.(688-690)ttC>ttT	p.F230F	CYB5RL_uc001cww.3_Silent_p.F120F|CYB5RL_uc001cwy.4_Silent_p.F82F|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	230							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTCTTGGAGGAAGGTTTTCA	0.488000														12			12		0	0	0.003163	0	0
OPRK1	4986	broad.mit.edu	37	8	54147659	54147659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:54147659C>T	uc003xrh.1	-	1	645	c.270G>A	c.(268-270)atG>atA	p.M90I	OPRK1_uc022aup.1_Intron|OPRK1_uc003xri.1_Missense_Mutation_p.M90I|OPRK1_uc010lyc.1_Missense_Mutation_p.M1I	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	90					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TTGCTGTCTTCATCTTTGTGT	0.373000														54			45		0	0	0.002852	0	0
COMMD9	29099	broad.mit.edu	37	11	36302330	36302330	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:36302330G>T	uc001mwn.4	-	1	146	c.109C>A	c.(109-111)Ctt>Att	p.L37I	COMMD9_uc009ykj.3_Intron|COMMD9_uc010rfb.1_Missense_Mutation_p.L37I	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	Homo sapiens COMM domain containing 9 (COMMD9), transcript variant 1, mRNA.	37										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TTCAAGCCAAGGGCTGAACTG	0.433000														80			6		0.00198382	0.00412773	0.001984	1	0
HMOX1	3162	broad.mit.edu	37	22	35783086	35783086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:35783086C>T	uc003ant.2	+	2	660	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	185					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTACCGCTCCCGCATGAACTC	0.612000														41			24		0	0	0.003330	0	0
OR2T12	127064	broad.mit.edu	37	1	248458170	248458170	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248458170G>A	uc010pzj.2	-	0	711	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237D(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			AAGAGCAGGTGGCAAAGGCCT	0.527000														51			35		0	0	0.003755	0	0
EPHB3	2049	broad.mit.edu	37	3	184295742	184295742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184295742G>A	uc003foz.3	+	7	2133	c.1696G>A	c.(1696-1698)Gct>Act	p.A566T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	566						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTCCGCTACAGCTGGGCTTGT	0.627000														43			28		0	0	0.002096	0	0
GLP2R	9340	broad.mit.edu	37	17	9760827	9760827	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:9760827C>T	uc002gmd.1	+	5	699	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	233					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGAAGGACGTCGTCTTCTACA	0.502000														7			25		0	0	0.001061	0	0
KBTBD12	166348	broad.mit.edu	37	3	127702959	127702959	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:127702959C>T	uc010hsr.3	+	4	1713	c.1710C>T	c.(1708-1710)tcC>tcT	p.S570S	KBTBD12_uc003ejy.4_Silent_p.S177S|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Silent_p.S145S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	570										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGGTTATCTCCAAAGAAATAT	0.438000														58			34		0	0	0.004289	0	0
TET1	80312	broad.mit.edu	37	10	70411644	70411644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70411644C>T	uc001jok.4	+	4	4823	c.4318C>T	c.(4318-4320)Ctt>Ttt	p.L1440F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1440					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTATACACACCTTGGGGCAGG	0.423000														100			57		0	0	0.003610	0	0
DIDO1	11083	broad.mit.edu	37	20	61542308	61542308	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61542308G>A	uc002ydr.2	-	2	969	c.657C>T	c.(655-657)ccC>ccT	p.P219P	DIDO1_uc002yds.2_Silent_p.P219P|DIDO1_uc002ydt.2_Silent_p.P219P|DIDO1_uc002ydu.2_Silent_p.P219P|DIDO1_uc002ydv.2_Silent_p.P219P|DIDO1_uc002ydw.2_Silent_p.P219P|DIDO1_uc002ydx.2_Silent_p.P219P|DIDO1_uc011aao.1_Silent_p.P219P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	219					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GATCGTTCTCGGGCTCCTGCT	0.627000														56			20		0	0	0.000958	0	0
CLEC1A	51267	broad.mit.edu	37	12	10223953	10223953	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:10223953T>G	uc001qxb.3	-	5	906	c.822A>C	c.(820-822)gaA>gaC	p.E274D	CLEC1A_uc001qxd.3_Missense_Mutation_p.E231D|CLEC1A_uc010sgx.2_Missense_Mutation_p.E172D	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	274					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CGCCTAATGTTTCAGGGGGGA	0.507000														66			39		0	0	0.002522	0	0
PEX16	9409	broad.mit.edu	37	11	45935740	45935740	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:45935740G>A	uc001nbt.3	-	7	1021	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	PEX16_uc001nbu.3_Silent_p.L237L	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	237	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGACCCCACAGGCCCAGGCTG	0.642000														7			5		0	0	0.000602	0	0
FOXK1	221937	broad.mit.edu	37	7	4780636	4780636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:4780636C>T	uc003snc.1	+	1	738	c.728C>T	c.(727-729)tCc>tTc	p.S243F	FOXK1_uc003sna.1_Missense_Mutation_p.S80F|FOXK1_uc003snb.1_Missense_Mutation_p.S243F	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	243					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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	p.S243F(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCGTCCCCTCCCCGACGGGC	0.701000														13			7		0	0	0.003080	0	0
ADAD1	132612	broad.mit.edu	37	4	123301332	123301332	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:123301332C>T	uc003ieo.3	+	2	340	c.108C>T	c.(106-108)ccC>ccT	p.P36P	ADAD1_uc003iep.3_Silent_p.P36P|ADAD1_uc003ieq.3_Silent_p.P18P	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	36					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAACTACACCCACAGGATGGT	0.473000														36			22		0	0	0.003954	0	0
CRYBA1	1411	broad.mit.edu	37	17	27581346	27581346	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:27581346G>A	uc002hdw.3	+	5	634	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	209	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGATCCAATCGATTCGCCGAA	0.438000														22			105		0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691792	77691792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77691792G>A	uc011cbx.2	+	9	6316	c.5363G>A	c.(5362-5364)gGa>gAa	p.G1788E	SHROOM3_uc003hkg.3_Missense_Mutation_p.G1566E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1788	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGCTCATTGGAAGTCTCACC	0.572000														21			25		0	0	0.001512	0	0
OR10A7	121364	broad.mit.edu	37	12	55615096	55615096	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55615096C>T	uc010spf.2	+	0	288	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	96			G -> S (in dbSNP:rs12578318).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V95V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CTTTTGTGGGCTGTGGTACCC	0.418000														82			53		0	0	0.003610	0	0
ALK	238	broad.mit.edu	37	2	29416108	29416108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29416108C>T	uc002rmy.3	-	28	5797	c.4845G>A	c.(4843-4845)atG>atA	p.M1615I	ALK_uc010ymo.2_Missense_Mutation_p.M547I	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1615					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGGCTGGTTCATGCTATTCT	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					28			18		0	0	0.000743	0	0
SMCR7L	54471	broad.mit.edu	37	22	39908004	39908004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39908004C>T	uc003axw.3	+	3	792	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axx.3_Missense_Mutation_p.P99S|SMCR7L_uc003axy.3_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	99						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GCAGACCCTTCCCACAGACTC	0.592000														46			24		0	0	0.001786	0	0
SGSM2	9905	broad.mit.edu	37	17	2264968	2264969	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2264968_2264969CC>TT	uc002fum.4	+	2	348_349	c.171_172CC>TT	c.(169-174)cgccgt>cgTTgt	p.R58C	SGSM2_uc002fun.4_Missense_Mutation_p.R58C|SGSM2_uc010vqw.2_Missense_Mutation_p.R58C|SGSM2_uc021tnp.1_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	58	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCTGAGACGCCGTGCCGCTGG	0.604000														3			22		0	0	0.004672	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281662	140281662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:140281662C>T	uc003etn.3	+	13	2412	c.2222C>T	c.(2221-2223)tCc>tTc	p.S741F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	741					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTGTGGGCTCCATGAGCCGC	0.567000										HNSCC(16;0.037)				21			14		0	0	0.000958	0	0
DNAH8	1769	broad.mit.edu	37	6	38890883	38890883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38890883C>T	uc021yzh.1	+	71	10821	c.10712C>T	c.(10711-10713)tCc>tTc	p.S3571F	DNAH8_uc003ooe.2_Missense_Mutation_p.S3354F|LOC100131047_uc003oof.2_Non-coding_Transcript	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGGCCGCCTCCACTCTCATC	0.448000														25			13		0	0	0.001368	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685307	77685307	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77685307G>A	uc001xtf.2	+	3	362	c.150_splice	c.e3+1	p.V50_splice	TMEM63C_uc010asq.1_Splice_Site_p.V50_splice	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	50						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGTGGGTGGTGAGTCCTGG	0.592000														1			4		0	0	0.000248	0	0
MBD5	55777	broad.mit.edu	37	2	149247034	149247034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:149247034C>T	uc002twm.4	+	11	4131	c.3134C>T	c.(3133-3135)cCa>cTa	p.P1045L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Missense_Mutation_p.P303L|MBD5_uc002twp.3_Missense_Mutation_p.P95L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1045						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGAGAATCCAAACACTACA	0.473000														26			18		0	0	0.000958	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545136	196545136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196545136C>T	uc002utg.4	+	1	584	c.370C>T	c.(370-372)Cac>Tac	p.H124Y	SLC39A10_uc002uth.4_Missense_Mutation_p.H124Y|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	124	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AAAGCATTTTCACTCACATAA	0.368000														44			31		0	0	0.003271	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27867414	27867415	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:27867414_27867415GG>TT	uc003szl.3	+	15	2325_2326	c.2143_2144GG>TT	c.(2143-2145)ggg>TTg	p.G715L	TAX1BP1_uc011jzo.2_Missense_Mutation_p.G673L|TAX1BP1_uc003szk.3_Missense_Mutation_p.G673L|TAX1BP1_uc011jzp.2_Missense_Mutation_p.G516L	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	715					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACGTGGGCATGGGACAGGCTTT	0.411000														506			12		0	0	0.004672	0	0
KCNK9	51305	broad.mit.edu	37	8	140631107	140631107	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140631107G>A	uc003yvf.1	-	1	583	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_uc003yvg.1_Silent_p.I173I|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	173						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGCCGCCCCGATGCACAGCG	0.562000														20			9		0	0	0.000673	0	0
CDH9	1007	broad.mit.edu	37	5	26889965	26889965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26889965C>T	uc003jgs.1	-	8	1661	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CDH9_uc011cnv.1_Missense_Mutation_p.E91K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGCATTTTCACAAACAAAT	0.313000														49			9		0	0	0.004482	0	0
PDGFC	56034	broad.mit.edu	37	4	157689052	157689052	+	Missense_Mutation	SNP	C	T	T	rs138079287		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:157689052C>T	uc003iph.2	-	4	1285	c.794G>A	c.(793-795)aGa>aAa	p.R265K	PDGFC_uc003ipi.2_Missense_Mutation_p.R102K|PDGFC_uc011cis.2_Missense_Mutation_p.R102K|PDGFC_uc011cir.2_Missense_Mutation_p.R109K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	265					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGTATCGGTTCTCTTTAGTTC	0.453000														65			41		0	0	0.002222	0	0
HCN1	348980	broad.mit.edu	37	5	45462053	45462053	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:45462053G>A	uc003jok.3	-	2	931	c.906C>T	c.(904-906)atC>atT	p.I302I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	302						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.I302I(2)|p.I302F(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCATCATGCCGATGAGATTAA	0.393000														23			20		0	0	0.001523	0	0
TFEC	22797	broad.mit.edu	37	7	115582074	115582074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:115582074C>T	uc003vhj.2	-	6	789	c.536G>A	c.(535-537)gGa>gAa	p.G179E	TFEC_uc003vhm.2_Missense_Mutation_p.G112E|TFEC_uc003vhk.2_Missense_Mutation_p.G150E|TFEC_uc003vhl.4_Missense_Mutation_p.G150E|TFEC_uc011kmw.2_Missense_Mutation_p.G269E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	179	Helix-loop-helix motif.					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)			TAGAATGGTTCCTTTGTTCCA	0.383000														118			55		0	0	0.003610	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921493	159921493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159921493C>T	uc001fus.3	-	3	945	c.828G>A	c.(826-828)atG>atA	p.M276I	SLAMF9_uc009wtd.3_Missense_Mutation_p.M185I|SLAMF9_uc001fut.3_3'UTR	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	276						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTCAATTTCATTCTGTTTC	0.507000														66			29		0	0	0.002096	0	0
CEL	1056	broad.mit.edu	37	9	135946631	135946631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:135946631C>T	uc010naa.1	+	10	1767	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	581	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAGACCGCCCCCGTGCCGCCC	0.801000														7			42		0	0	0.002522	0	0
WDR49	151790	broad.mit.edu	37	3	167246850	167246850	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:167246850C>T	uc003fev.1	-	9	1644	c.1340G>A	c.(1339-1341)tGg>tAg	p.W447*	WDR49_uc003feu.1_Nonsense_Mutation_p.W272*|WDR49_uc011bpd.1_Nonsense_Mutation_p.W511*|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	447										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTCTATATTCCAGATTTTCAA	0.358000														32			19		0	0	0.002299	0	0
PRB2	653247	broad.mit.edu	37	12	11546267	11546267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546267C>T	uc010shk.1	-	2	780	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTTGCCTCCTTGTGGGGGT	0.607000														78			41		0	0	0.003610	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261089	21261089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21261089C>T	uc010bwp.1	+	1	245	c.202C>T	c.(202-204)Cct>Tct	p.P68S	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	68										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GGGAAACACTCCTCTACATTT	0.473000														26			14		0	0	0.000958	0	0
COL6A2	1292	broad.mit.edu	37	21	47542842	47542842	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:47542842A>G	uc002zia.1	+	20	1744	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K	COL6A2_uc002zhz.1_Silent_p.K554K|COL6A2_uc002zhy.1_Silent_p.K554K	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	554	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGAGAGAAAGGAGAGCCTG	0.587000														25			9		0	0	0.000673	0	0
KCNH5	27133	broad.mit.edu	37	14	63447650	63447650	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:63447650C>T	uc001xfx.3	-	5	933	c.882G>A	c.(880-882)gtG>gtA	p.V294V	KCNH5_uc001xfy.3_Silent_p.V294V|KCNH5_uc001xfz.1_Silent_p.V236V|KCNH5_uc001xga.3_Silent_p.V236V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCAGATCGATCACAAACCAAG	0.408000														4			51		0	0	0.003610	0	0
NOX4	50507	broad.mit.edu	37	11	89135619	89135619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89135619C>T	uc001pct.3	-	8	960	c.721G>A	c.(721-723)Gag>Aag	p.E241K	NOX4_uc009yvr.3_Missense_Mutation_p.E216K|NOX4_uc001pcu.3_Missense_Mutation_p.E167K|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.E241K|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.E75K|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.E217K|NOX4_uc009yvq.3_Missense_Mutation_p.E217K|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	241	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAGAAATACTCTGGTAAGGAA	0.413000														92			60		0	0	0.003610	0	0
GPR148	344561	broad.mit.edu	37	2	131487351	131487351	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:131487351C>T	uc002trv.2	+	0	709	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCATGGGCACCCAGCCGGGAT	0.547000														54			29		0	0	0.003755	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312445	68312445	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:68312445T>A	uc001onv.3	+	3	634	c.367T>A	c.(367-369)Ttc>Atc	p.F123I	PPP6R3_uc010rqb.1_Missense_Mutation_p.F32I|PPP6R3_uc001onw.3_Missense_Mutation_p.F123I|PPP6R3_uc001ony.4_Missense_Mutation_p.F123I|PPP6R3_uc001onx.3_Missense_Mutation_p.F123I|PPP6R3_uc009ysh.3_Missense_Mutation_p.F123I|PPP6R3_uc001onu.3_Missense_Mutation_p.F123I|PPP6R3_uc010rqc.2_Missense_Mutation_p.F32I	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	123					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGCCAGTTTCTTCAGCAA	0.398000														40			22		0	0	0.003330	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317386	30317386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30317386C>T	uc009xle.2	-	2	1828	c.1691G>A	c.(1690-1692)gGg>gAg	p.G564E	KIAA1462_uc001iux.3_Missense_Mutation_p.G564E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G426E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	564										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						GGTCCGAGTCCCAGTTTGGAA	0.458000														63			43		0	0	0.002522	0	0
KRT74	121391	broad.mit.edu	37	12	52965768	52965768	+	Missense_Mutation	SNP	C	T	T	rs143284700		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52965768C>T	uc001sap.1	-	2	755	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	236	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGTCGTGCGCCGGTTAATCTC	0.522000														80			29		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164757744	164757744	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164757744C>T	uc003fei.3	-	18	2238	c.2175G>A	c.(2173-2175)acG>acA	p.T725T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	725	Isomaltase.				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)	TCCAGCTGTTCGTATCCTCAT	0.333000										HNSCC(35;0.089)				84			59		0	0	0.003610	0	0
GPR63	81491	broad.mit.edu	37	6	97246357	97246357	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:97246357C>T	uc010kcl.3	-	2	1729	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	GPR63_uc003pou.3_Silent_p.T417T|GPR63_uc021zcy.1_Silent_p.T417T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	417						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R416W(1)		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)		TTCACACCACCGTCCGATGTT	0.438000														25			16		0	0	0.001216	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709044	78709044	+	Silent	SNP	G	A	A	rs2229009	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:78709044G>A	uc001jxn.3	-	21	2742	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	KCNMA1_uc021ptu.1_Silent_p.I747I|KCNMA1_uc001jxj.2_Silent_p.I801I|KCNMA1_uc001jxk.1_Silent_p.I473I|KCNMA1_uc009xrt.1_Silent_p.I646I|KCNMA1_uc001jxl.1_Silent_p.I480I|KCNMA1_uc001jxo.3_Silent_p.I838I|KCNMA1_uc001jxm.3_Silent_p.I797I|KCNMA1_uc001jxq.3_Silent_p.I800I	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	855	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCGGAGGCCGATCAGGGCTG	0.562000														19			19		0	0	0.001216	0	0
GMEB2	26205	broad.mit.edu	37	20	62223911	62223911	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62223911G>A	uc002yfp.1	-	6	1283	c.804C>T	c.(802-804)gtC>gtT	p.V268V	GMEB2_uc002yfo.1_Silent_p.V190V|GMEB2_uc002yfq.1_Silent_p.V268V	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	268					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GAGGGTCCTGGACCCGCTGCT	0.652000														11			24		0	0	0.002780	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43576076G>A	uc002ovr.3	-	3	912	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	247	Ig-like C2-type 2.				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)				ATTGGTGTATGAAGGGTGAAT	0.483000														89			51		0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23886092	23886092	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23886092G>A	uc001wjx.3	-	32	4735	c.4629C>T	c.(4627-4629)gcC>gcT	p.A1543A		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1543					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)		CCTCCTCCAGGGCTGACTGCA	0.597000														12			40		0	0	0.001706	0	0
HTN1	3346	broad.mit.edu	37	4	70918796	70918796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70918796G>A	uc003hex.3	+	1	70	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002159	NP_002150	P15515	HIS1_HUMAN	Homo sapiens histatin 1 (HTN1), mRNA.	1					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGCCAACTATGAAGTTTTTTG	0.313000														29			16		0	0	0.000743	0	0
IGSF5	150084	broad.mit.edu	37	21	41143056	41143056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41143056G>A	uc002yyo.3	+	3	735	c.632G>A	c.(631-633)gGg>gAg	p.G211E		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	211	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAGAGCAATGGGACTTTGACT	0.527000														42			16		0	0	0.004990	0	0
PTCH1	5727	broad.mit.edu	37	9	98220325	98220325	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:98220325G>A	uc004avk.4	-	17	3326	c.3138C>T	c.(3136-3138)ttC>ttT	p.F1046F	PTCH1_uc010mro.3_Silent_p.F895F|PTCH1_uc010mrp.3_Silent_p.F895F|PTCH1_uc010mrq.3_Silent_p.F895F|PTCH1_uc004avl.4_Silent_p.F895F|PTCH1_uc004avm.4_Silent_p.F1045F|PTCH1_uc010mrr.3_Silent_p.F980F	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1046					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.F1046F(3)|p.I963fs*2(1)|p.F1045F(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGTTCAGAAGGAAGACAGCGC	0.552000														7			28		0	0	0.004656	0	0
JDP2	122953	broad.mit.edu	37	14	75928189	75928189	+	Nonsense_Mutation	SNP	C	T	T	rs3178799		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:75928189C>T	uc001xrq.3	+	2	488	c.295C>T	c.(295-297)Cga>Tga	p.R99*	JDP2_uc010asj.3_Nonsense_Mutation_p.R88*|JDP2_uc010tvb.2_Nonsense_Mutation_p.R88*|JDP2_uc010tvc.2_Nonsense_Mutation_p.R88*	NM_001135049	NP_569736	Q8WYK2	JDP2_HUMAN	Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA.	88						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		CGCAGCAGCCCGATGCCGGAA	0.592000														5			15		0	0	0.000743	0	0
RASGRF1	5923	broad.mit.edu	37	15	79265704	79265704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:79265704C>T	uc002beq.3	-	25	3976	c.3601G>A	c.(3601-3603)Gag>Aag	p.E1201K	RASGRF1_uc002bep.3_Missense_Mutation_p.E1185K|RASGRF1_uc002beo.3_Missense_Mutation_p.E417K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	1203	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCCCCTCCTCGATGAAGGCC	0.547000														38			18		0	0	0.004990	0	0
SLC6A13	6540	broad.mit.edu	37	12	344366	344366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:344366G>A	uc001qic.2	-	6	811	c.721C>T	c.(721-723)Cct>Tct	p.P241S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P241S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P149S|SLC6A13_uc010sdm.1_Missense_Mutation_p.P122S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	241					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGAGGTAAGGAAATGTGGCC	0.562000														9			12		0	0	0.002450	0	0
SCN1A	6323	broad.mit.edu	37	2	166866347	166866347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166866347G>A	uc002udo.4	-	21	4111	c.3884C>T	c.(3883-3885)tCa>tTa	p.S1295L	SCN1A_uc010fpk.3_Missense_Mutation_p.S1267L|SCN1A_uc021vsb.1_Missense_Mutation_p.S1284L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1295						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y1295C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTGACCAATGAAACCTGCAC	0.338000														35			19		0	0	0.001523	0	0
DPYD	1806	broad.mit.edu	37	1	98039398	98039398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:98039398C>T	uc001drv.3	-	10	1394	c.1257G>A	c.(1255-1257)tgG>tgA	p.W419*		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	419					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CATCTTCATTCCATTTTCCAG	0.453000														50			44		0	0	0.003610	0	0
OR4D10	390197	broad.mit.edu	37	11	59245693	59245693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59245693C>T	uc001nnz.1	+	0	791	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264P(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTTCACTGCCCTCCCCATG	0.562000														60			41		0	0	0.002852	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143829	1143829	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1143829T>C	uc010uuw.1	-	3	705	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_207419	NP_997302	P60827	C1QT8_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA.	144	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GCCGTCCAGGTTCACCAGCTC	0.692000														18			6		0	0	0.001168	0	0
LPHN2	23266	broad.mit.edu	37	1	82417794	82417794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:82417794G>A	uc001dit.4	+	8	1931	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.E584K|LPHN2_uc001div.3_Missense_Mutation_p.E584K|LPHN2_uc009wcd.3_Missense_Mutation_p.E584K|LPHN2_uc001diw.3_Missense_Mutation_p.E155K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	584					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)		GAAACCTAGTGAAAAAGATTC	0.433000														25			23		0	0	0.003954	0	0
C6orf118	168090	broad.mit.edu	37	6	165715313	165715313	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:165715313C>T	uc003qum.4	-	1	534	c.498G>A	c.(496-498)cgG>cgA	p.R166R	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	166			R -> L (in dbSNP:rs36007498).							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)		CAGGAGGGCCCCGTCCAGGAG	0.632000														24			18		0	0	0.001216	0	0
OR8B12	219858	broad.mit.edu	37	11	124413475	124413475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124413475G>A	uc010sam.2	-	0	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P25L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGGAAGAAGAGGGGGATCCGC	0.537000														28			19		0	0	0.000958	0	0
CD276	80381	broad.mit.edu	37	15	73994885	73994885	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:73994885C>T	uc002avv.1	+	2	603	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Silent_p.F123F|CD276_uc002avw.1_Silent_p.F123F|CD276_uc010ulb.1_Silent_p.F69F	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	123	Ig-like V-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCACCTGCTTCGTGAGCATCC	0.682000														19			9		0	0	0.004482	0	0
FAM83H	286077	broad.mit.edu	37	8	144808844	144808844	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144808844G>A	uc003yzk.3	-	4	2856	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	929					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)			GCTCCGGCACGGGGGGCACCG	0.731000														5			6		0	0	0.001984	0	0
WDR69	164781	broad.mit.edu	37	2	228771902	228771902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228771902G>A	uc002vpn.1	+	9	986	c.907G>A	c.(907-909)Gat>Aat	p.D303N	WDR69_uc010zlw.1_Missense_Mutation_p.D288N|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	303										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AACAGGCCATGATGATGAAAT	0.358000														21			16		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179436373	179436373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179436373G>A	uc021vsy.1	-	274	67007	c.66782C>T	c.(66781-66783)tCc>tTc	p.S22261F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15956F|TTN_uc021vta.1_Missense_Mutation_p.S15889F|TTN_uc021vtb.1_Missense_Mutation_p.S15764F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23188	Fibronectin type-III 61.		I -> T.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S22260L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGCCCCAGGAAAGAGTAAT	0.428000														28			19		0	0	0.000743	0	0
MUC16	94025	broad.mit.edu	37	19	9046027	9046028	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9046027_9046028GG>AA	uc002mkp.3	-	4	35807_35808	c.35603_35604CC>TT	c.(35602-35604)tcc>tTT	p.S11868F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11870	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						GTAAACCAAGGGAAAGAGTTGA	0.505000														72			54		0	0	0.004672	0	0
HCN1	348980	broad.mit.edu	37	5	45262428	45262428	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:45262428C>T	uc003jok.3	-	7	2293	c.2268G>A	c.(2266-2268)caG>caA	p.Q756Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	756	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.Q756*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCCAGGTGTCTGTGGCTGCG	0.647000														23			16		0	0	0.004990	0	0
C17orf57	124989	broad.mit.edu	37	17	45456553	45456553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45456553G>A	uc002iln.3	+	13	1947	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	C17orf57_uc002ilm.3_Missense_Mutation_p.G410R|C17orf57_uc010daz.1_Missense_Mutation_p.G458R	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	506	EF-hand 1.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AACAGAGAATGGAATGGTGGA	0.303000														13			33		0	0	0.003271	0	0
MB21D1	115004	broad.mit.edu	37	6	74155359	74155359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74155359G>A	uc003pgx.1	-	1	908	c.769C>T	c.(769-771)Ccg>Tcg	p.P257S		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	257										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTTCTTTCGGATTTCTTTTA	0.313000														30			35		0	0	0.003271	0	0
SLC10A6	345274	broad.mit.edu	37	4	87749254	87749254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:87749254C>T	uc003hqd.2	-	3	801	c.653G>A	c.(652-654)gGa>gAa	p.G218E		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	218						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ATTCCAAGATCCTTTCGCCAG	0.473000														34			26		0	0	0.004656	0	0
OAS1	4938	broad.mit.edu	37	12	113344866	113344866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113344866C>T	uc001tuc.3	+	0	128	c.22C>T	c.(22-24)Cca>Tca	p.P8S	OAS1_uc010syn.2_Missense_Mutation_p.P7S|OAS1_uc010syo.2_Missense_Mutation_p.P7S|OAS1_uc001tub.3_Missense_Mutation_p.P8S|OAS1_uc001tud.3_Missense_Mutation_p.P8S|OAS1_uc009zwf.3_Missense_Mutation_p.P7S	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	8					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAGAAATACCCCAGCCAAATC	0.473000														44			38		0	0	0.002522	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626551	56626551	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56626551G>A	uc010sqj.2	+	4	623	c.366G>A	c.(364-366)gaG>gaA	p.E122E	SLC39A5_uc010sqi.2_Silent_p.E13E|SLC39A5_uc010sqk.2_Silent_p.E122E	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	122					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTGGAAGAGTCAAAGGCCC	0.617000														31			11		0	0	0.000673	0	0
CILP2	148113	broad.mit.edu	37	19	19655943	19655943	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19655943C>T	uc002nmw.4	+	7	2692	c.2607C>T	c.(2605-2607)ctC>ctT	p.L869L	CILP2_uc002nmv.4_Silent_p.L863L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	863						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCATCAACCTCGCCAAGCCCA	0.697000														24			15		0	0	0.004990	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262809	232262809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:232262809C>T	uc002vrs.3	+	1	559	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	127					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.P127P(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGAACCACCCGGAGAAGTG	0.642000														20			9		0	0	0.000673	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525594	176525594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176525594G>A	uc001gkz.3	+	1	1300	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	PAPPA2_uc001gky.1_Missense_Mutation_p.E46K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	46					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						GGTGCTGTTGGAAGGAGAACG	0.557000														61			26		0	0	0.004656	0	0
OR9G4	283189	broad.mit.edu	37	11	56510579	56510579	+	Missense_Mutation	SNP	G	A	A	rs142738268	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56510579G>A	uc010rjo.2	-	0	709	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L237F(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAGCCAGGAGGATGTTGACA	0.483000														53			28		0	0	0.005443	0	0
PCDH17	27253	broad.mit.edu	37	13	58299275	58299275	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:58299275G>A	uc001vhq.1	+	3	4219	c.3327G>A	c.(3325-3327)cgG>cgA	p.R1109R	PCDH17_uc010aec.1_Silent_p.R1108R|PCDH17_uc001vhr.1_Silent_p.R198R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109R(2)|p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCCAGCCGGGATTCCAGTG	0.522000														81			55		0	0	0.003610	0	0
PEMT	10400	broad.mit.edu	37	17	17480299	17480299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:17480299G>A	uc002grl.3	-	1	193	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PEMT_uc002grj.3_Missense_Mutation_p.P10S|PEMT_uc002grk.3_Missense_Mutation_p.P10S|PEMT_uc010vwx.2_Missense_Mutation_p.P47S	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	10					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGATCCAGGGGGTCCACGTAG	0.597000														5			33		0	0	0.001287	0	0
MED12	9968	broad.mit.edu	37	X	70344182	70344182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:70344182C>T	uc004dyy.3	+	12	2117	c.1918C>T	c.(1918-1920)Cct>Tct	p.P640S	MED12_uc011mpq.1_Missense_Mutation_p.P640S|MED12_uc004dyz.3_Missense_Mutation_p.P640S|MED12_uc004dza.3_Missense_Mutation_p.P487S|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	640					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.D639D(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTTTGATGATCCTGCCGATGA	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							2			3		0	0	0.004672	0	0
SMC1B	27127	broad.mit.edu	37	22	45749993	45749993	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:45749993C>T	uc003bgc.3	-	20	3190	c.3138G>A	c.(3136-3138)aaG>aaA	p.K1046K	SMC1B_uc003bgd.3_Silent_p.K1046K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1046					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCTGGCTTCCTTTCTGCTGG	0.368000														70			55		0	0	0.003610	0	0
ERBB4	2066	broad.mit.edu	37	2	212286772	212286772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:212286772G>A	uc002veg.1	-	23	3022	c.2924C>T	c.(2923-2925)tCa>tTa	p.S975L	ERBB4_uc002veh.1_Missense_Mutation_p.S975L|ERBB4_uc010zji.1_Missense_Mutation_p.S965L|ERBB4_uc010zjj.1_Missense_Mutation_p.S965L	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.	975	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGCCATCCTTGAAAACTCAGC	0.398000										TSP Lung(8;0.080)				39			30		0	0	0.003755	0	0
HEATR3	55027	broad.mit.edu	37	16	50100334	50100334	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50100334G>A	uc002efw.3	+	1	357	c.195G>A	c.(193-195)ctG>ctA	p.L65L	HEATR3_uc021thv.1_Intron|HEATR3_uc002efx.3_Intron	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	65							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGGCCCGGCTGGTGCAGCAGC	0.741000														7			9		0	0	0.000443	0	0
SORL1	6653	broad.mit.edu	37	11	121340715	121340715	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121340715G>A	uc001pxx.3	+	2	415	c.286_splice	c.e2-1	p.V96_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	96					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCTCTTTCAGGTTAGTCTGA	0.473000														41			30		0	0	0.001786	0	0
ZNF90	7643	broad.mit.edu	37	19	20216029	20216029	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:20216029G>A	uc002nor.2	+	3	270	c.131_splice	c.e3-1	p.G44_splice	ZNF90_uc021url.1_Splice_Site	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	44	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAATAAAACAGGTATTGTTGT	0.378000														27			8		0	0	0.004482	0	0
ENPP4	22875	broad.mit.edu	37	6	46107842	46107842	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46107842G>A	uc003oxy.3	+	1	781	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAAACAATTCGAACCCACCAG	0.388000														43			31		0	0	0.001512	0	0
FUT5	2527	broad.mit.edu	37	19	5867303	5867303	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5867303C>T	uc002mdo.4	-	1	605	c.434G>A	c.(433-435)tGg>tAg	p.W145*	FUT5_uc010duo.3_Nonsense_Mutation_p.W145*|FUT5_uc021uno.1_Nonsense_Mutation_p.W145*	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	145					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GAACCAGATCCAGCGCTGCCC	0.627000														26			16		0	0	0.004990	0	0
EXPH5	23086	broad.mit.edu	37	11	108384262	108384262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108384262G>A	uc001pkk.3	-	5	2083	c.1972C>T	c.(1972-1974)Cca>Tca	p.P658S	EXPH5_uc010rvz.2_Missense_Mutation_p.P502S|EXPH5_uc010rvy.2_Missense_Mutation_p.P470S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	658					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGCTTATTTGGAAAAATTTTC	0.448000														42			28		0	0	0.001512	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543970	9543971	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9543970_9543971GG>AA	uc003bry.3	-	3	954_955	c.668_669CC>TT	c.(667-669)tcc>tTT	p.S223F		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	223						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GCCGCAACACGGAGCTTACTGT	0.554000														10			9		0	0	0.004672	0	0
TTLL9	164395	broad.mit.edu	37	20	30497607	30497607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30497607G>A	uc010gdx.1	+	5	639	c.386G>A	c.(385-387)gGa>gAa	p.G129E	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	129	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGTGAGGCAGGAAAGCTGGAG	0.552000														30			10		0	0	0.000443	0	0
RELN	5649	broad.mit.edu	37	7	103275976	103275976	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:103275976G>A	uc022ajr.1	-	18	2521	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A	RELN_uc022ajq.1_Silent_p.A787A|RELN_uc010liz.3_Silent_p.A787A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	787					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R786K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTGATCAGGGGCTCTGCACG	0.408000														93			35		0	0	0.005524	0	0
ACTN2	88	broad.mit.edu	37	1	236898975	236898975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:236898975G>A	uc001hyf.2	+	7	942	c.738G>A	c.(736-738)atG>atA	p.M246I	ACTN2_uc001hyg.2_Missense_Mutation_p.M1I|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	246	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCCATCATGACGTACGTCT	0.522000														20			12		0	0	0.003163	0	0
IL22	50616	broad.mit.edu	37	12	68647154	68647154	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:68647154G>A	uc001sty.1	-	0	128	c.75C>T	c.(73-75)gcC>gcT	p.A25A	IL22_uc010stb.1_Silent_p.A25A	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	25					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GTACCAAGAGGGCCAAGAGAA	0.567000														23			19		0	0	0.001216	0	0
TRANK1	9881	broad.mit.edu	37	3	36897005	36897005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36897005G>A	uc003cgj.3	-	11	4324	c.4076C>T	c.(4075-4077)tCc>tTc	p.S1359F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1359					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCTGGGACCTGATTTG	0.473000														74			49		0	0	0.003610	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629158	1629158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1629158G>A	uc001ltw.1	-	0	536	c.458C>T	c.(457-459)cCc>cTc	p.P153L	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	153	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCAGCTGGGCTTGCAGCA	0.632000														73			44		0	0	0.002522	0	0
C1orf112	55732	broad.mit.edu	37	1	169772407	169772408	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169772407_169772408CC>TT	uc001ggq.3	+	4	969_970	c.269_270CC>TT	c.(268-270)tcc>tTT	p.S90F	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggo.3_Missense_Mutation_p.S90F|C1orf112_uc001ggp.3_Missense_Mutation_p.S90F|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Missense_Mutation_p.S61F|C1orf112_uc009wvu.1_Missense_Mutation_p.S61F|C1orf112_uc001ggr.3_5'UTR|C1orf112_uc010plv.2_Missense_Mutation_p.S32F	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	90										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTCTCCCCTCCTCAGTCCTTC	0.401000														31			17		0	0	0.004672	0	0
USP26	83844	broad.mit.edu	37	X	132162061	132162061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:132162061G>A	uc011mvf.2	-	0	240	c.188C>T	c.(187-189)tCc>tTc	p.S63F	USP26_uc010nrm.1_Missense_Mutation_p.S63F	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	63					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)					TCCTCTATAGGATTTAAGGAC	0.323000														8			25		0	0	0.001271	0	0
MLL2	8085	broad.mit.edu	37	12	49444331	49444331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49444331G>A	uc001rta.4	-	10	3040	c.3040C>T	c.(3040-3042)Ccc>Tcc	p.P1014S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1014	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATCAGGATGGGAGAAGCCGGC	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				12			21		0	0	0.003954	0	0
RASSF9	9182	broad.mit.edu	37	12	86199212	86199212	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:86199212G>A	uc001taf.1	-	1	915	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	192					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGGTCCTGGGAAATGATCA	0.383000														85			62		0	0	0.003610	0	0
FGFR4	2264	broad.mit.edu	37	5	176518729	176518729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176518729C>T	uc003mfl.3	+	5	814	c.647C>T	c.(646-648)cCc>cTc	p.P216L	FGFR4_uc003mfm.3_Missense_Mutation_p.P216L|FGFR4_uc011dfu.2_Missense_Mutation_p.P216L|FGFR4_uc011dfw.1_Missense_Mutation_p.P216L|FGFR4_uc003mfo.3_Missense_Mutation_p.P216L	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	216	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGCGTGGTGCCCTCGGACCGC	0.637000										TSP Lung(9;0.080)				3			10		0	0	0.000673	0	0
ADCY1	107	broad.mit.edu	37	7	45699727	45699727	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45699727T>A	uc003tne.4	+	6	1412	c.1394T>A	c.(1393-1395)tTc>tAc	p.F465Y	ADCY1_uc003tnd.3_Missense_Mutation_p.F240Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	465					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)	AGGAACAGTTTCTTGAAAACT	0.473000														33			24		0	0	0.002780	0	0
PDGFRA	5156	broad.mit.edu	37	4	55154975	55154975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:55154975C>T	uc003han.4	+	19	3015	c.2684C>T	c.(2683-2685)cCt>cTt	p.P895L	PDGFRA_uc003haa.3_Missense_Mutation_p.P655L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	895	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGTGGCACCCCTTACCCCGGC	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				32			17		0	0	0.000743	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999814	46999814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:46999814G>A	uc001jec.3	+	2	1069	c.934G>A	c.(934-936)Gat>Aat	p.D312N	GPRIN2_uc021ppt.1_Missense_Mutation_p.D312N	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	312										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TAGGACCAAAGATGTGTGGAC	0.642000														67			7		0	0	0.003080	0	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168233482G>A	uc010jjg.3	-	8	1324	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_uc003mab.3_Missense_Mutation_p.P302S|SLIT3_uc010jji.2_Missense_Mutation_p.P302S|SLIT3_uc003mac.1_Missense_Mutation_p.P99S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	302	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577000														8			22		0	0	0.003330	0	0
TPO	7173	broad.mit.edu	37	2	1544401	1544401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1544401C>T	uc002qwr.3	+	15	2740	c.2654C>T	c.(2653-2655)tCg>tTg	p.S885L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.S885L|TPO_uc002qwx.3_Missense_Mutation_p.S828L|TPO_uc002qwu.3_Missense_Mutation_p.S828L|TPO_uc010yio.2_Missense_Mutation_p.S712L|TPO_uc010yip.2_Missense_Mutation_p.S841L|TPO_uc002qwy.1_Missense_Mutation_p.S181L|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	885					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCCCATCTCGGAGACAGGC	0.642000														25			19		0	0	0.001216	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325066	162325066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162325066G>A	uc001gbv.2	+	6	1072	c.685G>A	c.(685-687)Gat>Aat	p.D229N	NOS1AP_uc010pkr.1_Missense_Mutation_p.D224N|NOS1AP_uc001gbw.2_Missense_Mutation_p.D224N|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	229					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCAGGGAATGATGTCCTGGA	0.592000														50			54		0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123844357	123844357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123844357C>T	uc001lfv.3	+	3	2702	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P781L|TACC2_uc010qtv.2_Missense_Mutation_p.P781L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	781						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGCCACATCCCCCCCAGGGG	0.637000														41			27		0	0	0.004656	0	0
OR52H1	390067	broad.mit.edu	37	11	5566283	5566283	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5566283G>A	uc010qzh.2	-	0	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTCGAAAGGAGATGCCCA	0.473000														17			20		0	0	0.001216	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682509	7682509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7682509G>A	uc002mgu.4	+	17	3588	c.3487G>A	c.(3487-3489)Ggc>Agc	p.G1163S	CAMSAP3_uc002mgv.4_Missense_Mutation_p.G1136S|CAMSAP3_uc002mgw.3_Missense_Mutation_p.G266S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1136	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGCCTGGCGGGCAAGGTGAA	0.607000														16			12		0	0	0.000978	0	0
DCX	1641	broad.mit.edu	37	X	110574170	110574170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110574170C>T	uc004epd.3	-	4	1323	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	DCX_uc011msv.2_Missense_Mutation_p.R384Q|DCX_uc004epe.3_Missense_Mutation_p.R303Q|DCX_uc004epf.3_Missense_Mutation_p.R303Q|DCX_uc004epg.3_Missense_Mutation_p.R303Q	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	384	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGACTTGCTTCGGCGCATAGG	0.527000														8			43		0	0	0.002222	0	0
B4GALT6	9331	broad.mit.edu	37	18	29237967	29237967	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29237967G>A	uc002kwz.4	-	2	615	c.318C>T	c.(316-318)ctC>ctT	p.L106L	B4GALT6_uc010dma.3_Silent_p.L67L|B4GALT6_uc010dmb.3_Silent_p.L106L	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	106					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTGGACAGGGGAGGTATGGTG	0.373000														56			31		0	0	0.005524	0	0
RPA4	29935	broad.mit.edu	37	X	96140057	96140057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:96140057C>T	uc004efv.4	+	0	1151	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	250					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CCACATCTATCCCACTGTGGA	0.498000								Other identified genes with known or suspected DNA repair function						4			36		0	0	0.001706	0	0
BLM	641	broad.mit.edu	37	15	91308573	91308574	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:91308573_91308574GG>TT	uc002bpr.3	+	8	2219_2220	c.2122_2123GG>TT	c.(2122-2124)ggg>TTg	p.G708L	BLM_uc010uqh.2_Missense_Mutation_p.G708L|BLM_uc010uqi.2_Missense_Mutation_p.G333L|BLM_uc010bnx.3_Missense_Mutation_p.G708L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	708	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGTCACTGTT	0.401000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					448			11		0	0	0.004672	0	0
KLHL12	59349	broad.mit.edu	37	1	202862512	202862512	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:202862512C>A	uc001gyo.1	-	10	1635	c.1435G>T	c.(1435-1437)Ggg>Tgg	p.G479W	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Missense_Mutation_p.G517W|KLHL12_uc009xah.1_Missense_Mutation_p.G378W	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	479	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCAAATCCCCCCACCACATAA	0.453000														138			7		0.00307968	0.00640016	0.003080	1	0
GLRB	2743	broad.mit.edu	37	4	158057739	158057739	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:158057739G>A	uc003ipj.2	+	4	618	c.416G>A	c.(415-417)tGg>tAg	p.W139*	GLRB_uc021xtp.1_Nonsense_Mutation_p.W139*|GLRB_uc021xtq.1_Nonsense_Mutation_p.W139*	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	139					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGTGTTTATGGAAACCTGAT	0.403000														55			31		0	0	0.001786	0	0
DCST2	127579	broad.mit.edu	37	1	155005627	155005627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155005627C>T	uc001fgm.3	-	1	462	c.382G>A	c.(382-384)Gag>Aag	p.E128K	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	128						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGGCCAGCTCTGCCCCACAG	0.612000														6			5		0	0	0.000602	0	0
PCDH18	54510	broad.mit.edu	37	4	138452418	138452418	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138452418C>T	uc003ihe.4	-	0	1212	c.825G>A	c.(823-825)gaG>gaA	p.E275E	PCDH18_uc003ihf.4_Silent_p.E268E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.E55E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	275	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATTAGCGCCCTCATCTGGAT	0.403000														28			36		0	0	0.003755	0	0
PTCHD2	57540	broad.mit.edu	37	1	11586830	11586830	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11586830C>T	uc001ash.4	+	12	2874	c.2736C>T	c.(2734-2736)gcC>gcT	p.A912A	PTCHD2_uc001asi.1_Silent_p.A912A	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	912					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGTGATGCCAAGCGGGGCT	0.607000														34			18		0	0	0.001216	0	0
FBN3	84467	broad.mit.edu	37	19	8212199	8212199	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8212199C>T	uc002mjf.3	-	1	184	c.167_splice	c.e1+1	p.G56_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	56						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCACGCACCCCTGCAAGATG	0.692000														8			5		0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21974679G>A	uc003zpk.3	-	0	454	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.3_Nonsense_Mutation_p.Q50*|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.	50			Q -> R (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(2)|p.V28_V51del(2)|p.0(1)|p.I49S(1)|p.Q50R(1)|p.I49T(1)|p.I49I(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)		CTACCCACCTGGATCGGCCTC	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				57			86		0	0	0.003610	0	0
ETS2	2114	broad.mit.edu	37	21	40184979	40184979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:40184979C>T	uc002yxf.3	+	3	585	c.545C>T	c.(544-546)tCt>tTt	p.S182F	ETS2_uc002yxg.3_Missense_Mutation_p.S42F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	42					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GTTTTTCCTTCTCTAAATGAA	0.398000														88			54		0	0	0.003610	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414147	22414147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:22414147C>T	uc001yuf.3	+	0	686	c.446C>T	c.(445-447)tCt>tTt	p.S149F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CGAGCGTCTTCTTCTGAGGCA	0.473000														88			14		0	0	0.002450	0	0
FAM193B	54540	broad.mit.edu	37	5	176963465	176963465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176963465G>A	uc003mhu.3	-	3	1059	c.970C>T	c.(970-972)Cca>Tca	p.P324S	FAM193B_uc003mht.3_5'UTR|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	279										kidney(1)|large_intestine(3)	4						GAGAATGGTGGGGGCATCTTC	0.662000														0			3		0	0	0.004672	0	0
GPR158	57512	broad.mit.edu	37	10	25887227	25887227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:25887227C>T	uc001isj.3	+	10	2732	c.2672C>T	c.(2671-2673)aCt>aTt	p.T891I	GPR158_uc001isk.3_Missense_Mutation_p.T266I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	891						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						GAGAAGAAAACTGGGCACCCA	0.507000														62			35		0	0	0.003271	0	0
PKP4	8502	broad.mit.edu	37	2	159459601	159459601	+	Missense_Mutation	SNP	C	T	T	rs141436976	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:159459601C>T	uc002tzv.3	+	3	525	c.265C>T	c.(265-267)Cct>Tct	p.P89S	PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.3_Missense_Mutation_p.P89S|PKP4_uc002tzw.3_Missense_Mutation_p.P89S|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.P89S|PKP4_uc002uaa.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	89					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GAAGTCATTTCCTTGGAGATC	0.274000										HNSCC(62;0.18)				75			40		0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					13			67		0	0	0.004672	0	0
CTDP1	9150	broad.mit.edu	37	18	77474635	77474635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77474635C>T	uc002lnh.2	+	7	1322	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	CTDP1_uc002lni.2_Missense_Mutation_p.P392L|CTDP1_uc010drd.2_Missense_Mutation_p.P392L|CTDP1_uc021ult.1_Missense_Mutation_p.P273L	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	392					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCGCCACCCCGCGGGACTCA	0.716000														8			6		0	0	0.003080	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479219	14479219	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14479219G>A	uc010xai.2	-	2		c.345C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		AACTTCTGGTGAAATCCGCGA	0.567000														11			4		0	0	0.000248	0	0
OR10J1	26476	broad.mit.edu	37	1	159410223	159410223	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159410223C>T	uc010piv.2	+	0	712	c.675C>T	c.(673-675)ttC>ttT	p.F225F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	225					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.V224I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTCTGGTTTTCATTTCTTATG	0.463000														76			51		0	0	0.003610	0	0
MUC5B	727897	broad.mit.edu	37	11	1271063	1271063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1271063C>T	uc001lta.3	+	30	13012	c.12953C>T	c.(12952-12954)tCc>tTc	p.S4318F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4318	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAAATCCACAGCTACC	0.612000														47			32		0	0	0.001485	0	0
SHISA3	152573	broad.mit.edu	37	4	42403085	42403085	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:42403085C>T	uc003gwp.3	+	1	552	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	112					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GTTCATCATCCTGGGCTCTGT	0.502000														87			49		0	0	0.003610	0	0
ZNF230	7773	broad.mit.edu	37	19	44514558	44514558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44514558C>T	uc002oyb.1	+	4	618	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	123	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGGTGATGTCCCCTCCCAGGT	0.438000														30			30		0	0	0.002445	0	0
NLRP1	22861	broad.mit.edu	37	17	5461949	5461949	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:5461949G>A	uc002gci.3	-	3	2622	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	NLRP1_uc002gcg.1_Silent_p.I689I|NLRP1_uc002gch.4_Silent_p.I689I|NLRP1_uc002gck.3_Silent_p.I689I|NLRP1_uc002gcj.3_Silent_p.I689I|NLRP1_uc002gcl.3_Silent_p.I689I|NLRP1_uc010clh.3_Silent_p.I689I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	689					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCAGTGAAAGATGTTCTCCA	0.557000														11			53		0	0	0.003610	0	0
PCDH8	5100	broad.mit.edu	37	13	53419641	53419641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:53419641C>T	uc001vhi.3	-	1	2962	c.2758G>A	c.(2758-2760)Ggg>Agg	p.G920R	PCDH8_uc001vhj.3_Missense_Mutation_p.G823R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	920					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCACTGTCCCCTTTACCGCTG	0.542000														34			22		0	0	0.001061	0	0
OR56A5	390084	broad.mit.edu	37	11	5989352	5989352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5989352G>A	uc010qzu.2	-	0	373	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	125						integral to membrane|plasma membrane	olfactory receptor activity										GCCACATAGCGGTCATAGGCC	0.493000														7			4		0	0	0.000248	0	0
USP43	124739	broad.mit.edu	37	17	9631820	9631820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:9631820G>A	uc010cod.3	+	14	2885	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	USP43_uc002gma.4_Missense_Mutation_p.G651E|USP43_uc010vva.2_Missense_Mutation_p.G957E|USP43_uc010coe.3_Missense_Mutation_p.G759E|USP43_uc002gmc.4_Missense_Mutation_p.G474E	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	962					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.M962T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCCAGATGGGAAGCAAAAGC	0.567000														2			11		0	0	0.000673	0	0
PCDH15	65217	broad.mit.edu	37	10	55582378	55582378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55582378G>A	uc010qhy.1	-	34	5524	c.5129C>T	c.(5128-5130)tCa>tTa	p.S1710L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1705L|PCDH15_uc021pqz.1_Missense_Mutation_p.S1680L|PCDH15_uc010qhv.1_Missense_Mutation_p.S1700L|PCDH15_uc010qhw.1_Missense_Mutation_p.S1663L|PCDH15_uc010qhx.1_Missense_Mutation_p.S1634L|PCDH15_uc010qhz.1_Missense_Mutation_p.S1705L|PCDH15_uc010qia.1_Missense_Mutation_p.S1683L|PCDH15_uc001jju.1_Missense_Mutation_p.S1703L|PCDH15_uc010qib.1_Missense_Mutation_p.S1680L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1703					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)				ACAAGGCCTTGAAGGAGAAAG	0.383000										HNSCC(58;0.16)				39			20		0	0	0.001523	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465953	160465953	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160465953G>A	uc001fwe.2	-	1	350	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Silent_p.L94L|SLAMF6_uc010pjh.2_Silent_p.L45L|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Silent_p.L45L	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	94						integral to membrane|plasma membrane	receptor activity	p.S93F(1)		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)			CTGAGTTGCAGGGAGTAGGAC	0.473000														63			68		0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57422537	57422537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57422537G>A	uc001cyp.3	-	2	363	c.296C>T	c.(295-297)cCg>cTg	p.P99L	C8B_uc010oon.2_Missense_Mutation_p.P37L|C8B_uc010ooo.2_Missense_Mutation_p.P47L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	99	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAAGTTGCACGGTTCCCCATG	0.512000														54			50		0	0	0.003610	0	0
HTR7	3363	broad.mit.edu	37	10	92509277	92509277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:92509277G>A	uc001kha.3	-	1	857	c.614C>T	c.(613-615)tCc>tTc	p.S205F	HTR7_uc001kgz.3_Missense_Mutation_p.S205F|HTR7_uc001khb.3_Missense_Mutation_p.S205F	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	205					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AAGCCAGACGGAGAGAATCAT	0.502000														53			39		0	0	0.001287	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:183824092G>A	uc010hxr.3	+	5	1374	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	HTR3E_uc010hxq.3_Missense_Mutation_p.E368K|HTR3E_uc003fml.4_Missense_Mutation_p.E353K|HTR3E_uc003fmm.3_Missense_Mutation_p.E383K|HTR3E_uc003fmn.3_Missense_Mutation_p.E368K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000														8			5		0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110523033	110523033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110523033G>A	uc003yne.3	+	70	11527	c.11423G>A	c.(11422-11424)gGa>gAa	p.G3808E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3808					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)			TGGTGTGCTGGATATACATGC	0.403000										HNSCC(38;0.096)				98			156		0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202710800	202710800	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:202710800G>A	uc009xag.3	-	19	2864	c.2748C>T	c.(2746-2748)ctC>ctT	p.L916L	KDM5B_uc001gyf.3_Silent_p.L880L|KDM5B_uc001gyg.1_Silent_p.L722L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	880					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCCTCAGAGAGTAGTTTCT	0.398000														33			34		0	0	0.003755	0	0
KIF11	3832	broad.mit.edu	37	10	94373212	94373212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:94373212C>T	uc001kic.3	+	7	1176	c.868C>T	c.(868-870)Caa>Taa	p.Q290*		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	290	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAATATAAATCAATCCCTGTT	0.388000														229			146		0	0	0.003610	0	0
CASK	8573	broad.mit.edu	37	X	41437616	41437616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:41437616G>A	uc004dfk.4	-	9	1051	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	CASK_uc004dfj.4_Nonsense_Mutation_p.Q57*|CASK_uc004dfl.4_Nonsense_Mutation_p.Q494*|CASK_uc004dfm.4_Nonsense_Mutation_p.Q494*|CASK_uc004dfn.4_Nonsense_Mutation_p.Q488*	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	494	Calmodulin-binding.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTGTTCTTTTGAAACTGTACC	0.423000														2			18		0	0	0.001523	0	0
VWF	7450	broad.mit.edu	37	12	6232351	6232351	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:6232351G>A	uc001qnn.1	-	1	262	c.12C>T	c.(10-12)gcC>gcT	p.A4A	VWF_uc010set.1_Silent_p.A4A|VWF_uc001qno.1_5'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	4					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGCAAATCTGGCAGGAATCA	0.557000														38			28		0	0	0.002445	0	0
PTPN22	26191	broad.mit.edu	37	1	114394690	114394690	+	Missense_Mutation	SNP	G	A	A	rs143665827		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:114394690G>A	uc001eds.3	-	9	917	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PTPN22_uc021orx.1_Missense_Mutation_p.R263W|PTPN22_uc009wgq.3_Intron|PTPN22_uc021ory.1_Missense_Mutation_p.R239W|PTPN22_uc010owo.2_Missense_Mutation_p.R19W|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R263W|PTPN22_uc009wgs.2_Missense_Mutation_p.R136W|PTPN22_uc001edu.2_Missense_Mutation_p.R263W	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	263	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity	p.I262I(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCATTTCCCGGATCAAACTG	0.348000														27			13		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179417239	179417239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179417239C>T	uc021vsy.1	-	283	82909	c.82684G>A	c.(82684-82686)Gaa>Aaa	p.E27562K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E21257K|TTN_uc021vta.1_Missense_Mutation_p.E21190K|TTN_uc021vtb.1_Missense_Mutation_p.E21065K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28489	Fibronectin type-III 100.						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)			AGGTCAACTTCAGGTGTAATA	0.433000														20			16		0	0	0.004990	0	0
TECTA	7007	broad.mit.edu	37	11	121037448	121037448	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121037448C>T	uc010rzo.2	+	16	5545	c.5545C>T	c.(5545-5547)Cag>Tag	p.Q1849*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1849	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TATCTCCTTTCAGATCAACAA	0.507000														39			37		0	0	0.001485	0	0
CACNA1E	777	broad.mit.edu	37	1	181754866	181754866	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181754866C>T	uc009wxt.3	+	42	5892	c.5697C>T	c.(5695-5697)ttC>ttT	p.F1899F	CACNA1E_uc001gow.3_Silent_p.F1899F|CACNA1E_uc009wxs.3_Silent_p.F1880F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1899					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						CCCCCATGTTCCAGCGCATGG	0.478000														149			69		0	0	0.003610	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524668	103524668	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:103524668C>T	uc001vpu.2	+	20	4283	c.4161C>T	c.(4159-4161)gcC>gcT	p.A1387A	BIVM-ERCC5_uc001vpw.3_Silent_p.A933A|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.A765A	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1358					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CAGCTGTTGCCGAGGCCTACC	0.433000														8			18		0	0	0.001216	0	0
CD86	942	broad.mit.edu	37	3	121825157	121825157	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121825157T>A	uc003eet.3	+	3	641	c.513T>A	c.(511-513)gtT>gtA	p.V171V	CD86_uc011bjo.2_Silent_p.V89V|CD86_uc011bjp.2_Silent_p.V59V|CD86_uc003eeu.3_Silent_p.V165V|CD86_uc021xcz.1_Silent_p.V165V	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	171	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGATGAGTGTTTTGCTAAGAA	0.363000														31			23		0	0	0.002780	0	0
PROM2	150696	broad.mit.edu	37	2	95944836	95944836	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:95944836G>A	uc002suk.3	+	9	1351	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	PROM2_uc002suh.2_Silent_p.E406E|PROM2_uc002sui.3_Silent_p.E406E|PROM2_uc002suj.3_Silent_p.E60E|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_5'Flank	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	406						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CACTGCAGGAGGTGGAGGAGA	0.677000														9			7		0	0	0.003080	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791507	76791507	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:76791507G>A	uc001sye.1	-	7	1119	c.639C>T	c.(637-639)ttC>ttT	p.F213F	OSBPL8_uc001syf.1_Silent_p.F171F|OSBPL8_uc001syg.1_Silent_p.F171F|OSBPL8_uc001syh.1_Silent_p.F188F	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	213	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCAAAGGATGGAAAAGTTTGA	0.378000														21			12		0	0	0.001368	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703007	27703007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:27703007C>T	uc001itu.2	-	0	291	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	58					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGCCAGGGGTCCTGAGGGTTC	0.701000														25			27		0	0	0.001786	0	0
DISP1	84976	broad.mit.edu	37	1	223175748	223175748	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223175748G>T	uc001hnu.2	+	9	1335	c.1009G>T	c.(1009-1011)Ggt>Tgt	p.G337C		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	337					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCCCAGTTTGGTGATCTCTG	0.478000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		416			9		6.40141e-05	0.000133759	0.000978	1	0
GOT1L1	137362	broad.mit.edu	37	8	37794896	37794896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:37794896C>T	uc011lbj.1	-	3	518	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	140					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AAGACGAGTCCATGCAGTTCT	0.537000														1			5		0	0	0.001168	0	0
ATP13A3	79572	broad.mit.edu	37	3	194174455	194174455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:194174455G>A	uc003fty.4	-	8	1220	c.818C>T	c.(817-819)tCa>tTa	p.S273L	ATP13A3_uc003ftz.1_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	273					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTACAAACTGAAACTCTTAC	0.348000														27			23		0	0	0.003330	0	0
OR2T27	403239	broad.mit.edu	37	1	248814048	248814048	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248814048G>A	uc010pzo.2	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGATGAGAATGATCTTGACCA	0.532000														27			7		0	0	0.000673	0	0
TRIM2	23321	broad.mit.edu	37	4	154216662	154216662	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154216662C>T	uc003inh.2	+	5	1069	c.984C>T	c.(982-984)ttC>ttT	p.F328F	TRIM2_uc003ing.2_Silent_p.F301F	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	301						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGCTGGATTTCATCGTGGAAA	0.607000														20			11		0	0	0.001855	0	0
ULK4	54986	broad.mit.edu	37	3	41795885	41795885	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:41795885G>A	uc003ckv.4	-	21	2490	c.2289C>T	c.(2287-2289)aaC>aaT	p.N763N		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	763							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACATCTCACGGTTATAAATCA	0.393000														81			53		0	0	0.003610	0	0
KIF26B	55083	broad.mit.edu	37	1	245847663	245847663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:245847663C>T	uc001ibf.1	+	10	2827	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	KIF26B_uc001ibg.1_Missense_Mutation_p.S414L|KIF26B_uc001ibh.1_Missense_Mutation_p.S38L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	796					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGATTGCATCGAGAGTCTTG	0.597000														14			11		0	0	0.000673	0	0
SLIT2	9353	broad.mit.edu	37	4	20620554	20620554	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:20620554C>T	uc003gpr.1	+	36	4716	c.4512C>T	c.(4510-4512)ttC>ttT	p.F1504F	SLIT2_uc003gps.1_Silent_p.F1496F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1504	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.F1504F(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATACTCTTTCGAATGCACTG	0.567000														18			16		0	0	0.004007	0	0
MORC1	27136	broad.mit.edu	37	3	108818267	108818267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108818267C>T	uc003dxl.3	-	5	448	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	MORC1_uc011bhn.2_Missense_Mutation_p.E121K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	121					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCGTTTCTTCCTTCTTCGTA	0.343000														39			22		0	0	0.004656	0	0
COL9A3	1299	broad.mit.edu	37	20	61463533	61463533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61463533G>A	uc002ydm.3	+	24	1318	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	439	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.G439R(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGCCCTAAGGGAGACCAGGT	0.627000														7			10		0	0	0.003163	0	0
DTWD2	285605	broad.mit.edu	37	5	118274914	118274914	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:118274914G>A	uc003ksa.3	-	2	415	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	127										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AGCGACGACCGATCTTCACTT	0.358000														4			12		0	0	0.003163	0	0
HACE1	57531	broad.mit.edu	37	6	105192055	105192055	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:105192055G>A	uc003pqu.1	-	21	2770	c.2493C>T	c.(2491-2493)ctC>ctT	p.L831L	HACE1_uc010kcy.1_Silent_p.L313L|HACE1_uc010kcz.1_Silent_p.L616L|HACE1_uc010kcx.1_Silent_p.L240L|HACE1_uc003pqt.1_Silent_p.L484L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	831	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CAAACTGTAAGAGAAGAACTC	0.328000														66			35		0	0	0.003271	0	0
C18orf26	284254	broad.mit.edu	37	18	52265242	52265242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52265242C>T	uc002lfq.1	+	2	545	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	167						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AACACCCTCTCCTGCTTGTCC	0.473000														24			15		0	0	0.003163	0	0
SCN7A	6332	broad.mit.edu	37	2	167279822	167279822	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167279822A>T	uc002udu.2	-	17	3104	c.2974T>A	c.(2974-2976)Ttt>Att	p.F992I	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.	992					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						TAGGCCTTAAAACCATATGCC	0.318000														52			39		0	0	0.002222	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41000375C>T	uc003jmj.4	-	38	4919	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D1032N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1477							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						AGATCCTGATCAAGGAGACGG	0.502000														34			24		0	0	0.003330	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353842	77353842	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77353842G>A	uc002ffc.4	-	15	2855	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	ADAMTS18_uc010chc.1_Silent_p.F400F|ADAMTS18_uc002ffe.1_Silent_p.F508F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	812	Spacer.				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						CAGCGAAGGGGAACTCCCCAG	0.572000														26			13		0	0	0.001368	0	0
NDRG2	57447	broad.mit.edu	37	14	21486622	21486622	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21486622G>A	uc001vyy.3	-	13	1005	c.855C>T	c.(853-855)ttC>ttT	p.F285F	NDRG2_uc010tll.2_Silent_p.F281F|NDRG2_uc001vyt.3_Silent_p.F198F|NDRG2_uc001vyu.3_Silent_p.F242F|NDRG2_uc001vyv.3_Silent_p.F271F|NDRG2_uc001vyw.3_Silent_p.F271F|NDRG2_uc001vzb.3_Silent_p.F225F|NDRG2_uc001vyx.3_Silent_p.F285F|NDRG2_uc001vza.3_Silent_p.F271F|NDRG2_uc001vyz.3_Silent_p.F271F|NDRG2_uc001vzc.3_Intron|NDRG2_uc010aig.3_Silent_p.F274F|NDRG2_uc001vze.3_Silent_p.F285F|NDRG2_uc001vzd.3_Silent_p.F285F|NDRG2_uc001vzg.3_Silent_p.F271F|NDRG2_uc001vzf.3_Silent_p.F271F	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	285					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGACCTTGAGGAACGAGGTCT	0.577000														33			19		0	0	0.001882	0	0
MYOCD	93649	broad.mit.edu	37	17	12649381	12649381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:12649381G>A	uc002gno.2	+	8	1416	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MYOCD_uc002gnn.2_Missense_Mutation_p.D373N|MYOCD_uc002gnp.1_Missense_Mutation_p.D277N|MYOCD_uc002gnq.2_Missense_Mutation_p.D92N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	373	SAP.				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)		TAACCTGGATGATCTGAAGGT	0.413000														10			50		0	0	0.003610	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795577	69795577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69795577G>A	uc003hef.2	-	5	1569	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	513						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTTTGACAGGAAAATAAAAA	0.383000														35			24		0	0	0.002299	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810341	167810341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:167810341C>T	uc011cjq.1	-	4	622	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E180K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E60K|SPOCK3_uc003iri.1_Missense_Mutation_p.E180K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E129K|SPOCK3_uc003irj.1_Missense_Mutation_p.E177K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E88K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E177K|SPOCK3_uc011cju.1_Missense_Mutation_p.E84K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E82K|SPOCK3_uc003irk.4_Missense_Mutation_p.E177K|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	180					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)		CAATGTCCTTCACATTTGACT	0.323000														58			48		0	0	0.003610	0	0
HHIP	64399	broad.mit.edu	37	4	145627723	145627723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145627723C>T	uc003ijs.2	+	4	1552	c.872C>T	c.(871-873)cCc>cTc	p.P291L		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	291						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)		GCATTCCATCCCAATTACAAG	0.408000														11			8		0	0	0.003080	0	0
FXYD6-FXYD2	100533181	broad.mit.edu	37	11	117711058	117711058	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117711058C>A	uc021qqz.1	-	4	643	c.198G>T	c.(196-198)agG>agT	p.R66S	FXYD6-FXYD2_uc021qqy.1_Intron|FXYD6-FXYD2_uc001prp.2_Missense_Mutation_p.V79L|FXYD6-FXYD2_uc001prr.2_Missense_Mutation_p.V79L|FXYD6-FXYD2_uc001prq.2_Missense_Mutation_p.V79L|FXYD6-FXYD2_uc001pro.2_Missense_Mutation_p.V79L|FXYD6-FXYD2_uc021qra.1_Missense_Mutation_p.V79L|FXYD6-FXYD2_uc021qrb.1_5'Flank	NM_001243598	NP_001230527			Homo sapiens FXYD6-FXYD2 readthrough (FXYD6-FXYD2), transcript variant 2, mRNA.																		AGGTTCTCCACCTGGGCTTCC	0.587000														38			15		4.96729e-08	1.03982e-07	0.001216	1	0
TRIM45	80263	broad.mit.edu	37	1	117663645	117663645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:117663645G>A	uc001egz.2	-	0	767	c.179C>T	c.(178-180)tCa>tTa	p.S60L	TRIM45_uc009whe.2_Missense_Mutation_p.S60L	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	60						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTCCACTACTGAGAAGGGCTC	0.557000														35			30		0	0	0.002096	0	0
EPHA6	285220	broad.mit.edu	37	3	96945212	96945212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:96945212G>A	uc010how.1	+	3	1262	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	EPHA6_uc003drp.1_Missense_Mutation_p.E407K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	312	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E313K(2)|p.E407K(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						CTGTCAGTGTGAAAAGGGTTA	0.398000														104			63		0	0	0.003610	0	0
BRD9	65980	broad.mit.edu	37	5	865593	865593	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:865593G>A	uc003jbq.3	-	14	1796	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	BRD9_uc003jbl.3_Silent_p.G427G|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Silent_p.G490G|BRD9_uc003jbo.3_Silent_p.G447G	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	543							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACGGCCGAGAGCCGCCGCGCT	0.647000														53			37		0	0	0.001287	0	0
LAMA3	3909	broad.mit.edu	37	18	21390462	21390462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:21390462G>A	uc002kuq.3	+	12	1822	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	LAMA3_uc002kur.3_Missense_Mutation_p.C579Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	579	Domain V.|Laminin EGF-like 5.				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)	TTCCCCCACTGCCAAGGTAGG	0.557000														28			15		0	0	0.004990	0	0
ACSM4	341392	broad.mit.edu	37	12	7463328	7463328	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7463328C>T	uc001qsx.1	+	2	606	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	202					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GGCTCAGCTTCCAGGAGTTAT	0.478000														12			10		0	0	0.000978	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307853	46307853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46307853G>A	uc002pdm.3	-	2	1481	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	RSPH6A_uc002pdl.3_Missense_Mutation_p.P173L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	437						intracellular		p.P437S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCGCGTCCATGGCAGGCCCGG	0.612000														56			27		0	0	0.001271	0	0
ZFP42	132625	broad.mit.edu	37	4	188924676	188924676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:188924676C>T	uc003izh.1	+	3	1123	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	ZFP42_uc003izi.1_Missense_Mutation_p.H239Y|ZFP42_uc021xvm.1_Missense_Mutation_p.H239Y	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	239					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TTTCCTGGTTCATACTGGAGA	0.517000														25			29		0	0	0.001512	0	0
CDH12	1010	broad.mit.edu	37	5	21817074	21817074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21817074C>T	uc010iuc.2	-	5	1440	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CDH12_uc011cno.1_Missense_Mutation_p.G288R|CDH12_uc003jgk.2_Missense_Mutation_p.G328R	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGATGACTCCCTCTTGTGTA	0.318000										HNSCC(59;0.17)				99			51		0	0	0.003610	0	0
WDR67	93594	broad.mit.edu	37	8	124140536	124140536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124140536C>T	uc003ypp.2	+	13	1990	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	WDR67_uc011lig.2_Missense_Mutation_p.R634W|WDR67_uc011lih.2_Missense_Mutation_p.R524W|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Missense_Mutation_p.R91W	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	634						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCACCATCGGAATAACCT	0.328000														69			19		0	0	0.001882	0	0
TAOK2	9344	broad.mit.edu	37	16	30002405	30002405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30002405C>T	uc002dvc.2	+	18	3483	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	770	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACAGGACGCTCCGAGCGAATC	0.662000														27			22		0	0	0.002780	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110474030	110474030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110474030G>A	uc003yne.3	+	47	7380	c.7276G>A	c.(7276-7278)Gga>Aga	p.G2426R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2426					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)			CTGTCTCCAAGGAAAGTTTGG	0.368000										HNSCC(38;0.096)				19			12		0	0	0.001368	0	0
ANK3	288	broad.mit.edu	37	10	61832647	61832647	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61832647C>T	uc001jky.3	-	36	8330	c.7992G>A	c.(7990-7992)gaG>gaA	p.E2664E	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.	2664					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						TGGGTGCCTTCTCCTCGGCCT	0.537000														29			18		0	0	0.004990	0	0
SCN2A	6326	broad.mit.edu	37	2	166170157	166170157	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166170157G>A	uc002udc.3	+	8	1352	c.1062G>A	c.(1060-1062)gtG>gtA	p.V354V	SCN2A_uc002udd.3_Silent_p.V354V|SCN2A_uc002ude.3_Silent_p.V354V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	354					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACATCTGTGTGAAGGCTGGTA	0.413000														65			43		0	0	0.003610	0	0
GALNTL5	168391	broad.mit.edu	37	7	151704934	151704934	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:151704934A>T	uc003wkp.3	+	6	1201	c.931A>T	c.(931-933)Att>Ttt	p.I311F	GALNTL5_uc010lqf.3_Missense_Mutation_p.I200F|GALNTL5_uc003wkq.3_Missense_Mutation_p.I62F|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	311	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTCTGGAGGAATTTTTGCTAT	0.323000														54			64		0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6679182	6679182	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6679182G>A	uc002mfm.3	-	37	4646	c.4584C>T	c.(4582-4584)acC>acT	p.T1528T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1528	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTTCTTCCAGGGTGACCTTGT	0.552000														27			9		0	0	0.000978	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389024	39389024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39389024G>A	uc021txg.1	+	0	310	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_031962	NP_114168	Q9BYQ3	KRA93_HUMAN	Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.	91	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCCAGCTGTGGTCAGAGCAG	0.592000														10			38		0	0	0.001287	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188229	72188229	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72188229A>T	uc002fcc.4	-	3	467	c.295T>A	c.(295-297)Ttt>Att	p.F99I	PMFBP1_uc002fcd.3_Missense_Mutation_p.F99I|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	99										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTGTGTGAAACTCCAGTTCT	0.473000														54			37		0	0	0.004289	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754414	31754414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:31754414G>A	uc002rnw.1	-	4	729	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F		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.	221					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)	AGGAAACAAAGTGAGAAAAAT	0.453000														24			17		0	0	0.004990	0	0
POTEC	388468	broad.mit.edu	37	18	14542690	14542690	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14542690G>A	uc010dln.3	-	0	910	c.456C>T	c.(454-456)gtC>gtT	p.V152V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	152								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCTTTCTGGGGACCTTACCCC	0.582000														87			39		0	0	0.002522	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709258	128709258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128709258G>A	uc001qeo.1	-	1	989	c.938C>T	c.(937-939)tCc>tTc	p.S313F	KCNJ1_uc001qep.1_Missense_Mutation_p.S294F|KCNJ1_uc001qeq.1_Missense_Mutation_p.S294F|KCNJ1_uc001qer.1_Missense_Mutation_p.S294F|KCNJ1_uc001qes.1_Missense_Mutation_p.S294F|KCNJ1_uc021qsb.1_Missense_Mutation_p.S294F	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	313					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TGGGACATAGGATGTCCGGAC	0.502000														23			19		0	0	0.002780	0	0
NES	10763	broad.mit.edu	37	1	156642368	156642368	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156642368G>T	uc001fpq.3	-	3	1745	c.1612C>A	c.(1612-1614)Cag>Aag	p.Q538K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	538	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAAGGAACCTGGGAGTCCTGG	0.468000														102			7		0.00307968	0.00640016	0.003080	1	0
ZNF256	10172	broad.mit.edu	37	19	58452658	58452658	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58452658G>A	uc002qqu.3	-	2	1753	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	ZNF256_uc010euj.3_Silent_p.L353L	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	506					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTTGAAGGAGCGTAGAGC	0.453000														34			21		0	0	0.002299	0	0
DLG2	1740	broad.mit.edu	37	11	83585526	83585526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:83585526G>A	uc001paj.2	-	10	1490	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DLG2_uc001pai.2_Missense_Mutation_p.S293F|DLG2_uc010rsy.1_Missense_Mutation_p.S363F|DLG2_uc021qof.1_Missense_Mutation_p.S435F|DLG2_uc010rsz.1_Missense_Mutation_p.S396F|DLG2_uc010rta.1_Missense_Mutation_p.S396F|DLG2_uc001pak.2_Missense_Mutation_p.S501F|DLG2_uc010rtb.1_Missense_Mutation_p.S363F|DLG2_uc001pal.1_Missense_Mutation_p.S396F|DLG2_uc001pam.2_Missense_Mutation_p.S435F	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	396						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTATGTTGGGAATGACTGCA	0.368000														24			9		0	0	0.000443	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996862	62996862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62996862C>T	uc001nwr.1	-	0	263	c.263G>A	c.(262-264)tGt>tAt	p.C88Y	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.C88Y	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	88					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AAAGCGACGACACTTCTCTGG	0.542000														29			22		0	0	0.001523	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530456	109530456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109530456G>A	uc001tnx.2	-	1	529	c.136C>T	c.(136-138)Cca>Tca	p.P46S	ALKBH2_uc001tny.2_Missense_Mutation_p.P46S|ALKBH2_uc010sxj.1_Missense_Mutation_p.P46S|ALKBH2_uc009zvd.2_Missense_Mutation_p.P46S|ALKBH2_uc010sxk.1_Missense_Mutation_p.P46S	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	46					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCATTCCCTGGGGCCTCTCTC	0.587000								Direct reversal of damage						63			43		0	0	0.001706	0	0
STEAP4	79689	broad.mit.edu	37	7	87912293	87912293	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87912293A>T	uc022agz.1	-	3	870	c.647T>A	c.(646-648)tTc>tAc	p.F216Y	STEAP4_uc003ujs.3_Missense_Mutation_p.F216Y|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	216					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.F216L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AACACAATAGAAAAACAAGAA	0.373000														43			22		0	0	0.001523	0	0
OR10G9	219870	broad.mit.edu	37	11	123893873	123893873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123893873C>T	uc010sad.2	+	0	154	c.154C>T	c.(154-156)Cac>Tac	p.H52Y		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGTGGATTCTCACCTCCACAC	0.552000														33			22		0	0	0.005443	0	0
OR2B6	26212	broad.mit.edu	37	6	27925214	27925214	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:27925214C>T	uc011dkx.2	+	0	196	c.196C>T	c.(196-198)Cta>Tta	p.L66L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTACCAATCTATCACTCCT	0.408000														46			31		0	0	0.002445	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252411	145252411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:145252411C>T	uc003lns.1	-	0	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	41										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GACTCTAATTCCTGCCCATCC	0.488000														28			36		0	0	0.002222	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885042	88885043	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:88885042_88885043CC>TT	uc003ydz.3	-	0	1254_1255	c.1157_1158GG>AA	c.(1156-1158)cgg>cAA	p.R386Q		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	386								p.R386Q(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAAGGTCCTCCCGGACAGCCAT	0.550000														45			7		0	0	0.004672	0	0
TELO2	9894	broad.mit.edu	37	16	1551718	1551718	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1551718C>T	uc002cly.3	+	10	1707	c.1416C>T	c.(1414-1416)atC>atT	p.I472I		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	472						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGCAGAGATCGTGGATGGCG	0.657000														27			12		0	0	0.001368	0	0
OR2S2	56656	broad.mit.edu	37	9	35957729	35957729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:35957729G>A	uc011lpi.2	-	0	423	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	123			R -> H (in dbSNP:rs2233563).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACATAGCGATCAAATGCC	0.562000														9			16		0	0	0.004990	0	0
WSCD2	9671	broad.mit.edu	37	12	108603899	108603899	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:108603899G>A	uc001tms.3	+	4	1242	c.498_splice	c.e4-1	p.R166_splice	WSCD2_uc001tmt.3_Splice_Site_p.R166_splice	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	166	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCCCCCAGGGGTTACCTGTA	0.642000														14			15		0	0	0.000958	0	0
PSG3	5671	broad.mit.edu	37	19	43244533	43244533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43244533C>T	uc002oue.3	-	0	136	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	2					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAGAGGGGCCCCATGGTCTCT	0.602000														100			50		0	0	0.003610	0	0
PDE7B	27115	broad.mit.edu	37	6	136494966	136494966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136494966G>A	uc003qgp.3	+	8	1046	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R300Q	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	248	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CATCACTGGCGATCTACAATT	0.413000														38			24		0	0	0.002445	0	0
LOC644936	644936	broad.mit.edu	37	5	79595799	79595799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79595799C>T	uc010jai.3	-	0	499	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		AAGGTAGTTTCGTGGATGCCA	0.522000														5			16		0	0	0.003163	0	0
ZNF623	9831	broad.mit.edu	37	8	144732244	144732244	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144732244C>T	uc003yzd.2	+	0	291	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ZNF623_uc011lkp.1_Silent_p.L28L|ZNF623_uc003yzc.2_Silent_p.L28L	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGTCAGAGCCTGGGGAGTTC	0.582000														33			37		0	0	0.004878	0	0
ABCC9	10060	broad.mit.edu	37	12	21998657	21998657	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21998657G>A	uc001rfh.3	-	23	2996	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F	ABCC9_uc001rfi.1_Silent_p.F992F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	992					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGATGAGCAGGAAGAATCCTC	0.448000														34			22		0	0	0.001882	0	0
TUBG2	27175	broad.mit.edu	37	17	40811958	40811958	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:40811958C>T	uc010wgr.2	+	1	412	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TUBG2_uc002iap.3_5'UTR	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	52					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACGTCTTTTTCTACCAGGTGC	0.657000														3			53		0	0	0.003610	0	0
SLC12A1	6557	broad.mit.edu	37	15	48499970	48499970	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:48499970C>T	uc001zwn.4	+	1	270	c.54C>T	c.(52-54)acC>acT	p.T18T	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Silent_p.T18T|SLC12A1_uc010uex.2_Silent_p.T18T	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	18					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTAATACCAATCGCTTTC	0.393000														30			12		0	0	0.001368	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107854	26107854	+	Silent	SNP	C	T	T	rs141027950		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:26107854C>T	uc003ngj.3	-	0	511	c.468G>A	c.(466-468)ccG>ccA	p.P156P		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	156					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTGTCGCTCTCGGCTTCTTGG	0.488000														75			42		0	0	0.001951	0	0
OR5P3	120066	broad.mit.edu	37	11	7846909	7846909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7846909C>T	uc010rbg.2	-	0	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGATAGATCCAGAAGAGAT	0.423000														39			22		0	0	0.002780	0	0
OR51A4	401666	broad.mit.edu	37	11	4968016	4968016	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4968016G>A	uc010qys.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	105					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)		ATCCATGAATGAAGAATTCCT	0.443000														95			53		0	0	0.003610	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71164	71164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrGL000209.1:71164G>A	uc002qui.2	+	1	69	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.G17S|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.G20S|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	20					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCAGAGGGCCGGTCCACACAT	0.552000														27			34		0	0	0.003610	0	0
NAV1	89796	broad.mit.edu	37	1	201762993	201762993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201762993C>T	uc021phi.1	+	13	3742	c.3395C>T	c.(3394-3396)gCc>gTc	p.A1132V	NAV1_uc001gwu.3_Missense_Mutation_p.A1132V|NAV1_uc001gwv.1_Missense_Mutation_p.A632V|NAV1_uc001gww.2_Missense_Mutation_p.A733V|NAV1_uc001gwx.3_Missense_Mutation_p.A741V|NAV1_uc001gwy.1_Missense_Mutation_p.A505V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1132					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCAGAGACGGCCGAGGAGAAG	0.582000														20			20		0	0	0.002780	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362759	49362759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49362759G>A	uc002pkx.3	-	6	1210	c.659C>T	c.(658-660)tCt>tTt	p.S220F	PLEKHA4_uc010eml.3_Missense_Mutation_p.S220F	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	220	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding	p.S220C(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTGGAGTCCAGAGTGGAGGTC	0.632000														18			14		0	0	0.004007	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429817	74429817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:74429817G>A	uc001ovh.3	-	1	396	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.P48L|CHRDL2_uc001ovk.1_Missense_Mutation_p.P48L	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	48	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCCAAGTAGGGGTGCCAGCT	0.587000														14			5		0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141459789	141459789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141459789G>A	uc002tvj.1	-	38	7195	c.6223C>T	c.(6223-6225)Cgc>Tgc	p.R2075C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2075					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2075H(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)		ACCATCTCGCGATTCCCTCCA	0.403000										TSP Lung(27;0.18)				67			40		0	0	0.002852	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449252	104449252	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:104449252G>A	uc004bbp.2	-	1	1531	c.930C>T	c.(928-930)ttC>ttT	p.F310F	GRIN3A_uc004bbq.1_Silent_p.F310F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	310					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGATCTGTAGGAAGCTCAAGA	0.493000														9			44		0	0	0.001706	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978578	40978578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:40978578C>T	uc002ony.3	+	1	136	c.50C>T	c.(49-51)cCt>cTt	p.P17L	SPTBN4_uc002onx.3_Missense_Mutation_p.P17L|SPTBN4_uc002onz.3_Missense_Mutation_p.P17L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	17	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCCTGCTCCTAACAACAAC	0.647000														15			9		0	0	0.001368	0	0
UNC13C	440279	broad.mit.edu	37	15	54919106	54919106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:54919106G>A	uc021smr.1	+	30	6434	c.6434G>A	c.(6433-6435)cGa>cAa	p.R2145Q	UNC13C_uc021sms.1_Missense_Mutation_p.R2147Q|UNC13C_uc002acm.3_Missense_Mutation_p.R68Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2147	C2 2.				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)		AGAGAAGATCGAATTATCGGA	0.403000														31			21		0	0	0.003330	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713475	222713475	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:222713475C>A	uc001hnh.1	-	3	1385	c.1327G>T	c.(1327-1329)Ggg>Tgg	p.G443W		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	443					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCACGTCCCCACAGAATATC	0.547000														467			9		1.12685e-05	2.35507e-05	0.004482	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17135978	17135978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17135978G>A	uc001mmq.4	-	18	3316	c.3251C>T	c.(3250-3252)tCc>tTc	p.S1084F	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.S704F|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1084					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGAAAAAAGGACTGTACTCG	0.318000														50			35		0	0	0.005524	0	0
ZNF578	147660	broad.mit.edu	37	19	53014946	53014946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53014946C>T	uc002pzp.4	+	5	1556	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H438Y(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGCTTTTATTCATCAGTCAAG	0.383000														60			39		0	0	0.004878	0	0
PCLO	27445	broad.mit.edu	37	7	82764365	82764365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82764365G>A	uc003uhx.2	-	2	2790	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	PCLO_uc003uhv.2_Missense_Mutation_p.P834L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	780	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						ACTGGGACCAGGATGTGAAAT	0.423000														174			69		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179395285	179395285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179395285C>T	uc021vsy.1	-	306	98578	c.98353G>A	c.(98353-98355)Gat>Aat	p.D32785N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D26480N|TTN_uc021vta.1_Missense_Mutation_p.D26413N|TTN_uc021vtb.1_Missense_Mutation_p.D26288N|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33712	Ig-like 145.						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)			TCTCCTTGATCAGATTCAGTG	0.383000														70			46		0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237875071	237875071	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:237875071C>T	uc001hyl.1	+	70	10377	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	RYR2_uc010pxz.1_Silent_p.F374F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3419					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)			AGCAGAACTTCGTTGTACAGA	0.323000														18			22		0	0	0.001882	0	0
CDYL	9425	broad.mit.edu	37	6	4943786	4943786	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:4943786C>T	uc003mwi.3	+	6	1421	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CDYL_uc003mwj.3_Silent_p.F376F|CDYL_uc003mwk.3_Silent_p.F141F|CDYL_uc011dhx.2_Silent_p.F244F|CDYL_uc011dhy.2_Silent_p.F244F	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	430					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.F430F(6)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTAGAAACTTCGTGAATACTT	0.338000														37			33		0	0	0.002836	0	0
H6PD	9563	broad.mit.edu	37	1	9324222	9324222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9324222C>T	uc001apt.3	+	4	1943	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	557	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCGCTGGTCTCCGCCTGGTCC	0.667000														14			13		0	0	0.001855	0	0
BRCA2	675	broad.mit.edu	37	13	32914045	32914045	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:32914045C>T	uc001uub.1	+	10	5780	c.5553C>T	c.(5551-5553)atC>atT	p.I1851I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1851					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTGGTAAAATCGTTTGTGTTT	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				38			65		0	0	0.003610	0	0
ZNF7	7553	broad.mit.edu	37	8	146068344	146068344	+	Missense_Mutation	SNP	G	A	A	rs67781484		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:146068344G>A	uc010mge.3	+	4	2022	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R	ZNF7_uc003zeg.4_Missense_Mutation_p.G618R|ZNF7_uc011lln.2_Missense_Mutation_p.G522R|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.G522R|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	618					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGCCCTGGAAGGGTCCACCTT	0.433000														52			27		0	0	0.004656	0	0
IL32	9235	broad.mit.edu	37	16	3119311	3119311	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3119311G>A	uc002ctq.3	+	5	755	c.660G>A	c.(658-660)gaG>gaA	p.E220E	IL32_uc002ctn.3_Silent_p.E174E|IL32_uc002ctk.3_Silent_p.E117E|IL32_uc002cto.3_Silent_p.E220E|IL32_uc010uwp.2_Silent_p.E154E|IL32_uc010btb.3_Silent_p.E164E|IL32_uc002ctl.3_Silent_p.E174E|IL32_uc002ctm.3_Silent_p.E174E|IL32_uc002ctp.3_Silent_p.E154E|IL32_uc002ctr.3_Silent_p.E154E|IL32_uc002ctt.3_Silent_p.E174E|IL32_uc010uwr.2_Silent_p.E134E|IL32_uc002ctu.3_Silent_p.E165E|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	220					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGGACAAGGAGGAGCTGACAC	0.582000														88			29		0	0	0.001786	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677134	7677134	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7677134C>T	uc002mgu.4	+	12	1937	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	CAMSAP3_uc002mgv.4_Silent_p.S585S|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	585					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GAGCGGGGTCCCCCACGTCCA	0.647000														6			6		0	0	0.001168	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692900	26692900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26692900G>A	uc003acb.3	+	3	1212	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	SEZ6L_uc003acd.3_Missense_Mutation_p.G339E|SEZ6L_uc011akd.2_Missense_Mutation_p.G339E|SEZ6L_uc003ace.3_Missense_Mutation_p.G339E|SEZ6L_uc011akc.2_Missense_Mutation_p.G339E|SEZ6L_uc003acc.3_Missense_Mutation_p.G339E|SEZ6L_uc003acf.1_Missense_Mutation_p.G112E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G112E	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	339	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCATCCGCGGGGTGGACGGC	0.592000														5			15		0	0	0.003163	0	0
PSMD5	5711	broad.mit.edu	37	9	123589142	123589142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:123589142G>A	uc004bko.3	-	5	734	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	PSMD5_uc011lye.2_Missense_Mutation_p.H196Y	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	239					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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGTCGCCCATGATGAGTATAT	0.393000														21			68		0	0	0.003610	0	0
BEND4	389206	broad.mit.edu	37	4	42119748	42119748	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:42119748G>A	uc003gwn.3	-	5	1972	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	BEND4_uc003gwm.3_Missense_Mutation_p.H441Y	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	464	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCATCCTAATGAATTCTGCAG	0.468000														6			10		0	0	0.000673	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403518	85403518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:85403518G>A	uc001dkm.3	-	10	1496	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	419						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GCACAAAACCGAAGAACTTTT	0.403000														14			15		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179444372	179444372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179444372C>T	uc021vsy.1	-	267	60073	c.59848G>A	c.(59848-59850)Gaa>Aaa	p.E19950K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13645K|TTN_uc021vta.1_Missense_Mutation_p.E13578K|TTN_uc021vtb.1_Missense_Mutation_p.E13453K|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20877	Fibronectin type-III 44.						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)			AAGGTATATTCCTTCCCTTCA	0.418000														74			46		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61967904	61967904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61967904C>T	uc001jky.3	-	9	1422	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ANK3_uc010qih.2_Missense_Mutation_p.D345N|ANK3_uc001jkz.4_Missense_Mutation_p.D356N|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.D23N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	362					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D362G(1)		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						TTGGTGACATCATCCACGGGT	0.483000														26			11		0	0	0.000673	0	0
LY96	23643	broad.mit.edu	37	8	74922334	74922334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:74922334G>A	uc003yad.3	+	2	415	c.301G>A	c.(301-303)Gat>Aat	p.D101N	LY96_uc022awb.1_Missense_Mutation_p.D71N	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	101					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313000														40			58		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7531710	7531710	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7531710G>A	uc010sge.2	-	8	2291	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	CD163L1_uc001qsy.3_Silent_p.F745F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	745	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.S755S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCTTTCTGTGAAATGAGGCT	0.473000														56			36		0	0	0.002222	0	0
OR2G3	81469	broad.mit.edu	37	1	247769053	247769053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	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														97			108		0	0	0.003610	0	0
FAM49A	81553	broad.mit.edu	37	2	16742758	16742758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:16742758C>T	uc010exm.2	-	5	627	c.479G>A	c.(478-480)aGa>aAa	p.R160K	FAM49A_uc002rck.2_Missense_Mutation_p.R160K	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	160						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ACTGATTGTTCTTCTGTAGTA	0.483000														42			20		0	0	0.003954	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119216990	119216990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:119216990G>A	uc010rzg.1	-	1	309	c.149C>T	c.(148-150)cCc>cTc	p.P50L	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	50					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACCATGCCAGGGAGCTGGGAC	0.602000														8			4		0	0	0.000248	0	0
USH1C	10083	broad.mit.edu	37	11	17542924	17542924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17542924C>T	uc001mnf.3	-	12	1163	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	USH1C_uc001mne.3_Missense_Mutation_p.E352K|USH1C_uc009yhb.3_Missense_Mutation_p.E333K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.E316K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	352					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						CTCTCATTTTCCTCTGCTGCC	0.493000														59			40		0	0	0.002222	0	0
OR4K1	79544	broad.mit.edu	37	14	20404664	20404664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20404664C>T	uc001vwj.2	+	0	898	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P280P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTTGTACTCCCTTGTTGAAC	0.418000														48			38		0	0	0.005524	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034620	9034620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9034620G>A	uc003brf.1	-	19	3204	c.2528C>T	c.(2527-2529)tCg>tTg	p.S843L	SRGAP3_uc003brg.1_Missense_Mutation_p.S819L	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	843					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCCGTAATCCGAGATGTGCTC	0.557000			T	RAF1	pilocytic astrocytoma									36			12		0	0	0.001368	0	0
TMC7	79905	broad.mit.edu	37	16	19051670	19051670	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:19051670G>A	uc002dfp.2	+	8	1369	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V	TMC7_uc010vao.1_Missense_Mutation_p.D408N|TMC7_uc002dfq.3_Silent_p.V413V|TMC7_uc010vap.2_Silent_p.V303V	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	413						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGTCTATTGTGATCACGCTGG	0.413000														40			29		0	0	0.001786	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095023	69095023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69095023C>T	uc003hdw.4	-	7	1034	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	300	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTGTCATTTTCTGAGAGCTTC	0.348000														51			29		0	0	0.003271	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891226	29891226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29891226G>A	uc010vec.2	-	8	1777	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P441L|SEZ6L2_uc002dur.4_Missense_Mutation_p.P441L|SEZ6L2_uc002duq.4_Missense_Mutation_p.P511L|SEZ6L2_uc010ved.2_Missense_Mutation_p.P467L|SEZ6L2_uc002dus.4_Missense_Mutation_p.P397L	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	511	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGTTCTGTGGGATCCACACA	0.622000														79			52		0	0	0.003610	0	0
TANC1	85461	broad.mit.edu	37	2	160028664	160028664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:160028664C>T	uc002uag.3	+	10	1658	c.1384C>T	c.(1384-1386)Ccg>Tcg	p.P462S	TANC1_uc010fol.1_Missense_Mutation_p.P356S|TANC1_uc010zcm.2_Missense_Mutation_p.P454S|TANC1_uc010fom.1_Missense_Mutation_p.P268S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	462						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCATTTCACTCCGTTGCTTTC	0.463000														40			20		0	0	0.002780	0	0
ZNF99	7652	broad.mit.edu	37	19	22941105	22941105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22941105G>A	uc021urt.1	-	3	1761	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S		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)				CATTTGTAGGGTTTCTTTCCA	0.343000														33			19		0	0	0.001882	0	0
APBB2	323	broad.mit.edu	37	4	41015685	41015685	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:41015685G>A	uc003gvn.3	-	5	1380	c.750C>T	c.(748-750)atC>atT	p.I250I	APBB2_uc003gvl.3_Silent_p.I250I|APBB2_uc003gvm.3_Silent_p.I250I|APBB2_uc011byt.1_Silent_p.I233I	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	250					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.I250I(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCAGGTTCTGGATCCGGTGCA	0.587000														115			86		0	0	0.003610	0	0
ROBO1	6091	broad.mit.edu	37	3	79639009	79639009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:79639009G>A	uc003dqe.2	-	1	261	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	18					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGATTTGGGGATAAGCTGAG	0.403000														83			46		0	0	0.003610	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030402	110030402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110030402C>T	uc001dxr.3	+	4	691	c.676C>T	c.(676-678)Cct>Tct	p.P226S	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	226										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGGCTGCCCCCTAAAACCCA	0.587000														89			77		0	0	0.003610	0	0
TIGD7	91151	broad.mit.edu	37	16	3349419	3349419	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3349419C>T	uc021tcc.1	-	0	1196	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Nonsense_Mutation_p.W399*	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	399	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAGATTTTCCCATGCATTTGC	0.313000														74			52		0	0	0.003610	0	0
KLK12	43849	broad.mit.edu	37	19	51535145	51535145	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51535145G>A	uc002pvh.1	-	3	561	c.444C>T	c.(442-444)acC>acT	p.T148T	KLK12_uc002pvg.1_Silent_p.T148T|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Silent_p.T148T|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	148	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GTGGGTGGTTGGTGATGCCCC	0.647000														53			28		0	0	0.002445	0	0
SH2D5	400745	broad.mit.edu	37	1	21051026	21051026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21051026C>T	uc009vpy.1	-	5	995	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	SH2D5_uc001bdt.1_Missense_Mutation_p.G81R|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	81										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCACCTCCCCTGTGGGCCCT	0.662000														12			5		0	0	0.000602	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176983946C>T	uc001glc.3	-	7	1716	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	ASTN1_uc001glb.1_Missense_Mutation_p.E502K|ASTN1_uc001gld.1_Missense_Mutation_p.E502K|ASTN1_uc009wwx.1_Missense_Mutation_p.E502K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	510	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000														138			168		0	0	0.003610	0	0
LRTM2	654429	broad.mit.edu	37	12	1943471	1943471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:1943471G>A	uc001qjt.2	+	4	1503	c.697G>A	c.(697-699)Gag>Aag	p.E233K	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.E233K|LRTM2_uc010sdx.1_Missense_Mutation_p.E233K|LRTM2_uc001qjv.2_5'UTR	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	233	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGCCCAAGGAGCTGAGGGG	0.582000														24			11		0	0	0.001855	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549427	58549427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58549427G>A	uc002qrc.1	+	2	470	c.223G>A	c.(223-225)Gag>Aag	p.E75K	ZSCAN1_uc002qra.1_Missense_Mutation_p.E75K|ZSCAN1_uc002qrb.1_Missense_Mutation_p.E75K	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		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;0.0152)		GCGCTCCAAGGAGCAGATGCT	0.706000														10			8		0	0	0.000443	0	0
LINS	55180	broad.mit.edu	37	15	101114334	101114334	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:101114334G>A	uc002bwg.3	-	4	967	c.744C>T	c.(742-744)atC>atT	p.I248I	LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Silent_p.I129I|LINS_uc002bwi.3_Silent_p.I248I	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	248										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AACACATCAGGATGTTTACTA	0.378000														26			21		0	0	0.001882	0	0
C12orf74	338809	broad.mit.edu	37	12	93100769	93100769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:93100769C>T	uc001tch.2	+	1	813	c.362C>T	c.(361-363)tCa>tTa	p.S121L	C12orf74_uc001tci.3_Missense_Mutation_p.S121L|C12orf74_uc021rbt.1_Missense_Mutation_p.S121L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	121										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCAGCTGACTCACTGGAGCCC	0.552000														46			21		0	0	0.002299	0	0
FSHR	2492	broad.mit.edu	37	2	49190007	49190007	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:49190007G>A	uc002rww.3	-	9	2063	c.1953C>T	c.(1951-1953)gcC>gcT	p.A651A	FSHR_uc010fbn.3_Silent_p.A625A|FSHR_uc002rwx.3_Silent_p.A589A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	651					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATAAATTTGGGCTTGCATTT	0.473000									Gonadal Dysgenesis, 46 XX					28			23		0	0	0.002780	0	0
CRNN	49860	broad.mit.edu	37	1	152382811	152382811	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152382811C>T	uc001ezx.2	-	2	821	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	249	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCCTGTCTGGTGGCTGC	0.597000														108			134		0	0	0.003610	0	0
ANK2	287	broad.mit.edu	37	4	114208808	114208808	+	Silent	SNP	T	C	C	rs113454484	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:114208808T>C	uc003ibe.4	+	18	2227	c.2127T>C	c.(2125-2127)aaT>aaC	p.N709N	ANK2_uc003ibd.4_Silent_p.N688N|ANK2_uc003ibf.4_Silent_p.N709N|ANK2_uc003ibc.2_Silent_p.N685N|ANK2_uc011cgb.1_Silent_p.N724N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	709					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATAAAGTGAATGTTGCTGATA	0.423000														18			12		0	0	0.003163	0	0
ALS2CL	259173	broad.mit.edu	37	3	46724752	46724752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46724752G>A	uc003cqa.2	-	9	1170	c.977C>T	c.(976-978)cCc>cTc	p.P326L	ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.P326L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	326					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCCCAGCACGGGGAAGTCCTT	0.662000														6			4		0	0	0.000248	0	0
KIAA1751	85452	broad.mit.edu	37	1	1897835	1897835	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1897835C>T	uc001aim.1	-	11	1532	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	KIAA1751_uc009vkz.1_Nonsense_Mutation_p.W459*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	459										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTCTTCATTCCAAAGCCCAGA	0.607000														22			15		0	0	0.004990	0	0
LILRP2	79166	broad.mit.edu	37	19	55221554	55221554	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55221554G>A	uc002qgs.1	+	0		c.1954G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CTCCCACGGGGGCCAGTACAG	0.677000														18			8		0	0	0.003080	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497337	39497337	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39497337G>A	uc021wpt.1	+	2	373	c.246G>A	c.(244-246)tgG>tgA	p.W82*	APOBEC3H_uc021wps.1_Nonsense_Mutation_p.W82*|APOBEC3H_uc021wpu.1_Nonsense_Mutation_p.W82*|APOBEC3H_uc021wpv.1_Nonsense_Mutation_p.W82*	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	82					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					ACCTCACGTGGAGCCCCTGCT	0.537000														34			21		0	0	0.002299	0	0
KIF4B	285643	broad.mit.edu	37	5	154393517	154393517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:154393517C>T	uc010jih.1	+	0	258	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	33	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)			ATGTGCCTTTCCTTCGTGCCC	0.512000														7			19		0	0	0.000958	0	0
SYNE1	23345	broad.mit.edu	37	6	152532666	152532666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152532666C>T	uc021zhb.1	-	121	22775	c.22552G>A	c.(22552-22554)Ggg>Agg	p.G7518R	SYNE1_uc003qos.4_Missense_Mutation_p.G2042R|SYNE1_uc003qot.4_Missense_Mutation_p.G7447R|SYNE1_uc003qou.4_Missense_Mutation_p.G7518R|SYNE1_uc003qor.4_Missense_Mutation_p.G418R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7518					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACGTTGCCCATCAATAATG	0.318000										HNSCC(10;0.0054)				40			18		0	0	0.002299	0	0
ASXL3	80816	broad.mit.edu	37	18	31323386	31323386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31323386C>T	uc010dmg.1	+	11	3629	c.3574C>T	c.(3574-3576)Cca>Tca	p.P1192S	ASXL3_uc002kxq.2_Missense_Mutation_p.P899S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGTAAACTTCCAGAAACTGC	0.413000														27			18		0	0	0.004990	0	0
ZAN	7455	broad.mit.edu	37	7	100350328	100350328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100350328C>T	uc003uwj.3	+	13	2765	c.2600C>T	c.(2599-2601)tCc>tTc	p.S867F	ZAN_uc003uwk.3_Missense_Mutation_p.S867F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	867	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCCCAGAAAAA	0.488000														28			34		0	0	0.003271	0	0
CORIN	10699	broad.mit.edu	37	4	47625725	47625725	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47625725C>T	uc003gxm.3	-	18	2496	c.2403G>A	c.(2401-2403)agG>agA	p.R801R	CORIN_uc011bzf.2_Silent_p.R662R|CORIN_uc011bzg.2_Silent_p.R734R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	801	SRCR.	Cleavage (Probable).			peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTCCAAGGATCCTTTTGTTCA	0.542000														48			23		0	0	0.004656	0	0
OR14J1	442191	broad.mit.edu	37	6	29275263	29275263	+	Missense_Mutation	SNP	C	T	T	rs139773321		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29275263C>T	uc011dln.2	+	0	797	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266*(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GATTCCTCATCGACTGTGGAC	0.458000														68			49		0	0	0.003610	0	0
CADM4	199731	broad.mit.edu	37	19	44131342	44131342	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44131342G>A	uc002oxc.1	-	2	389	c.340C>T	c.(340-342)Cag>Tag	p.Q114*		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	114	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTGGCAATCTGGTGGTGGGTG	0.592000														34			37		0	0	0.002222	0	0
SHANK2	22941	broad.mit.edu	37	11	70331836	70331836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:70331836G>A	uc001oqc.3	-	20	4476	c.4364C>T	c.(4363-4365)tCc>tTc	p.S1455F	SHANK2_uc010rqn.2_Missense_Mutation_p.S931F|SHANK2_uc001opz.3_Missense_Mutation_p.S926F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1142	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCACCTTCGGAAGACAGGGT	0.552000														28			27		0	0	0.001061	0	0
FNDC3A	22862	broad.mit.edu	37	13	49688850	49688850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:49688850C>T	uc001vcm.3	+	3	540	c.235C>T	c.(235-237)Cct>Tct	p.P79S	FNDC3A_uc001vcl.1_Missense_Mutation_p.P79S|FNDC3A_uc001vcn.3_Missense_Mutation_p.P79S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.P23S|FNDC3A_uc001vcq.3_Missense_Mutation_p.P23S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	79	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATGTGCCTCCTGGATATGC	0.358000														169			202		0	0	0.003610	0	0
KRT71	112802	broad.mit.edu	37	12	52940176	52940176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52940176C>T	uc001sao.3	-	6	1289	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	407	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGCGCCAGCTCCTCCTTGGCC	0.652000														22			12		0	0	0.001368	0	0
NCOA6	23054	broad.mit.edu	37	20	33345246	33345246	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33345246G>A	uc002xav.3	-	7	3876	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	NCOA6_uc002xaw.3_Silent_p.F435F|NCOA6_uc021wcd.1_Silent_p.F435F|NCOA6_uc021wce.1_Silent_p.F435F|NCOA6_uc021wcf.1_Silent_p.F435F|NCOA6_uc010gew.1_Silent_p.F392F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	435	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATCCCTGCTGGAAGGAGGAGG	0.582000														30			49		0	0	0.003610	0	0
LOC399753	399753	broad.mit.edu	37	10	49239415	49239415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:49239415G>A	uc001jgd.3	-	0	244	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TCCCGGTCACGAACCTGGTGC	0.587000														49			13		0	0	0.004656	0	0
NTM	50863	broad.mit.edu	37	11	132177686	132177686	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:132177686C>T	uc010sci.2	+	4	961	c.630C>T	c.(628-630)ccC>ccT	p.P210P	NTM_uc001qgm.3_Silent_p.P210P|NTM_uc010sch.2_Silent_p.P201P|NTM_uc010scj.2_Silent_p.P169P|NTM_uc001qgo.3_Silent_p.P210P|NTM_uc001qgq.3_Silent_p.P210P|NTM_uc001qgp.3_Silent_p.P210P	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	210	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.P210P(3)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGGCCGCGCCCGTGGTACGGA	0.577000														14			10		0	0	0.000673	0	0
CR2	1380	broad.mit.edu	37	1	207653369	207653369	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207653369C>T	uc001hfw.3	+	16	3101	c.2982C>T	c.(2980-2982)acC>acT	p.T994T	CR2_uc001hfv.3_Silent_p.T1053T|CR2_uc009xch.3_Silent_p.T932T	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	994					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGTCATTACCTTATACGTGA	0.393000														60			23		0	0	0.001061	0	0
TPO	7173	broad.mit.edu	37	2	1457515	1457515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1457515C>T	uc002qwr.3	+	5	618	c.532C>T	c.(532-534)Cct>Tct	p.P178S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P178S|TPO_uc002qwx.3_Missense_Mutation_p.P178S|TPO_uc002qwu.3_Missense_Mutation_p.P178S|TPO_uc010yio.2_Missense_Mutation_p.P178S|TPO_uc010yip.2_Missense_Mutation_p.P178S	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	178					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGATGGCTCCCTCCAGTCTA	0.602000														38			19		0	0	0.000958	0	0
KCTD1	284252	broad.mit.edu	37	18	24039767	24039767	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:24039767G>A	uc010xbj.2	-	3	2256	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	KCTD1_uc002kvw.3_Silent_p.V144V|KCTD1_uc010xbk.2_Silent_p.V144V|KCTD1_uc002kvy.3_Silent_p.V62V	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	144					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCACACGCACGACGAGGCACT	0.493000														59			38		0	0	0.004878	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418887	10418888	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10418887_10418888GG>AA	uc002mnw.4	-	0	1346_1347	c.470_471CC>TT	c.(469-471)tcc>tTT	p.S157F	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	157					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGCAGGCTGGAGTCCGGCTT	0.629000														36			36		0	0	0.004672	0	0
MAPK12	6300	broad.mit.edu	37	22	50696677	50696677	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:50696677C>T	uc003bkm.1	-	2	460	c.309G>A	c.(307-309)acG>acA	p.T103T	MAPK12_uc003bko.2_Silent_p.T23T|MAPK12_uc003bkl.1_Silent_p.T103T|MAPK12_uc003bkq.2_5'UTR|MAPK12_uc010haw.3_Silent_p.T103T	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	103	Protein kinase.		T -> M (in dbSNP:rs34422484).		DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACAAGTCCGTGAAGTCAT	0.612000														26			19		0	0	0.001882	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202091	140202091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140202091C>T	uc003lhl.2	+	0	731	c.731C>T	c.(730-732)tCc>tTc	p.S244F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S244F|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S244F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	260	Cadherin 2.				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)			TTTGATAAATCCATTTATAAT	0.388000														16			37		0	0	0.004289	0	0
TGM6	343641	broad.mit.edu	37	20	2411657	2411657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2411657G>A	uc002wfy.1	+	11	2012	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	651					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)	CCTTCTCCAGGAACAGCTCAG	0.592000														14			23		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179406264	179406264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179406264C>T	uc021vsy.1	-	298	90061	c.89836G>A	c.(89836-89838)Gat>Aat	p.D29946N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D23641N|TTN_uc021vta.1_Missense_Mutation_p.D23574N|TTN_uc021vtb.1_Missense_Mutation_p.D23449N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30873	Fibronectin type-III 118.						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)			GTCATGCCATCACGGGAAACA	0.458000														5			10		0	0	0.000673	0	0
IKBKE	9641	broad.mit.edu	37	1	206652286	206652286	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:206652286G>A	uc001hdz.2	+	10	1571	c.993_splice	c.e10-1	p.T331_splice	IKBKE_uc001hea.2_Splice_Site_p.T246_splice|IKBKE_uc009xbv.2_Splice_Site_p.T331_splice	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	331					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGTCTAGGATAGCCATTT	0.622000														71			30		0	0	0.001485	0	0
SNX9	51429	broad.mit.edu	37	6	158288663	158288663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:158288663C>T	uc003qqv.1	+	1	270	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	33	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AATCACAAATCCGGTAAGAGA	0.408000														17			13		0	0	0.001855	0	0
LAMA5	3911	broad.mit.edu	37	20	60888162	60888162	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:60888162G>A	uc002ycq.3	-	64	9004	c.8937C>T	c.(8935-8937)ctC>ctT	p.L2979L	LAMA5_uc021wfw.1_Silent_p.L2979L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2979	Laminin G-like 2.				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	p.V2978G(1)		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)	TCAGGAAGAAGAGCACCCCGC	0.637000														16			8		0	0	0.004482	0	0
NRXN3	9369	broad.mit.edu	37	14	79117583	79117583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:79117583G>A	uc001xun.3	+	2	507	c.16G>A	c.(16-18)Gac>Aac	p.D6N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.D140N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.D6E(1)		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)		GGGCTCGGACGACTTCTTCTA	0.522000														11			72		0	0	0.003610	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708261	106708261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:106708261C>T	uc001tln.3	+	2	457	c.283C>T	c.(283-285)Cca>Tca	p.P95S	TCP11L2_uc001tll.3_Missense_Mutation_p.P95S|TCP11L2_uc001tlm.3_Missense_Mutation_p.P95S	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	95										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGAGGCTCTCCCAGAAAAGAG	0.418000														34			10		0	0	0.000673	0	0
ANXA1	301	broad.mit.edu	37	9	75783979	75783979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75783979G>A	uc004ajf.1	+	11	967	c.893G>A	c.(892-894)aGg>aAg	p.R298K	ANXA1_uc004ajg.1_Missense_Mutation_p.R298K	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	298					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCATTGATCAGGATTATGGTT	0.368000														21			119		0	0	0.003610	0	0
ABCA4	24	broad.mit.edu	37	1	94577031	94577031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:94577031C>T	uc001dqh.3	-	2	369	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ABCA4_uc010otn.1_Missense_Mutation_p.E89K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	89					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGGAGATTCTCCTGGGGTG	0.512000														13			14		0	0	0.001855	0	0
TCRA	0	broad.mit.edu	37	14	22636806	22636806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22636806G>A	uc001wdi.2	+	1	291	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		TTCATTTAATGAAAAAAAGCA	0.483000														22			24		0	0	0.004656	0	0
ITGAL	3683	broad.mit.edu	37	16	30486649	30486649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30486649G>A	uc002dyi.4	+	2	363	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.E63K|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	63					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGCTCCAGGGGAGGGGAACAG	0.597000														67			33		0	0	0.004878	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814467	106814467	+	Silent	SNP	G	A	A	rs111634505		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:106814467G>A	uc003ymd.3	+	7	2180	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	ZFPM2_uc011lhs.2_Silent_p.K450K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	719					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)			CTCCACTGAAGAGGTCTGCTT	0.512000														15			27		0	0	0.001271	0	0
MMP13	4322	broad.mit.edu	37	11	102826022	102826022	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:102826022G>A	uc001phl.3	-	1	350	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	107					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGTTCGAGGGAAAACATTGT	0.378000														33			36		0	0	0.005524	0	0
SALL1	6299	broad.mit.edu	37	16	51174308	51174308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:51174308G>A	uc021tif.1	-	1	1856	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	SALL1_uc021tid.1_Missense_Mutation_p.P512S|SALL1_uc021tie.1_Missense_Mutation_p.P609S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	609					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTTCCTCTGGGAGCCCACCT	0.622000														16			12		0	0	0.001368	0	0
AK308309	0	broad.mit.edu	37	4	119435187	119435187	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119435187T>A	uc010imy.1	+	1	542	c.473T>A	c.(472-474)tTt>tAt	p.F158Y	CEP170P1_uc003icb.3_5'Flank					Homo sapiens cDNA, FLJ98257.																		GAGGAAACTTTTAAACAAGAA	0.393000														38			24		0	0	0.005443	0	0
FUK	197258	broad.mit.edu	37	16	70506488	70506488	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70506488C>T	uc010cft.3	+	13	1540	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	FUK_uc002eyy.3_Silent_p.F462F|FUK_uc002eyz.3_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	462						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGAGTGAATTCTTCAAGAGGA	0.607000														9			5		0	0	0.001168	0	0
FCRL5	83416	broad.mit.edu	37	1	157490960	157490960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157490960G>A	uc009wsm.3	-	10	2520	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H788Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	788	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.F787F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGAAAAAACCGG	0.592000														54			20		0	0	0.001882	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505242	37505242	+	Silent	SNP	G	A	A	rs140013037	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37505242G>A	uc021ppc.1	+	31	2934	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	ANKRD30A_uc001iza.1_Silent_p.K945K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1001						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						TACTGAAAAAGAAACTGTCAG	0.343000														51			34		0	0	0.002836	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515107	233515107	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:233515107G>A	uc001hvt.4	+	8	2616	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G	KIAA1804_uc001hvu.4_Silent_p.G231G	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	785					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCACCTGTGGGGAGGCCAGCA	0.597000														43			17		0	0	0.000743	0	0
AGBL1	123624	broad.mit.edu	37	15	86940627	86940627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:86940627G>A	uc002blz.1	+	16	2347	c.2267G>A	c.(2266-2268)cGa>cAa	p.R756Q		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	756					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.A755T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCACTGCTCGAGTTCATCCA	0.433000														29			13		0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	170011012	170011012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:170011012G>A	uc002ues.3	-	65	12466	c.12253C>T	c.(12253-12255)Caa>Taa	p.Q4085*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4085					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAACAGCTTGGATATATTCC	0.373000														36			36		0	0	0.003755	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724911	7724911	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:7724911C>T	uc001aoi.3	+	8	2511	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTGACATCTCCTTCAGCAACC	0.632000			T	WWTR1	epitheliod hemangioendothelioma									123			68		0	0	0.003610	0	0
MYO9A	4649	broad.mit.edu	37	15	72190967	72190967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:72190967G>A	uc002atl.4	-	24	4350	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MYO9A_uc010biq.3_Missense_Mutation_p.R913C|MYO9A_uc002atn.1_Missense_Mutation_p.R1274C|MYO9A_uc002atk.3_Missense_Mutation_p.R17C|MYO9A_uc002atm.1_Missense_Mutation_p.R17C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1293	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	p.V1292V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAGAGAACGAACTTTCAGC	0.463000														39			36		0	0	0.002836	0	0
BTG2	7832	broad.mit.edu	37	1	203276294	203276294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:203276294C>T	uc001gzq.3	+	1	276	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LOC730227_uc009xao.2_5'Flank|LOC730227_uc001gzp.2_5'Flank	NM_006763	NP_006754	P78543	BTG2_HUMAN	Homo sapiens BTG family, member 2 (BTG2), mRNA.	69					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R69G(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCTGCATTCGCATCAACCA	0.612000														28			10		0	0	0.000443	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45947834	45947834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:45947834G>A	uc001nbv.1	+	7	1055	c.944G>A	c.(943-945)tGg>tAg	p.W315*	GYLTL1B_uc001nbw.1_Nonsense_Mutation_p.W284*|GYLTL1B_uc001nbx.1_Nonsense_Mutation_p.W315*	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	315					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCTTGTGTCTGGAATGTGCAG	0.607000														36			25		0	0	0.004656	0	0
MYH7B	57644	broad.mit.edu	37	20	33568446	33568446	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33568446C>A	uc002xbi.2	+	7	851	c.534C>A	c.(532-534)tcC>tcA	p.S178S	MYH7B_uc010gfa.1_Silent_p.S136S	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	136	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)			ATACGGCCTCCGTAGTGGCTG	0.542000														158			6		0.00198382	0.00412773	0.001984	1	0
EGFLAM	133584	broad.mit.edu	37	5	38418293	38418293	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38418293G>A	uc003jlc.2	+	11	1966	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	EGFLAM_uc003jlb.2_Silent_p.V540V|EGFLAM_uc003jle.2_Silent_p.V306V|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	540	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CGCTCGCTGTGAATGGGAGGA	0.572000														25			21		0	0	0.001523	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509205	7509205	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7509205C>T	uc002mgi.3	+	3	1165	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ARHGEF18_uc010xjm.1_Silent_p.F146F|ARHGEF18_uc002mgh.3_Silent_p.F146F|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	304	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCGCCTCTTCCCATGCGCTG	0.632000														22			17		0	0	0.000958	0	0
DPPA3	359787	broad.mit.edu	37	14	36840634	36840634	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:36840634T>C	uc001wtp.3	+	0	265	c.16T>C	c.(16-18)Ttt>Ctt	p.F6L		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	6						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCCATCACAGTTTAATCCAAC	0.478000														2			22		0	0	0.003954	0	0
COL5A2	1290	broad.mit.edu	37	2	189907490	189907490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189907490C>T	uc002uqk.3	-	48	3756	c.3481G>A	c.(3481-3483)Ggt>Agt	p.G1161S	COL5A2_uc010frx.3_Missense_Mutation_p.G737S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1161					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTTGTTCACCATTTGGACCC	0.378000														15			18		0	0	0.000743	0	0
CYP3A7	1551	broad.mit.edu	37	7	99317939	99317939	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99317939C>T	uc003uru.3	-	3	418	c.315G>A	c.(313-315)cgG>cgA	p.R105R	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	105					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGCTTACCCTCCGGTTTGTGA	0.323000														21			107		0	0	0.003610	0	0
ZEB1	6935	broad.mit.edu	37	10	31809368	31809368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31809368C>T	uc001ivs.4	+	6	1168	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	ZEB1_uc001ivr.4_Missense_Mutation_p.P151S|ZEB1_uc010qef.2_Missense_Mutation_p.P151S|ZEB1_uc009xlj.1_Missense_Mutation_p.P295S|ZEB1_uc010qeg.1_Missense_Mutation_p.P228S|ZEB1_uc009xlk.1_Missense_Mutation_p.P151S|ZEB1_uc001ivu.4_Missense_Mutation_p.P370S|ZEB1_uc010qeh.2_Missense_Mutation_p.P302S|ZEB1_uc001ivv.4_Missense_Mutation_p.P349S|ZEB1_uc001ivt.4_Missense_Mutation_p.P151S|ZEB1_uc009xlo.2_Missense_Mutation_p.P352S|ZEB1_uc009xlp.3_Missense_Mutation_p.P353S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	369					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)				CTGTTCAACCCCTTTACAAAA	0.443000														24			13		0	0	0.001368	0	0
FAM129C	199786	broad.mit.edu	37	19	17654183	17654183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17654183G>A	uc021uqj.1	+	11	1618	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	FAM129C_uc021uqi.1_Missense_Mutation_p.A494T|FAM129C_uc002ngy.4_Missense_Mutation_p.A220T|FAM129C_uc010xpu.2_Missense_Mutation_p.A220T|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.A220T|FAM129C_uc002nhb.3_Missense_Mutation_p.A93T	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	494										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCTGACGACGGCCCTCAACTG	0.632000														78			44		0	0	0.003214	0	0
CRB1	23418	broad.mit.edu	37	1	197398614	197398614	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197398614C>T	uc001gtz.3	+	7	2921	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CRB1_uc010poz.2_Silent_p.S880S|CRB1_uc009wza.3_Silent_p.S792S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Silent_p.S385S|CRB1_uc001gub.1_Silent_p.S553S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	904	EGF-like 13.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.H903N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGCCATTCCCGGTGGGATG	0.507000														102			29		0	0	0.002836	0	0
LZTS2	84445	broad.mit.edu	37	10	102763772	102763772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102763772C>T	uc001ksj.3	+	2	1087	c.917C>T	c.(916-918)tCc>tTc	p.S306F	LZTS2_uc010qpw.2_Missense_Mutation_p.S306F|LZTS2_uc001ksk.3_Missense_Mutation_p.S306F|LZTS2_uc001ksl.3_Missense_Mutation_p.S306F|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	306	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GACAGCAGCTCCTGTGGGGAG	0.677000														24			16		0	0	0.003163	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285750	248285750	+	Missense_Mutation	SNP	G	A	A	rs140949928		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248285750G>A	uc001idy.1	+	0	313	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TGGGTCTCGGGAAATAGCCCA	0.403000														125			47		0	0	0.003610	0	0
ZNF883	169834	broad.mit.edu	37	9	115760185	115760185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:115760185G>A	uc011lwy.2	-	4	1594	c.355C>T	c.(355-357)Cat>Tat	p.H119Y		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCTCCAGTATGGATTCTCTCA	0.388000														5			29		0	0	0.001061	0	0
EXD2	55218	broad.mit.edu	37	14	69707717	69707717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:69707717C>T	uc001xky.3	+	9	2012	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	EXD2_uc001xkt.3_Missense_Mutation_p.S464F|EXD2_uc001xkv.3_Missense_Mutation_p.S589F|EXD2_uc001xkw.3_Missense_Mutation_p.S464F|EXD2_uc001xku.3_Missense_Mutation_p.S334F|EXD2_uc001xkx.3_Missense_Mutation_p.S464F|EXD2_uc010aqt.3_Missense_Mutation_p.S589F|EXD2_uc010tte.2_Missense_Mutation_p.S589F	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	464					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCCTGGACTCCATGCAGCCC	0.602000														5			29		0	0	0.001271	0	0
CADM2	253559	broad.mit.edu	37	3	86028388	86028388	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:86028388A>C	uc003dql.3	+	7	1024	c.1024A>C	c.(1024-1026)Ata>Cta	p.I342L	CADM2_uc003dqj.3_Missense_Mutation_p.I340L|CADM2_uc003dqk.3_Intron|CADM2_uc003dqm.2_Missense_Mutation_p.I232L|CADM2_uc021xay.1_Intron|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Missense_Mutation_p.I232L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	340	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.A341S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CACTGTAGCCATAACAACCAG	0.448000														107			63		0	0	0.003610	0	0
HNF4A	3172	broad.mit.edu	37	20	43034831	43034831	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:43034831C>T	uc002xma.3	+	1	338	c.249C>T	c.(247-249)ttC>ttT	p.F83F	HNF4A_uc010zwo.1_Missense_Mutation_p.S74F|HNF4A_uc002xlt.3_Silent_p.F61F|HNF4A_uc002xlu.3_Silent_p.F61F|HNF4A_uc002xlv.3_Silent_p.F61F|HNF4A_uc002xly.3_Silent_p.F83F|HNF4A_uc010ggq.3_Silent_p.F76F|HNF4A_uc002xlz.3_Silent_p.F83F|MIR3646_uc021wed.1_5'Flank	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	83					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAGGGCTTCTTCCGGAGGA	0.627000														92			185		0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	89918495	89918495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:89918495G>A	uc003kju.3	+	4	631	c.535G>A	c.(535-537)Gga>Aga	p.G179R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	179					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)		GGGAACCTATGGAATGGTCAT	0.373000														4			3		0	0	0.004672	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47633841	47633841	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:47633841C>T	uc002xtx.4	+	31	4523	c.4371C>T	c.(4369-4371)tcC>tcT	p.S1457S	ARFGEF2_uc010zyf.2_Silent_p.S750S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1457					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAGTAATATCCAATGGAGAGA	0.358000														87			24		0	0	0.003954	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355868	41355868	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:41355868G>A	uc002opl.4	-	1	219	c.198C>T	c.(196-198)ggC>ggT	p.G66G	CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	66					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TGAACACGGGGCCATAGCGCT	0.617000														29			23		0	0	0.003755	0	0
ODZ4	26011	broad.mit.edu	37	11	78443566	78443566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:78443566G>A	uc001ozl.4	-	20	3396	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	978					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTGATGAAAGGTGCCCGCTC	0.542000														12			12		0	0	0.001855	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190292	119190292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119190292C>T	uc003ecm.3	+	2	397	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.	105						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTGCATGTTCCCCTCAAGGTA	0.443000														34			20		0	0	0.001882	0	0
ROS1	6098	broad.mit.edu	37	6	117662562	117662563	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117662562_117662563CC>TT	uc003pxp.1	-	29	5101	c.4902_splice	c.e29+1	p.K1634_splice	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1634	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCACTGTACCTTTAACACAT	0.391000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									41			26		0	0	0.004672	0	0
XKR6	286046	broad.mit.edu	37	8	10755694	10755694	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:10755694A>G	uc003wtk.1	-	2	1721	c.1694T>C	c.(1693-1695)gTg>gCg	p.V565A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	565						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGGTCTCACTTGGAAAAC	0.587000														7			39		0	0	0.002222	0	0
PDHA2	5161	broad.mit.edu	37	4	96761747	96761747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:96761747G>A	uc003htr.4	+	0	509	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	149					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGAAAAGGAGGATCGATGCAT	0.517000														31			25		0	0	0.003954	0	0
C7orf58	79974	broad.mit.edu	37	7	120686957	120686958	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:120686957_120686958GG>AA	uc003vjq.4	+	3	897_898	c.450_451GG>AA	c.(448-453)tgggat>tgAAat	p.150_151WD>*N	C7orf58_uc003vjr.1_Nonsense_Mutation_p.150_151WD>*N|C7orf58_uc003vjs.4_Nonsense_Mutation_p.150_151WD>*N	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	150						endoplasmic reticulum		p.D151G(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TGGGCTCTTGGGATCTGCTCAT	0.332000														96			106		0	0	0.004672	0	0
GABRB1	2560	broad.mit.edu	37	4	47408899	47408899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47408899C>T	uc003gxh.3	+	7	1410	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	GABRB1_uc011bze.2_Nonsense_Mutation_p.Q276*	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	346					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAACAAGACCAGAGTGCCAA	0.373000														22			18		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9069052	9069052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9069052C>T	uc002mkp.3	-	2	18598	c.18394G>A	c.(18394-18396)Gac>Aac	p.D6132N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6134	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						GGTGAAATGTCTGGGGACTTT	0.507000														18			15		0	0	0.004007	0	0
MUC15	143662	broad.mit.edu	37	11	26587249	26587249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:26587249C>T	uc001mqw.3	-	2	511	c.238G>A	c.(238-240)Gca>Aca	p.A80T	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.A53T|MUC15_uc001mqy.3_Missense_Mutation_p.A80T	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	53						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTTAAGTTTGCTTCACTTTCC	0.368000														23			27		0	0	0.003954	0	0
CDH6	1004	broad.mit.edu	37	5	31305390	31305390	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:31305390T>C	uc003jhe.2	+	6	1469	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	CDH6_uc003jhd.2_Missense_Mutation_p.V370A	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	370	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGCCACGGTTAGAATTGTG	0.428000														59			29		0	0	0.002445	0	0
PTH1R	5745	broad.mit.edu	37	3	46943285	46943285	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46943285C>T	uc003cqm.3	+	12	1349	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	PTH1R_uc021wxg.1_Silent_p.V382V	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	382						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCAATATCGTCCGGGTGCTCG	0.667000														24			13		0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	89986685	89986685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:89986685C>T	uc003kju.3	+	30	6874	c.6778C>T	c.(6778-6780)Cga>Tga	p.R2260*	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2260					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)		GCCAATAATTCGAAATTCTGG	0.438000														4			9		0	0	0.004482	0	0
LRRC71	149499	broad.mit.edu	37	1	156902313	156902313	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156902313G>A	uc001fqm.2	+	13	1711	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	LRRC71_uc001fql.2_Silent_p.V299V	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	Homo sapiens leucine rich repeat containing 71 (LRRC71), mRNA.	513										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGGGTCCAGTGGGGCTGCTGT	0.597000														50			20		0	0	0.001216	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470232	6470232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:6470232C>T	uc001iji.1	-	16	2241	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	PRKCQ_uc001ijj.2_Missense_Mutation_p.M686I|PRKCQ_uc009xim.2_Missense_Mutation_p.M623I|PRKCQ_uc009xin.2_Missense_Mutation_p.M650I|PRKCQ_uc010qax.2_Missense_Mutation_p.M561I	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	686					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TATTCTGGTCCATGCTGTTGA	0.468000														127			92		0	0	0.003610	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947699	57947699	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57947699T>A	uc021qjm.1	+	0	783	c.783T>A	c.(781-783)ggT>ggA	p.G261G	OR9Q1_uc001nmj.3_Silent_p.G261G	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACTTGAGAGGTAACTCAGATC	0.517000														44			33		0	0	0.002836	0	0
KCNG2	26251	broad.mit.edu	37	18	77659451	77659451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77659451G>A	uc010xfl.2	+	1	1036	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	346					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCGAGCGCGAGCTGGGCGC	0.711000														8			4		0	0	0.000248	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356335	77356335	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77356335C>T	uc002ffc.4	-	13	2480	c.2061G>A	c.(2059-2061)aaG>aaA	p.K687K	ADAMTS18_uc010chc.1_Silent_p.K275K|ADAMTS18_uc002ffe.1_Silent_p.K383K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	687	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K687N(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTTCTCAGCCTTGCAGTACA	0.388000														43			26		0	0	0.004656	0	0
ACSM5	54988	broad.mit.edu	37	16	20442628	20442628	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20442628C>T	uc002dhe.3	+	9	1440	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	431					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCTTCTGTTTCTTCAATTGCT	0.473000														77			47		0	0	0.003610	0	0
OR52N1	79473	broad.mit.edu	37	11	5809377	5809377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5809377G>A	uc010qzo.2	-	0	670	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	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.	224					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)		ACTGCTTGAAGAATCATAGTG	0.478000														40			21		0	0	0.001523	0	0
NLGN1	22871	broad.mit.edu	37	3	173996672	173996672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:173996672C>T	uc021xhm.1	+	5	1321	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	NLGN1_uc003fio.1_Missense_Mutation_p.A294V|NLGN1_uc010hww.1_Missense_Mutation_p.A334V|NLGN1_uc003fip.1_Missense_Mutation_p.A294V	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	311					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.L334L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CGAGCAATAGCTCAAAGTGGA	0.368000														33			13		0	0	0.002450	0	0
FOXR2	139628	broad.mit.edu	37	X	55650562	55650562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:55650562C>T	uc004duo.3	+	0	730	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	140					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGAGCAGTCTCCTTTACAGAA	0.517000														2			11		0	0	0.000978	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916531	97916531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97916531C>T	uc001klp.3	+	5	1309	c.452C>T	c.(451-453)cCt>cTt	p.P151L	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P151L|ZNF518A_uc001klr.3_Missense_Mutation_p.P151L	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCTTCATATCCTTGTGAAATG	0.363000														116			86		0	0	0.003610	0	0
SFRP4	6424	broad.mit.edu	37	7	37951821	37951821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37951821G>A	uc003tfo.4	-	3	1077	c.691C>T	c.(691-693)Cct>Tct	p.P231S		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	231	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGAGTTCGAGGGATGGGTGAT	0.473000														58			31		0	0	0.002445	0	0
HAL	3034	broad.mit.edu	37	12	96371830	96371830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:96371830G>A	uc001tem.1	-	17	1843	c.1546C>T	c.(1546-1548)Ccc>Tcc	p.P516S	HAL_uc010sux.1_Missense_Mutation_p.P516S|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.P308S	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	516					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACAGACGAGGGATGGCACAGA	0.572000														22			7		0	0	0.003080	0	0
GABRA6	2559	broad.mit.edu	37	5	161117250	161117250	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:161117250G>A	uc003lyu.2	+	6	1055	c.717G>A	c.(715-717)aaG>aaA	p.K239K	GABRA6_uc003lyv.2_Silent_p.K10K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	239					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCAAAGGAAGATGGGCTACT	0.398000										TCGA Ovarian(5;0.080)				15			35		0	0	0.002836	0	0
DNAH10	196385	broad.mit.edu	37	12	124415044	124415044	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124415044C>T	uc001uft.4	+	71	12379	c.12354C>T	c.(12352-12354)ttC>ttT	p.F4118F	DNAH10_uc001ufu.4_Silent_p.F31F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4118					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)		TTGATACTTTCCAGCCATTCC	0.458000														15			9		0	0	0.004482	0	0
UNC45B	146862	broad.mit.edu	37	17	33513464	33513465	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33513464_33513465CC>TT	uc002hja.3	+	19	2779_2780	c.2682_2683CC>TT	c.(2680-2685)atcctg>atTTtg	p.894_895IL>IL	UNC45B_uc002hjb.3_Silent_p.892_893IL>IL|UNC45B_uc002hjc.3_Silent_p.892_893IL>IL|UNC45B_uc010cto.3_Silent_p.813_814IL>IL	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	894					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCTGGAGATCCTGACTGTGGT	0.535000														20			12		0	0	0.004672	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185270	127185270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:127185270G>A	uc004eum.3	-	0	1113	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	306						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGGGAGGAGAGTGGTGCCC	0.502000														5			27		0	0	0.001786	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456604	106456604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:106456604G>A	uc003ymd.3	+	2	319	c.296G>A	c.(295-297)gGa>gAa	p.G99E		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	99					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)			GACTGGGATGGACCAGGTAGG	0.428000														16			7		0	0	0.003080	0	0
DSG1	1828	broad.mit.edu	37	18	28923418	28923419	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28923418_28923419CC>TT	uc002kwp.3	+	11	1905_1906	c.1693_1694CC>TT	c.(1693-1695)cca>TTa	p.P565L	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	565					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAGTGGTCCCATTTTTGATG	0.416000														102			46		0	0	0.004672	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844405	128844405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128844405G>A	uc009zcp.3	-	19	2645	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F	ARHGAP32_uc009zcq.2_Missense_Mutation_p.S842F|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.S533F	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	882					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTCAGTAAAGGAGGATGGCTT	0.438000														60			31		0	0	0.003271	0	0
PRDM1	639	broad.mit.edu	37	6	106543553	106543553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:106543553G>A	uc003prd.2	+	2	589	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	119	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E83K(1)|p.E118G(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTAATAGGTGAAATCTACAC	0.373000			"""D, N, Mis, F, S"""		DLBCL									23			16		0	0	0.004990	0	0
METTL21D	79609	broad.mit.edu	37	14	50576425	50576425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:50576425G>A	uc001wxo.1	-	5	709	c.682C>T	c.(682-684)Cca>Tca	p.P228S	METTL21D_uc001wxn.1_Non-coding_Transcript|METTL21D_uc001wxp.1_Missense_Mutation_p.P193S|METTL21D_uc001wxq.1_Non-coding_Transcript	NM_024558	NP_078834	Q9H867	MT21D_HUMAN	Homo sapiens methyltransferase like 21D (METTL21D), transcript variant 1, mRNA.	228							methyltransferase activity			kidney(1)|lung(1)|urinary_tract(1)	3						CTTCACGATGGAAATTTCTAT	0.338000														5			21		0	0	0.003330	0	0
CPA2	1358	broad.mit.edu	37	7	129909541	129909541	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:129909541G>A	uc003vpq.3	+	2	205	c.186G>A	c.(184-186)ggG>ggA	p.G62G	CPA2_uc011kpc.1_Silent_p.G62G	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	62					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCACCCCAGGGGAGACAGCCC	0.507000														52			13		0	0	0.002450	0	0
CST5	1473	broad.mit.edu	37	20	23858212	23858212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:23858212C>T	uc002wtr.1	-	1	342	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.	92						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GCATGTGGTTCGACCGAACTT	0.532000														50			7		0	0	0.003080	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955396	18955396	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:18955396G>A	uc001mpg.3	-	0	1154	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	312				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAGCTCCAGGATTTCCTCAG	0.562000														41			24		0	0	0.002299	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575517	44575517	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44575517G>A	uc003tlb.3	-	4	1961	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	NPC1L1_uc011kbw.2_Silent_p.I635I|NPC1L1_uc003tlc.3_Silent_p.I635I|NPC1L1_uc003tld.3_Silent_p.I635I	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	635	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGTGGCAAAGATGGGCAGGT	0.582000														37			20		0	0	0.001523	0	0
LRP1B	53353	broad.mit.edu	37	2	141110608	141110608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141110608G>A	uc002tvj.1	-	75	12536	c.11564C>T	c.(11563-11565)tCc>tTc	p.S3855F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3855	EGF-like 9.				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)		ACATTGATGGGAACATGTGCC	0.358000										TSP Lung(27;0.18)				74			46		0	0	0.003610	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105405031C>T	uc003yly.4	-	7	1553	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_uc010mcf.1_Missense_Mutation_p.R45Q	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000														154			52		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316266	30316266	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30316266C>T	uc009xle.2	-	2	2948	c.2811G>A	c.(2809-2811)gtG>gtA	p.V937V	KIAA1462_uc001iux.3_Silent_p.V937V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.V799V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	937								p.R936C(1)		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						CACCTTCTTCCACGCGAAAGC	0.607000														28			24		0	0	0.002780	0	0
HTRA1	5654	broad.mit.edu	37	10	124266289	124266289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124266289C>T	uc001lgj.2	+	3	988	c.860C>T	c.(859-861)tCc>tTc	p.S287F		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	287	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGCCCGTTTTCCCTTCAAAAC	0.617000														26			17		0	0	0.001523	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476763	52476763	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52476763C>T	uc003dea.1	-	2	276	c.276_splice	c.e2+1	p.E92_splice		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	92	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCAGCTCACCTCCCGGGGAT	0.617000														19			15		0	0	0.004007	0	0
SAMD11	148398	broad.mit.edu	37	1	865644	865644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:865644G>A	uc001abw.1	+	2	262	c.182G>A	c.(181-183)aGt>aAt	p.S61N	SAMD11_uc001abv.1_Missense_Mutation_p.S61N	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	61						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGCGACGGGAGTGGCCCCACC	0.642000														6			6		0	0	0.001984	0	0
PRG4	10216	broad.mit.edu	37	1	186274013	186274013	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:186274013A>G	uc001gru.4	+	5	608	c.557A>G	c.(556-558)aAa>aGa	p.K186R	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.K145R|PRG4_uc009wyl.3_Intron|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	186	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAGTCTTCCAAAAATTCAGCT	0.333000														41			41		0	0	0.002852	0	0
MUC16	94025	broad.mit.edu	37	19	9057157	9057157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9057157G>A	uc002mkp.3	-	2	30493	c.30289C>T	c.(30289-30291)Cat>Tat	p.H10097Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10099	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAGGATGAATTTTCTCT	0.468000														52			52		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50976943	50976943	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:50976943C>T	uc002lfe.2	+	22	3919	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	DCC_uc010dpf.2_Silent_p.I736I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1101					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCTTGTGATCATTGTGGTCA	0.527000														30			10		0	0	0.000673	0	0
MOS	4342	broad.mit.edu	37	8	57025559	57025559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:57025559C>T	uc011leb.2	-	0	983	c.983G>A	c.(982-984)aGg>aAg	p.R328K		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	328	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGCGCTCGGCCTCTGCGCCGC	0.607000														16			28		0	0	0.001061	0	0
PLD1	5337	broad.mit.edu	37	3	171392375	171392375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:171392375G>A	uc003fhs.3	-	18	2491	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F	PLD1_uc003fht.3_Missense_Mutation_p.S677F|PLD1_uc003fhu.4_Missense_Mutation_p.S9F|PLD1_uc003fhv.1_Missense_Mutation_p.S40F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	715	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAAAGGATAAGAAAGGGACCG	0.343000														44			24		0	0	0.003954	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370519	38370519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38370519G>A	uc003jlc.2	+	5	1013	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	EGFLAM_uc003jlb.2_Missense_Mutation_p.G223S	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	223	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAATTCCCATGGCCCCAGCCC	0.577000														23			10		0	0	0.000673	0	0
TIGD3	220359	broad.mit.edu	37	11	65124164	65124164	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:65124164C>T	uc021qlj.1	+	0	885	c.885C>T	c.(883-885)ccC>ccT	p.P295P	TIGD3_uc001odo.4_Silent_p.P295P	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	295	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.P295L(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCACGCCTCCCCTGCCCAGCT	0.652000														33			19		0	0	0.002299	0	0
ATP1A2	477	broad.mit.edu	37	1	160109445	160109445	+	Silent	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160109445T>A	uc001fvc.3	+	20	2988	c.2856T>A	c.(2854-2856)atT>atA	p.I952I	ATP1A2_uc001fvd.3_Silent_p.I671I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	952					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGATCCTGATTTTTGGGCTCC	0.557000														35			31		0	0	0.004878	0	0
CD86	942	broad.mit.edu	37	3	121822513	121822513	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121822513G>A	uc003eet.3	+	2	347	c.219G>A	c.(217-219)gaG>gaA	p.E73E	CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Silent_p.E67E|CD86_uc021xcz.1_Silent_p.E67E	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	73	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAGGCAAAGAGAAATTTGACA	0.433000														53			29		0	0	0.001512	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959190	143959190	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:143959190G>A	uc010mey.3	-	3	598	c.591C>T	c.(589-591)ccC>ccT	p.P197P	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.T196S(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGAGTGCGTGGGGGCTCCAT	0.542000									Familial Hyperaldosteronism type I					33			22		0	0	0.001523	0	0
HIP1	3092	broad.mit.edu	37	7	75189160	75189161	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75189160_75189161GG>AA	uc003uds.2	-	13	1295_1296	c.1250_1251CC>TT	c.(1249-1251)gcc>gTT	p.A417V	HIP1_uc011kfz.2_Missense_Mutation_p.A417V	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	417	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.A417T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGCTGCTCGGCCAGATCTGC	0.668000			T	PDGFRB	CMML									5			37		0	0	0.004672	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389737	150389737	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150389737G>A	uc003who.3	+	2	451	c.363G>A	c.(361-363)caG>caA	p.Q121Q		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	121						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATACCTCACAGGACCAGCAGG	0.552000														31			10		0	0	0.000978	0	0
FAM26F	441168	broad.mit.edu	37	6	116784648	116784648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:116784648G>A	uc003pwv.3	+	2	823	c.728G>A	c.(727-729)gGc>gAc	p.G243D		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	243						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TTCTTTGAGGGCTCGCATCCA	0.398000														76			51		0	0	0.003610	0	0
PTPRH	5794	broad.mit.edu	37	19	55718304	55718304	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55718304G>A	uc002qjq.3	-	2	178	c.105C>T	c.(103-105)aaC>aaT	p.N35N	PTPRH_uc010esv.3_Silent_p.N35N|PTPRH_uc002qjs.2_Silent_p.N42N	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	35	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCACTGTCAGGTTCCTCCCTG	0.572000														28			20		0	0	0.002780	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407156	38407156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38407156G>A	uc003jlc.2	+	7	1401	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	EGFLAM_uc003jlb.2_Missense_Mutation_p.C352Y|EGFLAM_uc003jle.2_Missense_Mutation_p.C118Y|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	352	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAAACTCTCTGCTCTGCTGAC	0.562000														26			30		0	0	0.001512	0	0
CCDC60	160777	broad.mit.edu	37	12	119942885	119942885	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:119942885C>T	uc001txe.3	+	6	1125	c.660C>T	c.(658-660)ttC>ttT	p.F220F	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	220										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAAGAAATTCAAAATTCCCA	0.527000														35			26		0	0	0.005443	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290876	141290876	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:141290876G>A	uc022cfj.1	-	0	898	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	MAGEC2_uc004fbu.2_Silent_p.L300L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	300	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCCACAGGAATTCATAA	0.488000										HNSCC(46;0.14)				9			35		0	0	0.004289	0	0
TMEM167A	153339	broad.mit.edu	37	5	82360863	82360863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:82360863G>A	uc003khx.4	-	1	207	c.77C>T	c.(76-78)tCc>tTc	p.S26F	SCARNA18_uc003khz.3_5'Flank	NM_174909	NP_777569	Q8TBQ9	KISHA_HUMAN	Homo sapiens transmembrane protein 167A (TMEM167A), mRNA.	26						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						GGGTGCCAAGGATCGAATATA	0.328000														23			58		0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108778652	108778653	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108778652_108778653CC>TT	uc003dxl.3	-	12	1118	c.1031_splice	c.e12+1	p.R344_splice	MORC1_uc011bhn.2_Splice_Site_p.R344_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	344					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGTGTCTTACCTTTGTTTCTC	0.361000														21			9		0	0	0.004672	0	0
PVALB	5816	broad.mit.edu	37	22	37211239	37211239	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37211239G>A	uc010gwz.3	-	1	132	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_uc003apx.3_Silent_p.V34V	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527000														28			18		0	0	0.000958	0	0
NRAP	4892	broad.mit.edu	37	10	115383364	115383364	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:115383364T>A	uc001lal.3	-	22	2545	c.2381A>T	c.(2380-2382)aAa>aTa	p.K794I	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.K794I|NRAP_uc001lak.3_Missense_Mutation_p.K759I	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	794						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCCTTTTGCTTTCTGGTTTTC	0.502000														54			26		0	0	0.001512	0	0
OR2M5	127059	broad.mit.edu	37	1	248309187	248309187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248309187G>A	uc010pze.2	+	0	738	c.738G>A	c.(736-738)atG>atA	p.M246I		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	246					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)			CTCACCTCATGGTGGTGGGAA	0.493000														135			54		0	0	0.003610	0	0
DSCR6	53820	broad.mit.edu	37	21	38390414	38390414	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:38390414G>A	uc002yvv.3	+	3	690	c.480G>A	c.(478-480)ggG>ggA	p.G160G	DSCR6_uc011aec.2_Missense_Mutation_p.G47D|DSCR6_uc010gnd.3_Missense_Mutation_p.G47D	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	160						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				TCAACCAAGGGCAGCGATCCT	0.627000														23			9		0	0	0.000673	0	0
FAT1	2195	broad.mit.edu	37	4	187628027	187628027	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:187628027G>A	uc003izf.3	-	1	3143	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	FAT1_uc010iso.1_Silent_p.I985I	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	985	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCTGGACGATCCTAACTG	0.468000										HNSCC(5;0.00058)				51			43		0	0	0.001706	0	0
RYR1	6261	broad.mit.edu	37	19	38991498	38991498	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:38991498C>T	uc002oit.3	+	46	7612	c.7482C>T	c.(7480-7482)ttC>ttT	p.F2494F	RYR1_uc002oiu.3_Silent_p.F2494F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2494	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCATCCTTCGTGCCGGACC	0.637000														19			11		0	0	0.001368	0	0
ITGA8	8516	broad.mit.edu	37	10	15647748	15647748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:15647748G>A	uc001ioc.1	-	18	1945	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	ITGA8_uc010qcb.1_Missense_Mutation_p.P634S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	649					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.V648F(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTCAAGTCAGGAACACACAGA	0.388000														29			16		0	0	0.004990	0	0
GPR77	27202	broad.mit.edu	37	19	47844952	47844952	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47844952T>A	uc002pgk.1	+	1	967	c.896T>A	c.(895-897)cTc>cAc	p.L299H	GPR77_uc010ela.1_Missense_Mutation_p.L299H|GPR77_uc021uwn.1_Missense_Mutation_p.L299H	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	299					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		AGGGCTCAACTCCGCCGGTCA	0.632000														31			21		0	0	0.003330	0	0
MUC17	140453	broad.mit.edu	37	7	100677590	100677590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100677590C>T	uc003uxp.1	+	2	2946	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	965	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)					CACTTCATCTCCTACAACTGC	0.522000														467			140		0	0	0.003610	0	0
PRR14	78994	broad.mit.edu	37	16	30664712	30664712	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30664712C>T	uc002dyy.3	+	5	789	c.531C>T	c.(529-531)ttC>ttT	p.F177F	PRR14_uc002dyz.3_Silent_p.F22F|PRR14_uc002dza.3_Silent_p.F177F|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	177	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCCCAACTTCATCATCCCAG	0.532000														36			24		0	0	0.001061	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336624	30336624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30336624C>T	uc009xle.2	-	1	255	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	KIAA1462_uc001iux.3_Missense_Mutation_p.G40S|KIAA1462_uc001iuy.3_Missense_Mutation_p.G40S|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	40								p.A39A(1)		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						AGGCCCTGGCCTGCTCGTGTC	0.637000														26			19		0	0	0.000958	0	0
RASAL1	8437	broad.mit.edu	37	12	113552637	113552637	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113552637C>T	uc001tun.2	-	12	1450	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	RASAL1_uc010syp.2_Silent_p.L383L|RASAL1_uc001tul.3_Silent_p.L383L|RASAL1_uc001tum.2_Silent_p.L383L|RASAL1_uc010syq.2_Silent_p.L383L|RASAL1_uc001tuo.4_Silent_p.L383L|RASAL1_uc010syr.2_Silent_p.L383L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	383	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGCAGGGATCCAGCTCCATGT	0.637000														146			64		0	0	0.003610	0	0
AGBL2	79841	broad.mit.edu	37	11	47690428	47690428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47690428C>T	uc001ngg.3	-	14	2481	c.2179G>A	c.(2179-2181)Ggt>Agt	p.G727S	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.G689S|AGBL2_uc001ngh.1_3'UTR	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	727					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACAGGAAGACCATCTGAGAGA	0.398000														85			42		0	0	0.003610	0	0
LY86	9450	broad.mit.edu	37	6	6589070	6589070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:6589070G>A	uc003mwy.1	+	0	137	c.103G>A	c.(103-105)Gac>Aac	p.D35N	LY86-AS1_uc003mww.4_Intron|LY86-AS1_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	35					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					GGTCTGTAGCGACAGCGGCTT	0.572000														34			20		0	0	0.003330	0	0
TECTA	7007	broad.mit.edu	37	11	121060560	121060560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121060560C>T	uc010rzo.2	+	21	6338	c.6338C>T	c.(6337-6339)aCc>aTc	p.T2113I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2113					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTAACAGGAACCCTGCAGGAG	0.572000														27			18		0	0	0.001523	0	0
PSG3	5671	broad.mit.edu	37	19	43382358	43382358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43382358G>A	uc002ovd.1	-	1	275	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S46F|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.S46F|PSG3_uc002ova.2_Missense_Mutation_p.S46F|PSG3_uc002ouz.2_Missense_Mutation_p.S46F|PSG3_uc002ovb.3_Missense_Mutation_p.S46F	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	46	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.V45V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTCCCCTCGGAAACTTTGGT	0.478000														102			75		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179586739	179586739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179586739C>T	uc021vsy.1	-	74	19144	c.18919G>A	c.(18919-18921)Gat>Aat	p.D6307N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2968N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7234	Ig-like 44.						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)			TCCTTGTTATCTTTTGACCAA	0.418000														134			64		0	0	0.003610	0	0
ROBO1	6091	broad.mit.edu	37	3	78734984	78734984	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:78734984G>A	uc003dqe.2	-	9	1462	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	ROBO1_uc003dqc.2_Silent_p.V382V|ROBO1_uc003dqd.2_Silent_p.V382V|ROBO1_uc003dqb.2_Silent_p.V379V|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.V97V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	418	Ig-like C2-type 4.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGATCGCTGGACATTAGTAA	0.408000														11			17		0	0	0.004007	0	0
MUC2	4583	broad.mit.edu	37	11	1095808	1095808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1095808G>A	uc001lsx.1	+	34	6334	c.6307G>A	c.(6307-6309)Gac>Aac	p.D2103N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4469						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)	CGAGGACCCCGACGGCTGCTG	0.697000														4			6		0	0	0.000443	0	0
ROS1	6098	broad.mit.edu	37	6	117710795	117710795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117710795G>A	uc003pxp.1	-	11	1676	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	493					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGGGGATGCGAGGTAGGATG	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									40			25		0	0	0.004656	0	0
POTEC	388468	broad.mit.edu	37	18	14542981	14542981	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14542981C>T	uc010dln.3	-	0	619	c.165G>A	c.(163-165)aaG>aaA	p.K55K	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	55										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGCATCTTCATAAAGG	0.587000														56			58		0	0	0.003610	0	0
ELP3	55140	broad.mit.edu	37	8	28017869	28017869	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:28017869T>A	uc003xgo.4	+	12	1529	c.1381T>A	c.(1381-1383)Ttc>Atc	p.F461I	ELP3_uc003xgn.4_Missense_Mutation_p.F446I|ELP3_uc011las.2_Missense_Mutation_p.F342I|ELP3_uc011lat.2_Missense_Mutation_p.F342I|ELP3_uc011laq.2_Missense_Mutation_p.F389I|ELP3_uc011lar.2_Missense_Mutation_p.F369I	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	461	N-acetyltransferase.				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)		AGAAGAAACTTTCCGTTTCGA	0.473000														9			33		0	0	0.002836	0	0
PCDH15	65217	broad.mit.edu	37	10	55570336	55570336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55570336C>T	uc021pqw.1	-	34	4887	c.4492G>A	c.(4492-4494)Gaa>Aaa	p.E1498K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1491K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1486K|PCDH15_uc021pqv.1_Silent_p.R1511R|PCDH15_uc010qht.2_Missense_Mutation_p.E1493K|PCDH15_uc021pqx.1_Silent_p.R1509R	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			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)				TCATATTCTTCCTCAGCTTCA	0.393000										HNSCC(58;0.16)				86			71		0	0	0.003610	0	0
TMC1	117531	broad.mit.edu	37	9	75403289	75403289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75403289G>A	uc004aiz.1	+	13	1459	c.919G>A	c.(919-921)Gat>Aat	p.D307N	TMC1_uc010moz.1_Missense_Mutation_p.D265N|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.D161N|TMC1_uc010mpa.1_Missense_Mutation_p.D161N	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	307					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGAGGTGGAGATGACAACAC	0.403000														8			43		0	0	0.002522	0	0
FAM81B	153643	broad.mit.edu	37	5	94749811	94749811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:94749811G>A	uc003kla.1	+	3	500	c.454G>A	c.(454-456)Gag>Aag	p.E152K	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	152										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTTTCGAAAAGAGGAATCGCT	0.488000														7			21		0	0	0.002299	0	0
NEB	4703	broad.mit.edu	37	2	152421650	152421650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152421650C>T	uc021vrb.1	-	87	13305	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K	NEB_uc002txr.3_Missense_Mutation_p.E892K|NEB_uc002txu.3_Missense_Mutation_p.E6127K|NEB_uc021vrc.1_Missense_Mutation_p.E6127K|NEB_uc010fnx.3_Missense_Mutation_p.E4414K|NEB_uc021vrd.1_Missense_Mutation_p.E4426K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4426					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAAATGTTTCTTTATATTTT	0.299000														12			6		0	0	0.001984	0	0
DPYS	1807	broad.mit.edu	37	8	105459626	105459626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105459626C>T	uc003yly.4	-	2	658	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	177					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGAAGGCTTCGTACAGCTCC	0.428000														36			49		0	0	0.003610	0	0
BRD4	23476	broad.mit.edu	37	19	15375451	15375451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15375451G>A	uc002nar.3	-	5	1198	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	BRD4_uc002nas.3_Missense_Mutation_p.R326W|BRD4_uc002nat.3_Missense_Mutation_p.R326W|BRD4_uc002nau.4_Missense_Mutation_p.R326W	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	326					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTCACAGGCCGGCTGCTCTCC	0.652000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			14		0	0	0.003163	0	0
OR10W1	81341	broad.mit.edu	37	11	58035120	58035120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58035120G>A	uc001nmq.1	-	0	613	c.211C>T	c.(211-213)Cat>Tat	p.H71Y		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H71N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCAGGATATGGGGCACCACC	0.512000														26			26		0	0	0.001061	0	0
SORL1	6653	broad.mit.edu	37	11	121490577	121490578	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121490577_121490578CC>TT	uc001pxx.3	+	42	5969_5970	c.5840_5841CC>TT	c.(5839-5841)tcc>tTT	p.S1947F	SORL1_uc010rzp.1_Missense_Mutation_p.S793F|SORL1_uc010rzq.1_Missense_Mutation_p.S562F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1947	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S1947S(4)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCAAAACCTCCGTGGTCATCA	0.559000														47			27		0	0	0.004672	0	0
CD96	10225	broad.mit.edu	37	3	111304183	111304183	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:111304183C>T	uc003dxw.3	+	5	983	c.813C>T	c.(811-813)atC>atT	p.I271I	CD96_uc003dxv.3_Silent_p.I255I|CD96_uc003dxx.3_Silent_p.I255I|CD96_uc010hpy.1_Silent_p.I255I	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	271	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AACCAGAAATCCCTGTGATTG	0.403000									Opitz Trigonocephaly syndrome					18			9		0	0	0.000978	0	0
XKR7	343702	broad.mit.edu	37	20	30556335	30556335	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30556335C>A	uc002wxe.3	+	0	531	c.357C>A	c.(355-357)ccC>ccA	p.P119P		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	119						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCGGAGCCCGCAGGGTCCC	0.647000														10			7		0.00198382	0.00412773	0.001984	1	0
ASPRV1	151516	broad.mit.edu	37	2	70188221	70188221	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:70188221C>T	uc002sfz.4	-	0	1177	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	200					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGCCAATCTTCCCCTTGAGAT	0.602000														46			29		0	0	0.003271	0	0
ZNF423	23090	broad.mit.edu	37	16	49764731	49764731	+	Silent	SNP	G	A	A	rs138148545		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:49764731G>A	uc002efs.3	-	3	526	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	76					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F76V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCAGAGACTCGAAGTCCTGCT	0.527000														59			47		0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126223	121126223	+	Silent	SNP	G	A	A	rs145354820		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121126223G>A	uc003eec.4	+	23	2933	c.2793G>A	c.(2791-2793)agG>agA	p.R931R	STXBP5L_uc011bji.2_Silent_p.R907R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	931					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R931R(2)|p.R930G(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTGGAGAAGGAAAGTGGTAA	0.398000														36			19		0	0	0.000958	0	0
C12orf50	160419	broad.mit.edu	37	12	88379643	88379643	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:88379643T>C	uc001tam.1	-	10	1278	c.1110A>G	c.(1108-1110)aaA>aaG	p.K370K	C12orf50_uc001tan.3_Silent_p.K385K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	370										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAGGTTGGGTTTGGGTTCCC	0.493000														43			23		0	0	0.003954	0	0
IL2RA	3559	broad.mit.edu	37	10	6067912	6067912	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:6067912C>T	uc001iiz.2	-	1	360	c.141G>A	c.(139-141)ttG>ttA	p.L47L	IL2RA_uc009xih.2_Silent_p.L47L|IL2RA_uc001ija.1_Silent_p.L9L	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	47	Sushi 1.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATTCACAGTTCAACATGGTTC	0.488000														41			25		0	0	0.004656	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21375290	21375290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21375290G>A	uc001req.4	+	12	1843	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	580					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGTTATACGAGCACTAGGT	0.229000														37			36		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179599324	179599324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179599324G>A	uc021vsy.1	-	48	11720	c.11495C>T	c.(11494-11496)tCt>tTt	p.S3832F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S493F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4759							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)			TTTGATGAAAGAAGGAGGTTC	0.383000														101			69		0	0	0.003610	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376560	49376560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49376560C>T	uc002pky.4	+	1	339	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	24	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTCCTGTCCCCAGTGATGGG	0.627000														12			14		0	0	0.001855	0	0
ZNF462	58499	broad.mit.edu	37	9	109701389	109701389	+	Splice_Site	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:109701389G>T	uc004bcz.3	+	7	6716	c.6427_splice	c.e7+1	p.D2143_splice	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Splice_Site_p.D2052_splice|ZNF462_uc004bda.3_Splice_Site_p.D2051_splice|ZNF462_uc011lvz.2_Splice_Site_p.D100_splice|ZNF462_uc004bdb.1_Splice_Site_p.D51_splice	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2143					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GACTCCAATGGTAAAAATGGG	0.493000														11			70		1.49552e-23	3.15363e-23	0.003610	1	0
PID1	55022	broad.mit.edu	37	2	229890678	229890678	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:229890678G>A	uc002vpr.4	-	2	461	c.423C>T	c.(421-423)ttC>ttT	p.F141F	PID1_uc002vps.4_Silent_p.F139F|PID1_uc002vpt.4_Silent_p.F108F|PID1_uc002vpu.4_Silent_p.F59F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	141	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCCAAACTTGGAATGGCCGGA	0.582000														35			25		0	0	0.004656	0	0
KCNU1	157855	broad.mit.edu	37	8	36776396	36776396	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:36776396C>T	uc010lvw.3	+	22	2664	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	859						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCGAAAAGTCCCTATCCTTA	0.363000														14			81		0	0	0.003610	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887052	27887052	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:27887052C>G	uc002rlk.4	+	0	715	c.433C>G	c.(433-435)Cct>Gct	p.P145A	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	145						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)					GGTTTCTTCCCCTGGCGGTCC	0.652000														24			12		0	0	0.002450	0	0
FMNL2	114793	broad.mit.edu	37	2	153484914	153484914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:153484914G>A	uc002tye.3	+	17	2634	c.2267G>A	c.(2266-2268)aGg>aAg	p.R756K	FMNL2_uc010fob.3_Missense_Mutation_p.R212K|FMNL2_uc002tyf.3_Missense_Mutation_p.R205K	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	756	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGCGGGAAAGGAAGCCTCTG	0.468000														54			39		0	0	0.001485	0	0
FNBP1L	54874	broad.mit.edu	37	1	93987662	93987662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:93987662C>T	uc010otk.2	+	2	315	c.164C>T	c.(163-165)cCc>cTc	p.P55L	FNBP1L_uc001dpv.3_Missense_Mutation_p.P55L|FNBP1L_uc001dpw.3_Missense_Mutation_p.P55L	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	55	FCH.|Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AAGTACTGCCCCAAACGTTCA	0.244000														9			5		0	0	0.001984	0	0
NLRP7	199713	broad.mit.edu	37	19	55451437	55451437	+	Silent	SNP	G	A	A	rs140816006		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55451437G>A	uc002qih.4	-	3	826	c.750C>T	c.(748-750)ttC>ttT	p.F250F	NLRP7_uc010esk.3_Silent_p.F250F|NLRP7_uc002qig.4_Silent_p.F250F|NLRP7_uc002qii.4_Silent_p.F250F|NLRP7_uc010esl.3_Silent_p.F278F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	250	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCGACCACGAACAGGATTC	0.577000														70			40		0	0	0.001706	0	0
OR5T3	390154	broad.mit.edu	37	11	56020179	56020179	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56020179C>T	uc010rjd.2	+	0	504	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCATGTCACCCAGAGTCTATG	0.433000														79			48		0	0	0.003610	0	0
KLHL1	57626	broad.mit.edu	37	13	70281891	70281891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:70281891G>A	uc001vip.3	-	9	2847	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	KLHL1_uc010thm.2_Missense_Mutation_p.P624S	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	685					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.P685P(1)		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)		ATACTCAAAGGAGCCACCATG	0.388000														11			9		0	0	0.000673	0	0
DENND5A	23258	broad.mit.edu	37	11	9161242	9161242	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:9161242G>A	uc001mhl.3	-	22	4097	c.3840C>T	c.(3838-3840)tcC>tcT	p.S1280S	DENND5A_uc001mhk.3_Silent_p.S623S|DENND5A_uc010rbw.2_3'UTR	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1280	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTGACAAGGGACGTCTCCA	0.507000														10			8		0	0	0.004482	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297869	139297869	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:139297869G>A	uc003etj.3	-	1	178	c.138C>T	c.(136-138)atC>atT	p.I46I	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.I9I|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	46					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TGACAGGAGAGATGATACCCT	0.562000														17			5		0	0	0.001168	0	0
ZNF675	171392	broad.mit.edu	37	19	23837429	23837429	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:23837429T>G	uc002nri.3	-	3	488	c.306A>C	c.(304-306)agA>agC	p.R102S		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	102					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTTTCATATCTTCTCAGTG	0.323000														45			37		0	0	0.003755	0	0
CD5L	922	broad.mit.edu	37	1	157805786	157805787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157805786_157805787CC>TT	uc001frk.4	-	2	357_358	c.214_215GG>AA	c.(214-216)gga>AAa	p.G72K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	72	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTAGGGGTTCCGCTGGCAGCT	0.545000														87			90		0	0	0.004672	0	0
KCNA4	3739	broad.mit.edu	37	11	30033653	30033653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30033653C>T	uc021qfi.1	-	0	573	c.573G>A	c.(571-573)atG>atA	p.M191I	KCNA4_uc001msk.3_Missense_Mutation_p.M191I	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	191						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCAGAGTTTTCATTTGGGTCT	0.493000														25			17		0	0	0.000743	0	0
LILRB4	11006	broad.mit.edu	37	19	55177322	55177322	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55177322C>A	uc002qgp.3	+	6	1176	c.814C>A	c.(814-816)Ctc>Atc	p.L272I	LILRB4_uc002qgq.3_Missense_Mutation_p.L272I|LILRB4_uc010ert.3_Missense_Mutation_p.L313I|LILRB4_uc010eru.3_Missense_Mutation_p.L301I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	272						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAtcctgcttctctccctcct	0.552000														9			13		0.000151284	0.000315858	0.001855	1	0
MTUS2	23281	broad.mit.edu	37	13	29599079	29599079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:29599079C>T	uc001usl.4	+	0	332	c.274C>T	c.(274-276)Cag>Tag	p.Q92*		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	82						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCACCAACTTCAGGGCTTTGG	0.453000														35			10		0	0	0.000673	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751814	26751814	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:26751814G>A	uc003cdp.3	+	1	1240	c.651G>A	c.(649-651)gtG>gtA	p.V217V	LRRC3B_uc003cdq.3_Silent_p.V217V|LRRC3B_uc021wuj.1_Silent_p.V217V	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	217						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCACTATGGTGATCTCATATG	0.468000														17			10		0	0	0.000673	0	0
PTPRT	11122	broad.mit.edu	37	20	40827881	40827881	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:40827881G>A	uc002xkg.3	-	16	2675	c.2491_splice	c.e16+1	p.T831_splice	PTPRT_uc010ggj.3_Splice_Site_p.T850_splice|PTPRT_uc010ggi.3_Splice_Site_p.T34_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	831					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTACTTACTGAATCCGTTGA	0.562000														353			122		0	0	0.003610	0	0
ABCB5	340273	broad.mit.edu	37	7	20725318	20725319	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:20725318_20725319GG>AA	uc010kuh.3	+	16	2107	c.1870_splice	c.e16-1	p.D624_splice	ABCB5_uc003suw.4_Splice_Site_p.D179_splice	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	179	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTCCTGTAAGGATATTAAAAA	0.342000														20			12		0	0	0.004672	0	0
ALPK2	115701	broad.mit.edu	37	18	56202134	56202135	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:56202134_56202135TC>GT	uc002lhj.4	-	4	5498_5499	c.5284_5285GA>AC	c.(5284-5286)gaa>ACa	p.E1762T	ALPK2_uc002lhk.1_Missense_Mutation_p.E1093T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1762							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAATGATGTTTCGAGTTTGGGC	0.401000														51			40		0	0	0.004672	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278668	130278669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:130278668_130278669CC>TT	uc001qgg.4	-	6	2275_2276	c.1917_1918GG>AA	c.(1915-1920)gaggcc>gaAAcc	p.A640T	ADAMTS8_uc001qgf.3_Missense_Mutation_p.A121T	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	640	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCACCTTGGCCTCGAACACTT	0.639000														32			22		0	0	0.004672	0	0
THBS1	7057	broad.mit.edu	37	15	39874122	39874122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39874122C>T	uc001zkh.3	+	1	243	c.64C>T	c.(64-66)Cca>Tca	p.P22S		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	22					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAACCGCATTCCAGGTGAGTT	0.602000											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			15		0	0	0.004007	0	0
RGL4	266747	broad.mit.edu	37	22	24037175	24037175	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:24037175A>T	uc002zxo.3	+	5	2312	c.1055A>T	c.(1054-1056)gAc>gTc	p.D352V	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Non-coding_Transcript|GUSBP11_uc002zxm.3_Non-coding_Transcript|RGL4_uc002zxn.3_Missense_Mutation_p.D352V|RGL4_uc002zxp.1_Missense_Mutation_p.D216V|RGL4_uc002zxq.3_Missense_Mutation_p.D216V			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	352	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCAAAAAAGACACTGCAGTG	0.453000														26			25		0	0	0.001061	0	0
P2RX2	22953	broad.mit.edu	37	12	133196666	133196666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:133196666G>A	uc001ukk.1	+	4	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N	P2RX2_uc001uki.1_Missense_Mutation_p.D180N|P2RX2_uc001ukj.1_Missense_Mutation_p.D180N|P2RX2_uc001ukl.1_Missense_Mutation_p.D156N|P2RX2_uc001ukm.1_Missense_Mutation_p.D108N|P2RX2_uc001ukn.1_Missense_Mutation_p.D88N|P2RX2_uc009zyt.1_Missense_Mutation_p.D180N|P2RX2_uc001uko.1_Missense_Mutation_p.R144K	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	180					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCCGGTGGAAGATGGGGCCTC	0.682000														4			7		0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617514	77617514	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77617514G>A	uc003yau.2	+	1	1578	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	ZFHX4_uc003yat.1_Silent_p.G397G|ZFHX4_uc003yaw.1_Silent_p.G397G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	397						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)			AGCCGCTGGGGATTACCCAAA	0.532000										HNSCC(33;0.089)				28			20		0	0	0.001523	0	0
GZMA	3001	broad.mit.edu	37	5	54403740	54403740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:54403740G>A	uc003jpm.3	+	2	371	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	112	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGCCACACGCGAAGGTGACCT	0.438000														9			29		0	0	0.002836	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:69058566C>T	uc003xxv.1	+	33	4237	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1404					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						GTTTAAAATTCATCCTGTTCT	0.318000														35			41		0	0	0.001706	0	0
CELSR3	1951	broad.mit.edu	37	3	48667391	48667391	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48667391G>A	uc003cuf.1	-	48	11658	c.11658C>T	c.(11656-11658)ttC>ttT	p.F3886F	CELSR3_uc003cug.3_Silent_p.F460F|CELSR3_uc011bbp.2_Silent_p.F445F|CELSR3_uc010hke.3_Silent_p.F332F|CELSR3_uc003cuk.3_Silent_p.F374F|CELSR3_uc003cuh.3_Silent_p.F481F|CELSR3_uc003cui.3_Silent_p.F481F|CELSR3_uc003cuj.3_Silent_p.F481F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					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)		TGGTGGCCGTGAAGGTCACCA	0.632000														29			11		0	0	0.000978	0	0
BGN	633	broad.mit.edu	37	X	152771449	152771449	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:152771449C>T	uc004fhr.2	+	3	716	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	160						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACCCAGCTCCCTGGTGGAGC	0.607000														2			11		0	0	0.001368	0	0
CFTR	1080	broad.mit.edu	37	7	117242901	117242901	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:117242901C>T	uc003vjd.3	+	15	2773	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	CFTR_uc011knq.2_Silent_p.L287L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	881	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGGTTGTGCTGTGGCTCCT	0.368000									Cystic Fibrosis					90			140		0	0	0.003610	0	0
ADH4	127	broad.mit.edu	37	4	100047751	100047751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100047751C>T	uc003hun.3	-	7	1188	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.G390E	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	371					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GTACCTTTTTCCTTGGTTCAT	0.343000														53			27		0	0	0.002096	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237407	84237407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:84237407G>A	uc002bjw.3	+	3	509	c.314G>A	c.(313-315)gGg>gAg	p.G105E	SH3GL3_uc010uot.1_Missense_Mutation_p.G105E|SH3GL3_uc002bjx.3_Missense_Mutation_p.G36E|SH3GL3_uc002bju.3_Missense_Mutation_p.G113E|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	105	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAGGAGCTCGGGGAAGACTCC	0.517000														21			14		0	0	0.003163	0	0
NOS1	4842	broad.mit.edu	37	12	117660561	117660561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117660561C>T	uc001twn.2	-	26	4747	c.4036G>A	c.(4036-4038)Gag>Aag	p.E1346K	NOS1_uc021ren.1_Missense_Mutation_p.E976K|NOS1_uc021reo.1_Missense_Mutation_p.E976K|NOS1_uc001twm.2_Missense_Mutation_p.E1312K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1312					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)	GTGTACAGCTCTCTGAAGACC	0.587000														52			31		0	0	0.001786	0	0
TLN2	83660	broad.mit.edu	37	15	63128178	63128178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:63128178C>T	uc002alb.4	+	53	7280	c.7280C>T	c.(7279-7281)tCa>tTa	p.S2427L	TLN2_uc002alc.4_Missense_Mutation_p.S820L|TLN2_uc010uic.2_Missense_Mutation_p.S28L|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2427	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGCTCATCTCATCTGCCAAG	0.642000														14			11		0	0	0.000673	0	0
ATP5J	522	broad.mit.edu	37	21	27097615	27097615	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:27097615G>A	uc002ylv.3	-	2	934	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	ATP5J_uc002ylw.3_Silent_p.L71L|ATP5J_uc002yls.3_Silent_p.L71L|ATP5J_uc002ylt.3_Silent_p.L71L|ATP5J_uc002ylu.3_Silent_p.L71L	NM_001003701	NP_001676	P18859	ATP5J_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 (ATP5J), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	71					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						TCCCTCTCCAGCTCTTGCTGA	0.368000														18			18		0	0	0.000743	0	0
RAI1	10743	broad.mit.edu	37	17	17697975	17697975	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:17697975C>A	uc002grm.3	+	2	2182	c.1713C>A	c.(1711-1713)tcC>tcA	p.S571S	RAI1_uc002grn.1_Silent_p.S571S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	571						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTGACGACTCCTTCCAGAGCC	0.632000														14			72		3.71121e-27	7.83225e-27	0.003610	1	0
OTOA	146183	broad.mit.edu	37	16	21747593	21747593	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21747593C>T	uc002djh.3	+	20	2314	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.I692I|OTOA_uc002dji.3_Silent_p.I447I|OTOA_uc010vbk.2_Silent_p.I419I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	785					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTCCTGAGATCCTTCTGCAAG	0.418000														25			23		0	0	0.004656	0	0
OR6S1	341799	broad.mit.edu	37	14	21109685	21109685	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21109685G>A	uc001vxv.1	-	0	166	c.166C>T	c.(166-168)Cga>Tga	p.R56*		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GTCTGTAGTCGAGTATCAGCC	0.453000														32			24		0	0	0.002780	0	0
DNAJC12	56521	broad.mit.edu	37	10	69571283	69571283	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:69571283G>A	uc001jnb.3	-	3	465	c.297_splice	c.e3+1	p.T99_splice	DNAJC12_uc001jnc.3_Missense_Mutation_p.T99M	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	99					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GAAACCCACCGTCTTCACTGA	0.517000														53			39		0	0	0.001951	0	0
EVPL	2125	broad.mit.edu	37	17	74003456	74003456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74003456G>A	uc010wss.1	-	21	6124	c.5896C>T	c.(5896-5898)Ctc>Ttc	p.L1966F	EVPL_uc002jqi.2_Missense_Mutation_p.L1944F|EVPL_uc010wst.1_Missense_Mutation_p.L1414F	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1944	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCGATGAGCCCCCCGGTC	0.672000														5			20		0	0	0.002299	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057907	63057907	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63057907C>T	uc009yor.3	+	0	478	c.270C>T	c.(268-270)cgC>cgT	p.R90R	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.R38R	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	90						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGTCGTCGCTTTGTCCATC	0.493000														45			23		0	0	0.003330	0	0
MYH2	4620	broad.mit.edu	37	17	10428095	10428095	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10428095C>T	uc010coi.3	-	33	5078	c.4950G>A	c.(4948-4950)agG>agA	p.R1650R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1650R|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1650					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						CTTGGGTGTTCCTGTAGTTCC	0.502000														13			63		0	0	0.003610	0	0
OR5H2	79310	broad.mit.edu	37	3	98002107	98002107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:98002107G>A	uc003dsj.1	+	0	376	c.376G>A	c.(376-378)Gat>Aat	p.D126N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATGGCATATGATCGCTATGT	0.373000														44			34		0	0	0.003271	0	0
NLRP10	338322	broad.mit.edu	37	11	7981729	7981729	+	Missense_Mutation	SNP	G	A	A	rs77351963		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7981729G>A	uc001mfv.1	-	1	1447	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	477	NACHT.						ATP binding	p.S477C(2)		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)		CACCAGGTAAGACATGGCATG	0.517000														44			34		0	0	0.003755	0	0
SRD5A2	6716	broad.mit.edu	37	2	31756538	31756538	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:31756538G>A	uc002rnw.1	-	3	518	c.447C>T	c.(445-447)gtC>gtT	p.V149V		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.	150					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)	TAAATAAGAAGACACCTTGAC	0.373000														11			6		0	0	0.003080	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346064	147346064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:147346064G>A	uc002twf.4	+	0	1440	c.524G>A	c.(523-525)gGt>gAt	p.G175D						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GCAATGAACGGTAAAATTGTG	0.453000														7			4		0	0	0.000248	0	0
ATP8B4	79895	broad.mit.edu	37	15	50336873	50336873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50336873G>A	uc001zxu.3	-	4	360	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	73					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S73F(2)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGTCAAGGAGGAAATTTCTGG	0.353000														14			13		0	0	0.002450	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576650	4576650	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:4576650C>T	uc003zij.2	+	9	1333	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	360					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCGTGTTACCCGTTGGTGCAA	0.483000														26			41		0	0	0.001951	0	0
GLIS1	148979	broad.mit.edu	37	1	53980412	53980412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:53980412G>A	uc001cvr.1	-	6	1811	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	415					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						CAGGAGGCCCGATGCAAGTCC	0.612000														24			19		0	0	0.001216	0	0
CYP3A7	1551	broad.mit.edu	37	7	99273833	99273833	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99273833T>C	uc003urq.3	-	2	174	c.72_splice	c.e2-1	p.L24_splice	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Splice_Site_p.V14_splice|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Splice_Site_p.L24_splice	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	24					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTCCCATATCTACAAAGTGAA	0.463000														25			32		0	0	0.002445	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044163	75044163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75044163C>T	uc002ayr.1	+	3	1074	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	337					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GTGACCAAGCCTGAGATACAG	0.512000														37			24		0	0	0.004656	0	0
RBBP8	5932	broad.mit.edu	37	18	20570913	20570914	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:20570913_20570914CC>TT	uc002kua.3	+	9	944_945	c.821_822CC>TT	c.(820-822)ccc>cTT	p.P274L	RBBP8_uc002ktw.3_Missense_Mutation_p.P274L|RBBP8_uc002kty.3_Missense_Mutation_p.P274L|RBBP8_uc002ktz.3_Missense_Mutation_p.P274L|RBBP8_uc002ktx.1_Missense_Mutation_p.P274L	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	274					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACTCAAGGTCCCATGAGCCCCC	0.381000								Homologous recombination						9			6		0	0	0.004672	0	0
MEFV	4210	broad.mit.edu	37	16	3299603	3299603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3299603C>T	uc002cun.1	-	2	1128	c.1088G>A	c.(1087-1089)aGc>aAc	p.S363N	MEFV_uc021tbw.1_Missense_Mutation_p.S152N|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	363					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)	GCTTCCCGGGCTCTTCCTTTC	0.647000														13			17		0	0	0.004990	0	0
SLC35A3	23443	broad.mit.edu	37	1	100464871	100464871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:100464871C>T	uc001dsr.1	+	2	469	c.368C>T	c.(367-369)cCt>cTt	p.P123L	SLC35A3_uc001dsp.1_Missense_Mutation_p.P81L|SLC35A3_uc009wdy.1_Missense_Mutation_p.P81L|SLC35A3_uc001dss.1_5'UTR	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	Homo sapiens solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3), mRNA.	81					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|sugar:hydrogen symporter activity	p.L122P(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CTTAATAAACCTATGGAAACA	0.313000														58			29		0	0	0.001271	0	0
NDN	4692	broad.mit.edu	37	15	23931560	23931560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:23931560C>T	uc001ywk.3	-	0	891	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	269	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.E269K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTGGTGATTTCGCGGCTGGCC	0.572000									Prader-Willi syndrome					22			14		0	0	0.001855	0	0
FGD2	221472	broad.mit.edu	37	6	36976648	36976648	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36976648A>G	uc010jwp.1	+	1	278	c.107A>G	c.(106-108)gAc>gGc	p.D36G	FGD2_uc003onf.3_Missense_Mutation_p.D36G|FGD2_uc011dtu.1_Missense_Mutation_p.D36G|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	36					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGGCTAGAGGACGTGCATCAC	0.632000														24			15		0	0	0.004007	0	0
COBLL1	22837	broad.mit.edu	37	2	165550945	165550945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165550945G>A	uc002ucp.3	-	11	3293	c.3071C>T	c.(3070-3072)tCa>tTa	p.S1024L	COBLL1_uc002ucq.3_Missense_Mutation_p.S986L|COBLL1_uc010zcw.2_Missense_Mutation_p.S1091L|COBLL1_uc010zcx.2_Missense_Mutation_p.S1032L|COBLL1_uc002ucn.3_Missense_Mutation_p.S452L|COBLL1_uc002uco.3_Missense_Mutation_p.S755L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1062										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGCAAACGGTGAAGGACCAGA	0.478000														28			20		0	0	0.001216	0	0
COL14A1	7373	broad.mit.edu	37	8	121228714	121228714	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121228714G>A	uc003yox.3	+	13	1987	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G	COL14A1_uc003yoy.3_Silent_p.G252G|COL14A1_uc010mde.1_Silent_p.G252G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	574	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGCAGATGGGACTGAAATCA	0.393000														32			55		0	0	0.003610	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64532454	64532454	+	Silent	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:64532454T>G	uc003dmg.3	-	31	5076	c.5044A>C	c.(5044-5046)Aga>Cga	p.R1682R	ADAMTS9_uc011bfo.2_Silent_p.R1654R|ADAMTS9_uc011bfp.1_Silent_p.R593R	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1682	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCCAACTCTCCAGGTGGCC	0.552000														137			74		0	0	0.003610	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704127	131704127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:131704127C>T	uc002tsa.1	+	3	865	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ARHGEF4_uc010fmw.1_Missense_Mutation_p.P762S|ARHGEF4_uc002tsb.1_Missense_Mutation_p.P116S|ARHGEF4_uc010fmx.1_Missense_Mutation_p.P116S|ARHGEF4_uc002trz.1_Missense_Mutation_p.P762S	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	116	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TTTGAATCTCCCTAGAAGAAG	0.522000														48			27		0	0	0.004656	0	0
KIAA0182	23199	broad.mit.edu	37	16	85682309	85682309	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:85682309C>T	uc002fix.3	+	2	452	c.378C>T	c.(376-378)atC>atT	p.I126I	KIAA0182_uc002fiw.3_Silent_p.I22I|KIAA0182_uc002fiy.3_Silent_p.I53I	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	126							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						TGGTGACCATCGCTCCAACCA	0.677000														22			17		0	0	0.001216	0	0
CSF1R	1436	broad.mit.edu	37	5	149453025	149453025	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:149453025C>T	uc003lrl.3	-	5	1116	c.921G>A	c.(919-921)caG>caA	p.Q307Q	CSF1R_uc011dcd.2_Silent_p.Q159Q|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.Q307Q|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	307	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGATGAGGTTCTGCTCAGAGC	0.517000														17			30		0	0	0.001786	0	0
UCP3	7352	broad.mit.edu	37	11	73716890	73716890	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:73716890G>A	uc001our.3	-	3	781	c.426C>T	c.(424-426)gtC>gtT	p.V142V	UCP3_uc001ous.2_Silent_p.V142V	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.	142					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)					CCTGAAATCGGACCTTCACCA	0.607000														27			10		0	0	0.000673	0	0
WFDC13	164237	broad.mit.edu	37	20	44334534	44334534	+	Missense_Mutation	SNP	C	T	T	rs143587653		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44334534C>T	uc002xpd.3	+	2	380	c.272C>T	c.(271-273)cCt>cTt	p.P91L	WFDC10B_uc002xpb.3_5'Flank|WFDC10B_uc002xpc.3_5'Flank	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA.	91						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				GTCATCATGCCTGCCAACTGA	0.363000														31			42		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13786458	13786458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13786458C>T	uc003jfd.2	-	51	8692	c.8650G>A	c.(8650-8652)Gaa>Aaa	p.E2884K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2884					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)					TCAGATGTTTCACCTTTGGTG	0.358000									Kartagener syndrome					25			32		0	0	0.003755	0	0
ST18	9705	broad.mit.edu	37	8	53045668	53045668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:53045668C>T	uc003xqz.2	-	15	2549	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D	ST18_uc011ldq.1_Missense_Mutation_p.G445D|ST18_uc011ldr.1_Missense_Mutation_p.G763D|ST18_uc011lds.1_Missense_Mutation_p.G703D|ST18_uc003xra.2_Missense_Mutation_p.G798D	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	798						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTGACACCACCTTTCCTTGC	0.468000														53			61		0	0	0.003610	0	0
PDYN	5173	broad.mit.edu	37	20	1961313	1961313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:1961313C>T	uc010gaj.3	-	2	663	c.421G>A	c.(421-423)Gca>Aca	p.A141T	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.A141T|PDYN_uc021vzt.1_Missense_Mutation_p.A141T|PDYN_uc021vzu.1_Missense_Mutation_p.A141T|PDYN_uc002wfv.3_Missense_Mutation_p.A141T	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	141					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.A141V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGACTCTGCTCCCTCCCTA	0.547000														18			29		0	0	0.002445	0	0
TRPM5	29850	broad.mit.edu	37	11	2433995	2433995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:2433995C>T	uc010qxl.2	-	14	2353	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	TRPM5_uc001lwm.4_Missense_Mutation_p.E782K|TRPM5_uc009ydn.3_Missense_Mutation_p.E784K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	782						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGCCGGATTTCCTCCAGCACC	0.652000														14			116		0	0	0.003610	0	0
GAB4	128954	broad.mit.edu	37	22	17447179	17447179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:17447179G>A	uc002zlw.3	-	5	1207	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	367										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGCAGGGTAGGGGAGCCTGGG	0.577000														16			12		0	0	0.001368	0	0
NLRP8	126205	broad.mit.edu	37	19	56467279	56467279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56467279G>A	uc002qmh.3	+	2	1926	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	NLRP8_uc010etg.3_Missense_Mutation_p.E619K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	619						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATCCGGGAGGAAGCCTTTGT	0.458000														30			22		0	0	0.002299	0	0
OTOA	146183	broad.mit.edu	37	16	21734277	21734277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21734277C>T	uc002djh.3	+	16	1859	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.P541S|OTOA_uc002dji.3_Missense_Mutation_p.P296S|OTOA_uc010vbk.2_Missense_Mutation_p.P268S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	634					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTCTATGCCACCTTTCCTCTT	0.453000														23			21		0	0	0.002780	0	0
DNAH8	1769	broad.mit.edu	37	6	38754603	38754604	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38754603_38754604CC>TT	uc021yzh.1	+	17	2567_2568	c.2458_2459CC>TT	c.(2458-2460)ccc>TTc	p.P820F	DNAH8_uc003ooe.2_Missense_Mutation_p.P603F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAATTTCGATCCCAAAATTTTG	0.351000														23			20		0	0	0.004672	0	0
GJA10	84694	broad.mit.edu	37	6	90604397	90604397	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90604397C>T	uc011eaa.2	+	0	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	70					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATGATGCATTCCCTATCTCTT	0.468000														24			17		0	0	0.004990	0	0
PDE11A	50940	broad.mit.edu	37	2	178762793	178762793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:178762793C>T	uc002ulq.3	-	3	1612	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	PDE11A_uc002ulr.3_Missense_Mutation_p.E182K|PDE11A_uc002uls.1_Missense_Mutation_p.E74K|PDE11A_uc002ult.1_Missense_Mutation_p.E182K|PDE11A_uc002ulu.1_Missense_Mutation_p.E74K	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	432	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I431I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ACTGGTGATTCGATGTCCTCT	0.348000									Primary Pigmented Nodular Adrenocortical Disease, Familial					37			35		0	0	0.001287	0	0
HECW1	23072	broad.mit.edu	37	7	43484484	43484484	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43484484C>T	uc003tid.1	+	10	2318	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	HECW1_uc011kbi.1_Silent_p.P571P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	571					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACAGCATGCCCTCCGCCCAGG	0.687000														17			24		0	0	0.005443	0	0
LOC150776	150776	broad.mit.edu	37	2	132277885	132277885	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132277885C>T	uc002tsz.3	+	2	912	c.465C>T	c.(463-465)gcC>gcT	p.A155A	LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		TCTTCGTGGCCTCTCTGTTCT	0.682000														0			3		0	0	0.000248	0	0
KCNA3	3738	broad.mit.edu	37	1	111215758	111215758	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:111215758C>T	uc001dzv.1	-	0	1898	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	558						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTATTGTTCGTGGTGCAGG	0.458000														63			48		0	0	0.003610	0	0
CDH12	1010	broad.mit.edu	37	5	21975486	21975487	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21975486_21975487GG>AA	uc010iuc.2	-	2	697_698	c.239_240CC>TT	c.(238-240)tcc>tTT	p.S80F	CDH12_uc011cno.1_Missense_Mutation_p.S80F|CDH12_uc003jgk.2_Missense_Mutation_p.S80F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	80	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGTCTAAGTCGGAATGGAGCTT	0.441000										HNSCC(59;0.17)				84			6		0	0	0.004672	0	0
FAM82A1	151393	broad.mit.edu	37	2	38201340	38201340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:38201340C>T	uc002rqn.2	+	2	1270	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	FAM82A1_uc002rqk.1_Missense_Mutation_p.R59C|FAM82A1_uc002rql.3_Missense_Mutation_p.R204C|FAM82A1_uc021vga.1_Missense_Mutation_p.R204C|FAM82A1_uc002rqm.3_Missense_Mutation_p.R59C	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	204						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TGAACTACTTCGTGACCACAA	0.338000														29			26		0	0	0.001512	0	0
OR6C76	390326	broad.mit.edu	37	12	55820949	55820949	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55820949G>A	uc010spm.2	+	0	912	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAAAGATTTCCCACA	0.328000														15			15		0	0	0.000743	0	0
EVI5	7813	broad.mit.edu	37	1	93202034	93202034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:93202034G>A	uc010otf.2	-	1	212	c.202C>T	c.(202-204)Cca>Tca	p.P68S	EVI5_uc001dox.3_Missense_Mutation_p.P68S	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	68	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GAAAGGGCTGGTGTTGATAGT	0.468000														53			42		0	0	0.002222	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9554384	9554384	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:9554384G>A	uc002qzj.3	-	3	250	c.73_splice	c.e3-1	p.S25_splice	ITGB1BP1_uc002qzm.3_Intron|ITGB1BP1_uc002qzk.3_Splice_Site_p.S25_splice|ITGB1BP1_uc002qzl.3_Splice_Site|ITGB1BP1_uc010yiy.2_Intron|ITGB1BP1_uc002qzn.1_Splice_Site_p.S25_splice	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	25	Ser/Thr-rich.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AGAATCCACAGACTGAGAAAC	0.448000														48			25		0	0	0.002780	0	0
RYR1	6261	broad.mit.edu	37	19	39039042	39039042	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39039042C>T	uc002oit.3	+	88	12394	c.12264C>T	c.(12262-12264)tcC>tcT	p.S4088S	RYR1_uc002oiu.3_Silent_p.S4083S|RYR1_uc002oiv.1_Silent_p.S997S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4088					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCTCATCTCCAAGAAGGACT	0.567000														45			23		0	0	0.001061	0	0
DRD5	1816	broad.mit.edu	37	4	9784716	9784716	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:9784716A>G	uc003gmb.4	+	0	1459	c.1063A>G	c.(1063-1065)Aac>Gac	p.N355D		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	355					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTCCTCACTCAACCCCGTCAT	0.627000														24			15		0	0	0.003163	0	0
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:131916126G>A	uc003ytd.4	-	6	2059	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_uc010mds.3_Silent_p.I601I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	601					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTCCTTGACGATATCTTCAG	0.483000										HNSCC(32;0.087)				34			57		0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846528	228846528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228846528C>T	uc002vpq.2	-	11	5055	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1641N|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1670						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)		TGGAAGATATCACCCACTTTC	0.478000														27			25		0	0	0.005443	0	0
CPE	1363	broad.mit.edu	37	4	166385634	166385634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:166385634G>A	uc003irg.4	+	1	677	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	134					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTATGCAACGAATACCAGAA	0.473000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			14		0	0	0.002450	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767635	143767635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:143767635C>T	uc001ejt.3	-	0	247	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	72	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCACCGGTGCCATTAGGGTGT	0.468000														156			42		0	0	0.002522	0	0
PRDM15	63977	broad.mit.edu	37	21	43291606	43291606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:43291606G>A	uc002yzq.1	-	3	649	c.538C>T	c.(538-540)Cct>Tct	p.P180S	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCCCACCAGGAGGTAGGGCA	0.582000														30			25		0	0	0.001061	0	0
UBE2F	140739	broad.mit.edu	37	2	238939237	238939237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238939237C>T	uc002vxk.3	+	6	598	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.P100S|UBE2F_uc010znp.2_Intron|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	132					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TGGCTGGGCTCCCACAAGAAC	0.507000														8			10		0	0	0.001855	0	0
FAM71B	153745	broad.mit.edu	37	5	156589728	156589728	+	Silent	SNP	C	T	T	rs147642455		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156589728C>T	uc003lwn.3	-	1	1648	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	516						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTGGTTCTTCCCCAGTTCCT	0.498000														79			191		0	0	0.003610	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128843307	128843307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128843307G>A	uc009zcp.3	-	20	3052	c.3052C>T	c.(3052-3054)Cct>Tct	p.P1018S	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.P669S	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1018					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAATCCTGAGGGGGGTCATGG	0.493000														59			28		0	0	0.001786	0	0
KIAA0368	23392	broad.mit.edu	37	9	114187776	114187776	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:114187776G>A	uc004bfe.1	-	13	1671	c.1671_splice	c.e13-1	p.T557_splice	KIAA0368_uc010muc.1_Splice_Site_p.T379_splice	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTCTGGACAGCTTTAAATAA	0.323000														3			13		0	0	0.003163	0	0
OR5D13	390142	broad.mit.edu	37	11	55541241	55541241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55541241G>A	uc010ril.2	+	0	328	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTGCATTTTTGGAGTGACAGA	0.408000														73			57		0	0	0.003610	0	0
LMO2	4005	broad.mit.edu	37	11	33880941	33880941	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:33880941C>T	uc001mve.3	-	2	877	c.438G>A	c.(436-438)caG>caA	p.Q146Q	LMO2_uc001mvc.3_Silent_p.Q139Q|LMO2_uc001mvd.3_Silent_p.Q139Q|LMO2_uc010rel.2_Silent_p.Q146Q|LMO2_uc010rem.2_Silent_p.Q215Q	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	146	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.E145K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CGTAGATGTCCTGTTCGCACA	0.502000			T	TRD@	T-ALL									20			11		0	0	0.002450	0	0
CLASP1	23332	broad.mit.edu	37	2	122204918	122204918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:122204918G>A	uc002tnc.3	-	18	2297	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	CLASP1_uc002tna.3_5'UTR|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.S636F|CLASP1_uc010yza.2_Missense_Mutation_p.S636F|CLASP1_uc021vnl.1_Missense_Mutation_p.S636F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.S636F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	636	Ser-rich.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTTACCTAAGGATGCGTATGA	0.522000														6			5		0	0	0.000602	0	0
GCM1	8521	broad.mit.edu	37	6	52993585	52993585	+	Silent	SNP	G	A	A	rs112673732		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:52993585G>A	uc003pbp.3	-	5	939	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	244						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATTCCTCCCAGACCATAACTC	0.458000														36			24		0	0	0.005443	0	0
SCN3A	6328	broad.mit.edu	37	2	166020939	166020939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166020939G>A	uc002ucx.3	-	5	1057	c.565C>T	c.(565-567)Cca>Tca	p.P189S	SCN3A_uc002ucy.3_Missense_Mutation_p.P189S|SCN3A_uc002ucz.3_Missense_Mutation_p.P189S|SCN3A_uc002uda.1_Missense_Mutation_p.P58S|SCN3A_uc002udb.1_Missense_Mutation_p.P58S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	189						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)	CAGTTCCATGGATCACGAAGA	0.373000														34			20		0	0	0.001216	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511310	75511310	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75511310C>T	uc003udw.1	+	1	426	c.342C>T	c.(340-342)ttC>ttT	p.F114F	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	114						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTATCATCTTCCTGTCATTCG	0.562000														51			81		0	0	0.003610	0	0
C7orf58	79974	broad.mit.edu	37	7	120737878	120737878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:120737878G>A	uc003vjq.4	+	5	1189	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	C7orf58_uc003vjr.1_Missense_Mutation_p.E248K|C7orf58_uc003vjs.4_Missense_Mutation_p.E248K|C7orf58_uc003vjt.4_Missense_Mutation_p.E28K|C7orf58_uc010lkk.2_Missense_Mutation_p.E28K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	248						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTGGAGTCGTGAACAGCTGTA	0.438000														78			29		0	0	0.001271	0	0
IGLL3P	91353	broad.mit.edu	37	22	25715826	25715826	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25715826G>A	uc021wnj.1	+	2		c.308G>A								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						TCTCATGAATGACTTCTATCT	0.582000														91			21		0	0	0.001216	0	0
ELF2	1998	broad.mit.edu	37	4	139983201	139983201	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:139983201G>A	uc003ihp.1	-	6	839	c.588C>T	c.(586-588)acC>acT	p.T196T	ELF2_uc003ihm.1_Silent_p.T148T|ELF2_uc003ihn.1_Silent_p.T136T|ELF2_uc003iho.1_Silent_p.T119T|ELF2_uc011chc.1_Silent_p.T11T	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	208					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCCACAAATAGGTTGTGTTTC	0.294000														33			16		0	0	0.004007	0	0
ROCK1P1	727758	broad.mit.edu	37	18	118392	118392	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:118392C>T	uc002kke.3	+	3		c.826C>T								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		AAAGAAAATCCCTAAGAATCC	0.383000														125			47		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22694915	22694915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22694915G>A	uc010ajp.1	+	1	151	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Non-coding_Transcript					SubName: Full=HADV36S1; Flags: Fragment;																		GGTTGTCCACGAGGGAGACAC	0.438000														22			16		0	0	0.001216	0	0
FTSJD2	23070	broad.mit.edu	37	6	37442305	37442305	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:37442305C>T	uc003ons.3	+	17	2080	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	609					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TGTAGAAATCCCAGATCTACA	0.507000														23			15		0	0	0.000958	0	0
OR2A2	442361	broad.mit.edu	37	7	143806715	143806715	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143806715C>T	uc011ktz.2	+	0	40	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CATCACCCTGCTGGGATTCCA	0.527000														32			52		0	0	0.003610	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156652	61156652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61156652G>A	uc002liz.4	+	3	521	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SERPINB5_uc002liy.2_Missense_Mutation_p.E127K	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	127					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TAAATTGGAAGAAACGAAAGG	0.388000														37			22		0	0	0.003954	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937696	34937696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:34937696C>T	uc003jjb.3	+	4	931	c.704C>T	c.(703-705)gCc>gTc	p.A235V	DNAJC21_uc003jjc.3_Missense_Mutation_p.A235V|DNAJC21_uc010iuu.1_Missense_Mutation_p.A119V	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	235	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GCGAGGAAAGCCGAAGAGATG	0.542000														52			33		0	0	0.003271	0	0
RGS7	6000	broad.mit.edu	37	1	240969562	240969562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240969562C>T	uc001hyt.2	-	7	697	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	RGS7_uc010pyh.2_Missense_Mutation_p.E357K|RGS7_uc010pyj.1_Missense_Mutation_p.E299K|RGS7_uc001hyu.2_Missense_Mutation_p.E383K|RGS7_uc009xgn.1_Missense_Mutation_p.E330K|RGS7_uc001hyv.2_Missense_Mutation_p.E383K|RGS7_uc001hyw.2_Missense_Mutation_p.E383K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	383					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGCCATATTTCCTGAACTCTT	0.473000														40			56		0	0	0.003610	0	0
GRB2	2885	broad.mit.edu	37	17	73317851	73317851	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:73317851G>A	uc002jnx.4	-	4	715	c.357C>T	c.(355-357)ttC>ttT	p.F119F	GRB2_uc002jny.4_Silent_p.F78F	NM_002086	NP_002077	P62993	GRB2_HUMAN	Homo sapiens growth factor receptor-bound protein 2 (GRB2), transcript variant 1, mRNA.	119	SH2.				Ras protein signal transduction|T cell costimulation|axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|receptor internalization|signal transduction in response to DNA damage	Golgi apparatus|cytosol	SH3/SH2 adaptor activity|epidermal growth factor receptor binding|insulin receptor substrate binding			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CCACCCAGAGGAAGTACTTCC	0.493000														5			20		0	0	0.001523	0	0
C6orf222	389384	broad.mit.edu	37	6	36298334	36298334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36298334C>T	uc003oly.3	-	1	312	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	45										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AAGCGCCTTCCTGGAGGGGGC	0.657000														37			30		0	0	0.001512	0	0
SLIT2	9353	broad.mit.edu	37	4	20598237	20598237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:20598237C>T	uc003gpr.1	+	31	3724	c.3520C>T	c.(3520-3522)Cct>Tct	p.P1174S	SLIT2_uc003gps.1_Missense_Mutation_p.P1166S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1174	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTCAGATTCCTTCAGCCAA	0.388000														14			21		0	0	0.001216	0	0
MSH2	4436	broad.mit.edu	37	2	47693882	47693882	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:47693882C>T	uc002rvy.1	+	9	1664	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	MSH2_uc010yoh.1_Silent_p.V466V|MSH2_uc002rvz.3_Silent_p.V532V|MSH2_uc010fbg.2_Silent_p.V342V|MSH2_uc010fbh.1_Non-coding_Transcript|MSH2_uc010fbi.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	532					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGAAAAAGTCCTTCGTAACA	0.343000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					34			38		0	0	0.005524	0	0
COL18A1	80781	broad.mit.edu	37	21	46927500	46927500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46927500G>A	uc002zhi.3	+	36	3803	c.3782G>A	c.(3781-3783)cGa>cAa	p.R1261Q	COL18A1_uc002zhg.3_Missense_Mutation_p.R1081Q|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.R59Q|COL18A1_uc002zhk.3_5'UTR	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1496	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCACTCCCACGAGGGACGGTA	0.622000														7			4		0	0	0.000602	0	0
NEXN	91624	broad.mit.edu	37	1	78395031	78395031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:78395031G>A	uc001dic.4	+	8	1192	c.895G>A	c.(895-897)Gca>Aca	p.A299T	NEXN_uc001dia.3_Missense_Mutation_p.A285T|NEXN_uc009wcb.1_Missense_Mutation_p.A221T|NEXN_uc001dib.4_Missense_Mutation_p.A235T|NEXN_uc001did.1_Missense_Mutation_p.A209T|NEXN_uc001dif.1_Missense_Mutation_p.A191T	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	299	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CCAAGACACAGCAAAAATTTT	0.323000														40			15		0	0	0.004007	0	0
DSG3	1830	broad.mit.edu	37	18	29054340	29054340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29054340G>A	uc002kws.3	+	14	2467	c.2358G>A	c.(2356-2358)atG>atA	p.M786I	DSG3_uc002kwt.3_Missense_Mutation_p.M68I	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	786					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)			CGATAAGCATGAATTTTCTGG	0.398000														50			33		0	0	0.004878	0	0
EIF3I	8668	broad.mit.edu	37	1	32694346	32694346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32694346C>T	uc001bur.4	+	8	1191	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	EIF3I_uc009vuc.3_Missense_Mutation_p.L220F	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	220						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTCCACAACTCTTGAACATCA	0.552000														181			145		0	0	0.003610	0	0
CACNA2D1	781	broad.mit.edu	37	7	81593651	81593651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:81593651C>T	uc003uhr.1	-	32	2855	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	CACNA2D1_uc011kgy.1_Missense_Mutation_p.D79N	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	879						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAGCTGGGATCAATCTCTCCA	0.373000														46			9		0	0	0.000443	0	0
SP100	6672	broad.mit.edu	37	2	231404077	231404077	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:231404077C>T	uc002vqu.1	+	24	2331	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	SP100_uc010fxp.1_Silent_p.I48I	NM_001080391	NP_001073860	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.	478					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTGCCACATCCCATCCGTGG	0.507000														28			17		0	0	0.001216	0	0
SON	6651	broad.mit.edu	37	21	34927194	34927194	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:34927194T>C	uc002yse.1	+	2	5706	c.5657T>C	c.(5656-5658)gTa>gCa	p.V1886A	SON_uc002ysb.1_Missense_Mutation_p.V1886A|SON_uc002ysc.3_Missense_Mutation_p.V1886A|SON_uc002ysd.3_Missense_Mutation_p.V877A|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.V877A	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1886					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAAGATCTGTATCAAAAGAG	0.443000														18			9		0	0	0.000673	0	0
NAA11	84779	broad.mit.edu	37	4	80246801	80246801	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:80246801C>T	uc003hlt.4	-	0	371	c.231G>A	c.(229-231)gtG>gtA	p.V77V	NAA11_uc021xpl.1_Silent_p.V77V	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	77	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GTGAACGCTTCACGGCCAGTG	0.572000														58			32		0	0	0.002096	0	0
KLRK1	22914	broad.mit.edu	37	12	10530807	10530807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:10530807G>A	uc009zhj.3	-	6	634	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Missense_Mutation_p.H153Y|KLRK1_uc009zhk.3_Missense_Mutation_p.H153Y|KLRK1_uc001qyd.3_Missense_Mutation_p.H153Y	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	153	C-type lectin.				T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CCCATCCAATGATATGACTTC	0.383000														48			32		0	0	0.003271	0	0
MARK2	2011	broad.mit.edu	37	11	63671580	63671580	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63671580T>G	uc001nxw.3	+	14	2216	c.1637T>G	c.(1636-1638)cTg>cGg	p.L546R	MARK2_uc001nxv.4_Intron|MARK2_uc001nxx.3_Intron|MARK2_uc001nxy.3_Intron|MARK2_uc001nxz.4_Missense_Mutation_p.L512R|MARK2_uc009yoy.3_Missense_Mutation_p.L466R	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	546					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						GCCTCTGGGCTGCCCCCCACG	0.697000														5			5		0	0	0.000602	0	0
DNAH7	56171	broad.mit.edu	37	2	196746636	196746636	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196746636G>A	uc002utj.4	-	35	5945	c.5844C>T	c.(5842-5844)atC>atT	p.I1948I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1948	AAA 3 (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						TTGGCACAATGATTTCATTAA	0.373000														41			28		0	0	0.005443	0	0
SPTLC3	55304	broad.mit.edu	37	20	13145493	13145493	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:13145493G>A	uc002wod.1	+	11	1927	c.1638G>A	c.(1636-1638)acG>acA	p.T546T		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	546					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGATGAGACGAGCTTTGAAC	0.433000														7			5		0	0	0.001168	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564074	176564074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176564074C>T	uc001gkz.3	+	2	2498	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	PAPPA2_uc001gky.1_Missense_Mutation_p.S445L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	445	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTCAGCATTCAAGTGGGGAG	0.537000														81			39		0	0	0.001706	0	0
C12orf63	374467	broad.mit.edu	37	12	97078477	97078477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:97078477C>T	uc021rcc.1	+	7	1121	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	348										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						GCGTTGCATTCACTTGGAAGT	0.333000														83			54		0	0	0.003610	0	0
PAMR1	25891	broad.mit.edu	37	11	35463162	35463162	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:35463162G>A	uc001mwf.3	-	7	994	c.951C>T	c.(949-951)atC>atT	p.I317I	PAMR1_uc001mwg.3_Silent_p.I300I|PAMR1_uc010rew.2_Silent_p.I189I|PAMR1_uc010rex.2_Silent_p.I260I	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	300	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGCGTCCGTTGATAAGCCCAG	0.453000														47			42		0	0	0.002522	0	0
PAK7	57144	broad.mit.edu	37	20	9561072	9561072	+	Missense_Mutation	SNP	G	A	A	rs147760246		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:9561072G>A	uc002wnl.2	-	4	1255	c.710C>T	c.(709-711)tCt>tTt	p.S237F	PAK7_uc002wnk.2_Missense_Mutation_p.S237F|PAK7_uc002wnj.2_Missense_Mutation_p.S237F|PAK7_uc010gby.1_Missense_Mutation_p.S237F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	237	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGCAGTTCTAGAAGGTGTGAA	0.522000														20			21		0	0	0.001882	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345937	147345937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:147345937G>A	uc002twf.4	+	0	1313	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		TCTCCAGAAAGAATTTTCTCC	0.388000														17			8		0	0	0.003080	0	0
ILDR2	387597	broad.mit.edu	37	1	166927192	166927192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:166927192G>A	uc001gdx.2	-	1	249	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	65	Ig-like V-type.					integral to membrane		p.R65C(2)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTCCCATGCGATCCTGGCAG	0.557000														87			30		0	0	0.002445	0	0
OR51B5	282763	broad.mit.edu	37	11	5364248	5364248	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5364248G>A	uc001map.1	-	0	507	c.507C>T	c.(505-507)tcC>tcT	p.S169S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.S169S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGAACATGGGAGTGACAAT	0.473000														57			32		0	0	0.003755	0	0
SEZ6	124925	broad.mit.edu	37	17	27308743	27308743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:27308743G>A	uc002hdp.2	-	1	564	c.370C>T	c.(370-372)Cca>Tca	p.P124S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P124S|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.P124S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	124	Pro-rich.					integral to membrane|plasma membrane		p.T123I(1)		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)			GCCATGGCTGGAGTGGGGCTG	0.647000														9			29		0	0	0.001271	0	0
PLCH1	23007	broad.mit.edu	37	3	155203269	155203269	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:155203269C>T	uc021xge.1	-	21	3151	c.2874G>A	c.(2872-2874)agG>agA	p.R958R	PLCH1_uc021xgd.1_Silent_p.R958R|PLCH1_uc021xgf.1_Silent_p.R920R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	958					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGTGGTCCTCCTCAGCACGC	0.502000														48			42		0	0	0.001706	0	0
EXT2	2132	broad.mit.edu	37	11	44146474	44146474	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:44146474C>T	uc001mya.3	+	4	1034	c.978C>T	c.(976-978)gtC>gtT	p.V326V	EXT2_uc010rfo.2_Silent_p.V321V|EXT2_uc009ykt.3_Silent_p.V293V|EXT2_uc001mxz.3_Silent_p.V293V	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	293					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity	p.L326L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CAGAGGGTGTCCTTTCTGTCC	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					29			15		0	0	0.000743	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950850	24950850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24950850G>A	uc002dnb.3	-	16	1652	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	ARHGAP17_uc002dmy.3_5'Flank|ARHGAP17_uc002dmz.3_Missense_Mutation_p.S44F|ARHGAP17_uc002dna.3_Missense_Mutation_p.S247F|ARHGAP17_uc002dnc.3_Intron|ARHGAP17_uc010vcf.2_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GAAAGCGGGGGATATGTGCTT	0.592000														8			4		0	0	0.000248	0	0
SP7	121340	broad.mit.edu	37	12	53722505	53722505	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53722505C>G	uc001sct.3	-	1	828	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	SP7_uc001scv.3_Missense_Mutation_p.E241Q|SP7_uc001scu.3_Missense_Mutation_p.E223Q	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACTCCCTTCTAGCTGCCCA	0.622000														26			18		0	0	0.000743	0	0
TOP1MT	116447	broad.mit.edu	37	8	144407676	144407676	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144407676G>A	uc003yxz.3	-	4	530	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	TOP1MT_uc011lkd.2_Nonsense_Mutation_p.Q73*|TOP1MT_uc011lke.2_Nonsense_Mutation_p.Q73*|TOP1MT_uc011lkf.2_5'Flank|TOP1MT_uc010mfd.1_Intron	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	171					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AACTCTTGCTGAAGTTTTTCT	0.458000														74			26		0	0	0.005443	0	0
AHNAK	79026	broad.mit.edu	37	11	62284730	62284730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62284730G>A	uc001ntl.3	-	4	17459	c.17159C>T	c.(17158-17160)tCc>tTc	p.S5720F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5720					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGGTTTGGAAAAATTAAA	0.493000														58			41		0	0	0.003610	0	0
SDK2	54549	broad.mit.edu	37	17	71420077	71420077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:71420077G>A	uc010dfm.3	-	12	1738	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	SDK2_uc010dfn.2_Missense_Mutation_p.R259C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	580	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						TGGGCACTGCGAGAGTCGTTG	0.647000														1			3		0	0	0.004672	0	0
TINAG	27283	broad.mit.edu	37	6	54208130	54208130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:54208130G>A	uc003pcj.2	+	4	877	c.731G>A	c.(730-732)tGg>tAg	p.W244*	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	244					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCATCCTGGGCATTTTCC	0.368000														32			25		0	0	0.001061	0	0
DHX34	9704	broad.mit.edu	37	19	47885322	47885322	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47885322C>T	uc010xyn.2	+	16	3733	c.3384C>T	c.(3382-3384)ttC>ttT	p.F1128F	DHX34_uc010xyo.1_Silent_p.F257F	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1128						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAAGGACTTCCTCTTTACAC	0.642000														24			19		0	0	0.002299	0	0
DSCAML1	57453	broad.mit.edu	37	11	117340694	117340694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117340694G>A	uc001prh.1	-	15	3138	c.3136C>T	c.(3136-3138)Ccc>Tcc	p.P1046S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	986	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.P1046P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCCCATCGGGAGCTGAGCAG	0.567000														45			25		0	0	0.001271	0	0
C15orf44	81556	broad.mit.edu	37	15	65899684	65899684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:65899684G>A	uc010uix.2	-	1	531	c.143C>T	c.(142-144)tCc>tTc	p.S48F	C15orf44_uc002apd.3_Missense_Mutation_p.S12F|C15orf44_uc010uja.2_Missense_Mutation_p.S44F|C15orf44_uc010ujb.2_Intron|C15orf44_uc002ape.4_Missense_Mutation_p.S12F|C15orf44_uc010uiy.2_5'UTR|C15orf44_uc010uiz.2_Missense_Mutation_p.S12F|C15orf44_uc010ujc.2_Missense_Mutation_p.S44F			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	12	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TCGGGTCATGGAAAGGGATAC	0.478000														19			9		0	0	0.000673	0	0
LMTK3	114783	broad.mit.edu	37	19	49012212	49012212	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49012212C>T	uc002pjk.3	-	5	540	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGAGAAAATCTCTCCCAGGA	0.657000														32			24		0	0	0.003954	0	0
COG4	25839	broad.mit.edu	37	16	70557456	70557456	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70557456C>T	uc002ezc.3	-	1	1	c.-10_splice	c.e1-1		COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTCGGCACTTCCGGTCCCGCG	0.582000														20			16		0	0	0.004990	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704930	36704930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36704930C>T	uc002hqd.3	-	16	3358	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	SRCIN1_uc002hqf.1_Missense_Mutation_p.E917K|SRCIN1_uc002hqe.2_Missense_Mutation_p.E899K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	917					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACCTCCAGCTCCTCGGACTCA	0.667000														1			10		0	0	0.000673	0	0
OR51F2	119694	broad.mit.edu	37	11	4843444	4843444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4843444C>T	uc010qyn.2	+	0	829	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTGTCCATCGCTATGGCCA	0.468000														50			38		0	0	0.001287	0	0
APOF	319	broad.mit.edu	37	12	56755841	56755841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56755841G>A	uc001sle.1	-	1	203	c.149C>T	c.(148-150)cCc>cTc	p.P50L		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	50					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	p.P50L(4)|p.P50P(1)		breast(1)|lung(3)|prostate(1)|stomach(1)	6						CAAGGACAAGGGAAAGTGCAT	0.522000														81			31		0	0	0.003755	0	0
C18orf26	284254	broad.mit.edu	37	18	52265165	52265165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52265165C>T	uc002lfq.1	+	2	468	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	141						integral to membrane		p.G140E(1)		endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AACAAAGGATCGGCCAATTCC	0.448000														40			16		0	0	0.004007	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841976	8841976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8841976G>A	uc010xkg.2	+	0	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTGCCTACGAGATGGCGCT	0.567000														38			38		0	0	0.004878	0	0
RYR1	6261	broad.mit.edu	37	19	39063864	39063864	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39063864G>A	uc002oit.3	+	95	14176	c.14046G>A	c.(14044-14046)ctG>ctA	p.L4682L	RYR1_uc002oiu.3_Silent_p.L4677L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4682					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGGAAGCTGGAGTTTGATG	0.617000														16			18		0	0	0.000743	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446626	107446626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107446626G>A	uc002tdq.3	-	4	1333	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P405L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P405L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	405					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						AATGTAAAATGGCTGATTTGG	0.378000														50			33		0	0	0.004289	0	0
TACC2	10579	broad.mit.edu	37	10	123970390	123970390	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123970390G>A	uc001lfv.3	+	8	6810	c.6450G>A	c.(6448-6450)gtG>gtA	p.V2150V	TACC2_uc001lfw.3_Silent_p.V296V|TACC2_uc009xzx.3_Silent_p.V2105V|TACC2_uc010qtv.2_Silent_p.V2154V|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Silent_p.V228V|TACC2_uc001lga.3_Silent_p.V228V|TACC2_uc009xzy.3_Silent_p.V228V|TACC2_uc001lgb.3_Silent_p.V185V|TACC2_uc010qtw.1_Silent_p.V245V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2150						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCCCCCAGTGAAGGAGACGC	0.517000														64			38		0	0	0.001706	0	0
SMR3A	26952	broad.mit.edu	37	4	71232589	71232589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71232589C>T	uc003hfg.1	+	2	364	c.283C>T	c.(283-285)Cct>Tct	p.P95S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	95	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACACTCTCTTCCTCCTCCTTA	0.532000														36			25		0	0	0.005443	0	0
F13B	2165	broad.mit.edu	37	1	197029643	197029643	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197029643C>A	uc001gtt.1	-	4	702	c.658G>T	c.(658-660)Gaa>Taa	p.E220*		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	220	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAACCATTTTCAATTAATCTT	0.264000														61			21		1.10513e-12	2.32188e-12	0.002299	1	0
CNTN1	1272	broad.mit.edu	37	12	41316077	41316077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41316077G>A	uc001rmm.1	+	4	360	c.247G>A	c.(247-249)Gac>Aac	p.D83N	CNTN1_uc009zjy.2_Missense_Mutation_p.D83N|CNTN1_uc001rmn.1_Missense_Mutation_p.D72N|CNTN1_uc001rmo.3_Missense_Mutation_p.D83N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	83	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAATAATGGGGACGTTGATCT	0.388000														20			22		0	0	0.004656	0	0
OR4C3	256144	broad.mit.edu	37	11	48346951	48346951	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48346951G>A	uc010rhv.2	+	0	459	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCATCTGTAAGCCCCTGCACA	0.522000														56			36		0	0	0.004878	0	0
MYO3A	53904	broad.mit.edu	37	10	26459364	26459364	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26459364C>T	uc001isn.2	+	28	3654	c.3294C>T	c.(3292-3294)gtC>gtT	p.V1098V	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1098	IQ 2.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GACACCTTGTCAGGAAACAAA	0.323000														17			11		0	0	0.000978	0	0
ASH1L	55870	broad.mit.edu	37	1	155448429	155448429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155448429G>A	uc009wqq.3	-	2	4712	c.4232C>T	c.(4231-4233)cCt>cTt	p.P1411L	ASH1L_uc001fkt.3_Missense_Mutation_p.P1411L|ASH1L_uc009wqr.1_Missense_Mutation_p.P1411L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1411	Pro-rich.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGATGGAGGAGGTGGATAAAG	0.448000														31			47		0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84350864	84350864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84350864C>T	uc021zcf.1	-	6	746	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	SNAP91_uc003pka.3_Missense_Mutation_p.R239Q|SNAP91_uc011dze.2_Missense_Mutation_p.R239Q|SNAP91_uc003pkc.3_Missense_Mutation_p.R239Q|SNAP91_uc003pkd.3_Missense_Mutation_p.R239Q|SNAP91_uc003pkb.3_Missense_Mutation_p.R204Q|SNAP91_uc011dzf.1_Missense_Mutation_p.R120Q	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	239					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTAGAAATCGTTTGTAAAT	0.284000														5			4		0	0	0.000602	0	0
C1orf9	51430	broad.mit.edu	37	1	172525121	172525121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:172525121C>T	uc001giq.4	+	3	717	c.401C>T	c.(400-402)tCc>tTc	p.S134F	C1orf9_uc010pmm.1_Missense_Mutation_p.S134F|C1orf9_uc009wwd.3_Missense_Mutation_p.S97F|C1orf9_uc010pmn.2_Missense_Mutation_p.S97F|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	134					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GAAAATATTTCCAGCTCATCT	0.373000														21			28		0	0	0.001512	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114066	11114066	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:11114066C>T	uc021tcy.1	+	11	1550	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CLEC16A_uc002dan.4_Silent_p.I422I|CLEC16A_uc002dao.3_Silent_p.I438I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	440								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGATGGTGATCATGGAGCGTA	0.537000														37			16		0	0	0.000958	0	0
LGALS9B	284194	broad.mit.edu	37	17	20358623	20358623	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:20358623C>G	uc002gxa.1	-	4	598	c.533G>C	c.(532-534)aGa>aCa	p.R178T	LGALS9B_uc002gwz.1_Missense_Mutation_p.R178T|LGALS9B_uc010vzh.1_Missense_Mutation_p.R90T	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	178							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CACTTTTTGTCTGCGCCCCCT	0.622000														1			8		0	0	0.002450	0	0
KY	339855	broad.mit.edu	37	3	134329145	134329145	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:134329145T>A	uc010hty.3	-	8	853	c.791A>T	c.(790-792)gAg>gTg	p.E264V	KY_uc011blw.2_Missense_Mutation_p.E264V|KY_uc011blx.2_Missense_Mutation_p.E243V|KY_uc003eqr.1_Missense_Mutation_p.E30V	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	264						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATGGTCAAACTCCCCCGAGAA	0.622000														35			17		0	0	0.004990	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758126	40758126	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40758126T>A	uc001cfg.3	+	9	1424	c.1213T>A	c.(1213-1215)Ttt>Att	p.F405I		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	405						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GGTTCTTTCTTTTTGCCTAAC	0.398000														100			58		0	0	0.003610	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579768	81579768	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:81579768G>A	uc003uhr.1	-	38	3472	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	AK092048_uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Silent_p.I284I	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1084						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGATTCCAATGATATACCACA	0.388000														29			38		0	0	0.001287	0	0
LSP1	4046	broad.mit.edu	37	11	1908760	1908760	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1908760G>A	uc001lui.3	+	9	1162	c.987G>A	c.(985-987)gaG>gaA	p.E329E	LSP1_uc001luj.3_Silent_p.E457E|LSP1_uc001luk.3_Silent_p.E267E|LSP1_uc001lul.3_Silent_p.E267E|LSP1_uc001lum.3_Silent_p.E267E	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	329					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGAAGTATGAGAAGGTGCTTG	0.577000														28			16		0	0	0.001523	0	0
ALB	213	broad.mit.edu	37	4	74279335	74279335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74279335G>A	uc003hgs.4	+	7	1115	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ALB_uc011cbe.2_Missense_Mutation_p.D27N|ALB_uc003hgw.4_Missense_Mutation_p.D156N|ALB_uc011cbf.2_Missense_Mutation_p.D238N	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	348	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAGGCAAAGGATGTCTTCCT	0.413000														32			33		0	0	0.005524	0	0
RORA	6095	broad.mit.edu	37	15	60919495	60919495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:60919495G>A	uc002agv.3	-	0	235	c.79C>T	c.(79-81)Cga>Tga	p.R27*	RORA_uc002agw.3_Nonsense_Mutation_p.R27*|RORA_uc002agx.3_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	27	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R27Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGTCCAGTTCGAAGACAATGA	0.532000														48			29		0	0	0.001512	0	0
YBX1	4904	broad.mit.edu	37	1	43166585	43166585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43166585C>T	uc001chs.3	+	6	1045	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004559	NP_004550	P67809	YBOX1_HUMAN	Homo sapiens Y box binding protein 1 (YBX1), mRNA.	292					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|U12-type spliceosomal complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule	RNA binding|double-stranded DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGCAGACGCCCAGAAAACCC	0.542000														52			10		0	0	0.000673	0	0
UCP3	7352	broad.mit.edu	37	11	73714897	73714897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:73714897C>T	uc001our.3	-	5	1154	c.799G>A	c.(799-801)Gag>Aag	p.E267K	UCP3_uc001ous.2_Missense_Mutation_p.E267K	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.	267					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)					GTGGGGCCCTCCTGGGCCACC	0.597000														64			58		0	0	0.003610	0	0
CECR2	27443	broad.mit.edu	37	22	18022581	18022581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:18022581C>T	uc010gqw.1	+	14	2677	c.2677C>T	c.(2677-2679)Ccg>Tcg	p.P893S	CECR2_uc010gqv.1_Missense_Mutation_p.P754S|CECR2_uc002zml.2_Missense_Mutation_p.P754S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	937					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGCCCTTTTCCGCAGGTAGC	0.627000														46			16		0	0	0.001216	0	0
CT47B1	643311	broad.mit.edu	37	X	120008882	120008882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:120008882C>T	uc011muc.2	-	0	898	c.643G>A	c.(643-645)Gcc>Acc	p.A215T		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	215										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGCTCCCTGGCCATCTCGGCC	0.697000														6			19		0	0	0.001523	0	0
TFDP3	51270	broad.mit.edu	37	X	132351975	132351975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:132351975C>T	uc004exb.1	-	0	402	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	105						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCATTCTTCTCTCCTTTCCTG	0.582000														6			31		0	0	0.003271	0	0
C1orf65	164127	broad.mit.edu	37	1	223568531	223568531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223568531G>A	uc001hoa.2	+	0	1817	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	572										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCAGAGGGTGCAGCACAT	0.532000														37			20		0	0	0.000958	0	0
PDE6C	5146	broad.mit.edu	37	10	95400676	95400676	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95400676G>A	uc001kiu.4	+	14	1876	c.1738_splice	c.e14-1	p.T580_splice		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	580					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TATTTTTTTAGACAGGAAGAT	0.363000														29			13		0	0	0.001855	0	0
KIF15	56992	broad.mit.edu	37	3	44893303	44893303	+	Silent	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44893303T>G	uc003cnx.4	+	32	3980	c.3831T>G	c.(3829-3831)ctT>ctG	p.L1277L	KIF15_uc010hiq.3_Silent_p.L1180L|KIF15_uc010hir.3_Silent_p.L325L	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1277					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAAGTGCCCTTTACAACAAAG	0.368000														86			63		0	0	0.003610	0	0
GATA2	2624	broad.mit.edu	37	3	128200680	128200680	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:128200680G>A	uc003ekm.3	-	5	1560	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	GATA2_uc003ekn.3_Silent_p.L361L|GATA2_uc003eko.2_Silent_p.L375L	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	375					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCTTGTAGTAGAGGCCACAGG	0.647000			Mis		AML(CML blast transformation)									21			11		0	0	0.000978	0	0
BNC1	646	broad.mit.edu	37	15	83933105	83933105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:83933105C>T	uc002bjt.1	-	3	986	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	BNC1_uc010uos.1_Missense_Mutation_p.E288K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	300					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						TGATCTTTTTCAACCTGAAAT	0.448000														47			33		0	0	0.002445	0	0
APOB	338	broad.mit.edu	37	2	21230212	21230212	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21230212C>T	uc002red.3	-	25	9656	c.9528G>A	c.(9526-9528)caG>caA	p.Q3176Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3176	Basic (possible receptor binding region).|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A3175T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTCTTATACTGAGCTTTTA	0.368000														348			236		0	0	0.003610	0	0
SYT8	90019	broad.mit.edu	37	11	1858596	1858596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1858596G>A	uc001lue.1	+	8	1269	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	SYT8_uc001lud.2_Missense_Mutation_p.E381K|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	381						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCAGCCAGGGAGGTGGACCG	0.741000														11			10		0	0	0.000673	0	0
CACNG5	27091	broad.mit.edu	37	17	64875095	64875095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:64875095G>A	uc010wqi.2	+	2	439	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CACNG5_uc010wqj.2_Missense_Mutation_p.E68K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	68					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|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACAGGTGAGGAGCGGGGGCG	0.468000														11			47		0	0	0.003610	0	0
UPF2	26019	broad.mit.edu	37	10	12071456	12071456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:12071456G>A	uc001ila.3	-	1	907	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	UPF2_uc001ilb.3_Missense_Mutation_p.R145C|UPF2_uc001ilc.3_Missense_Mutation_p.R145C|UPF2_uc009xiz.2_Missense_Mutation_p.R145C	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	145					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTTTTGCTACGAAGTTCCTTT	0.373000														295			213		0	0	0.003610	0	0
E2F6	1876	broad.mit.edu	37	2	11593743	11593743	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:11593743G>A	uc002rbh.3	-	2	637	c.345C>T	c.(343-345)ctC>ctT	p.L115L	E2F6_uc002rbg.3_Silent_p.L40L|E2F6_uc002rbi.3_Silent_p.L40L|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Silent_p.L40L|E2F6_uc002rbf.3_Silent_p.L83L|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	115					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCTTTTCAACGAGGTCGATTC	0.423000														77			37		0	0	0.002522	0	0
GDI1	2664	broad.mit.edu	37	X	153667183	153667183	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:153667183C>T	uc004fli.4	+	2	568	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	GDI1_uc011mzo.1_Silent_p.L76L	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	76					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAATGTTGACCTGATTCCCAA	0.567000														12			90		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38211237	38211237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38211237C>T	uc010abx.3	-	10	2987	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	TRPC4_uc010abv.3_Missense_Mutation_p.E493K|TRPC4_uc001uwt.3_Missense_Mutation_p.E829K|TRPC4_uc001uws.3_Missense_Mutation_p.E913K|TRPC4_uc010tey.2_Missense_Mutation_p.E772K|TRPC4_uc010abw.3_Missense_Mutation_p.E740K|TRPC4_uc010aby.3_Missense_Mutation_p.E764K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	913	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTATTCCTTTCTCTATGGTCT	0.463000														44			20		0	0	0.001523	0	0
ALOX15	246	broad.mit.edu	37	17	4541961	4541961	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4541961G>A	uc002fyh.3	-	4	586	c.561C>T	c.(559-561)atC>atT	p.I187I	ALOX15_uc010vsd.2_Silent_p.I148I|ALOX15_uc010vse.2_Silent_p.I209I	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	187	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GAGAGTCTTTGATAGCGAGGT	0.547000														8			46		0	0	0.003610	0	0
ADAD1	132612	broad.mit.edu	37	4	123302155	123302155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:123302155C>T	uc003ieo.3	+	3	413	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ADAD1_uc003iep.3_Missense_Mutation_p.P61S|ADAD1_uc003ieq.3_Missense_Mutation_p.P43S	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	61					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGTAATTTTCCAGAGCCGTT	0.323000														23			21		0	0	0.001216	0	0
AMPD1	270	broad.mit.edu	37	1	115218274	115218274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115218274C>T	uc001efe.2	-	11	1703	c.1655G>A	c.(1654-1656)aGt>aAt	p.S552N	AMPD1_uc001eff.2_Missense_Mutation_p.S548N	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	519					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATGTGGCCACTGTGTTTGGA	0.478000														89			43		0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21245886	21245886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21245886G>A	uc002red.3	-	17	2761	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	878					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P877S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACAGACACGGAGGGTTTTGC	0.478000														162			163		0	0	0.003610	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656898	46656898	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:46656898C>T	uc003bhh.3	-	0	2322	c.2322G>A	c.(2320-2322)caG>caA	p.Q774Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	774	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGCACGTTTCTGAGCATCCC	0.418000														48			25		0	0	0.001271	0	0
TCR	0	broad.mit.edu	37	14	22739876	22739876	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22739876G>A	uc001wdn.3	+	0	56	c.23G>A	c.(22-24)tGg>tAg	p.W8*	TCRA_uc001wbw.2_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCR_uc021rpx.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		AGCTTGCTGTGGGCAGTCGTG	0.502000														26			21		0	0	0.003330	0	0
ZNF516	9658	broad.mit.edu	37	18	74091181	74091181	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:74091181G>A	uc021ulp.1	-	3	3207	c.2889C>T	c.(2887-2889)gcC>gcT	p.A963A	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TATTTGTGGGGGCAAAGCCAG	0.662000														26			19		0	0	0.003330	0	0
SNED1	25992	broad.mit.edu	37	2	242003009	242003009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242003009G>A	uc002wah.1	+	17	2377	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	SNED1_uc002wai.1_Missense_Mutation_p.D28N|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	793	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCAGAGAGGGATGAGTGCCG	0.612000														7			5		0	0	0.000602	0	0
PRSS12	8492	broad.mit.edu	37	4	119216939	119216939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119216939G>A	uc003ica.2	-	9	1957	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	637	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						TTACCTTAAAGAATTTTTCCC	0.358000														45			33		0	0	0.001485	0	0
TJP1	7082	broad.mit.edu	37	15	30012097	30012097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:30012097G>A	uc001zcr.3	-	19	3362	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	TJP1_uc010azl.3_Missense_Mutation_p.P951S|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	963					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGTGGAAGGAGCTGGGGTG	0.448000														62			34		0	0	0.003271	0	0
WISP1	8840	broad.mit.edu	37	8	134239812	134239812	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:134239812C>T	uc003yub.3	+	4	1069	c.963C>T	c.(961-963)tcC>tcT	p.S321S	WISP1_uc003yuc.3_Silent_p.S234S|WISP1_uc010meb.3_Silent_p.S149S|WISP1_uc010mec.3_3'UTR|WISP1_uc010med.3_Silent_p.S76S|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	321	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCGACGTGTCCTTCCAGTGTC	0.517000														36			59		0	0	0.003610	0	0
DTX4	23220	broad.mit.edu	37	11	58949302	58949302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58949302C>T	uc001nns.2	+	1	559	c.302C>T	c.(301-303)tCc>tTc	p.S101F	DTX4_uc001nnr.2_5'UTR	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	101	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GACAATGGCTCCTGGACGCCC	0.602000														51			27		0	0	0.001786	0	0
WWC3	55841	broad.mit.edu	37	X	10094265	10094265	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:10094265C>T	uc004csx.4	+	14	2223	c.2025C>T	c.(2023-2025)ccC>ccT	p.P675P	WWC3_uc010nds.3_Silent_p.P339P|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	675	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCAGAATCCCCGTGCATTCCA	0.557000														13			38		0	0	0.005524	0	0
ODZ1	10178	broad.mit.edu	37	X	123556122	123556122	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:123556122C>T	uc010nqy.3	-	24	4535	c.4471_splice	c.e24+1	p.G1491_splice	ODZ1_uc011muj.2_Splice_Site_p.G1490_splice|ODZ1_uc004euj.3_Splice_Site_p.G1484_splice	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1484					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						AAGGTCATACCTGAAAAACAG	0.438000														5			14		0	0	0.002450	0	0
MAG	4099	broad.mit.edu	37	19	35786590	35786590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35786590C>T	uc002nyy.2	+	3	319	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	MAG_uc002nyx.2_Missense_Mutation_p.P41S|MAG_uc010eds.2_Missense_Mutation_p.P16S|MAG_uc002nyz.2_Missense_Mutation_p.P41S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	41	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTCTCCATCCCCTGCCGCTT	0.647000														21			24		0	0	0.004656	0	0
NRXN3	9369	broad.mit.edu	37	14	79423658	79423658	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:79423658G>A	uc001xun.3	+	7	1721	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.R535R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	180					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)		GGGTGGTGCGGAGAGGAAAAA	0.488000														18			71		0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123954640	123954640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123954640G>A	uc001lfv.3	+	7	6280	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	TACC2_uc001lfw.3_Missense_Mutation_p.E120K|TACC2_uc009xzx.3_Missense_Mutation_p.E1929K|TACC2_uc010qtv.2_Missense_Mutation_p.E1978K|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.E52K|TACC2_uc001lga.3_Missense_Mutation_p.E52K|TACC2_uc009xzy.3_Missense_Mutation_p.E52K|TACC2_uc010qtw.1_Missense_Mutation_p.E69K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1974	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCACCCCCCGAAGTCATCCC	0.617000														12			15		0	0	0.003163	0	0
DDR1	780	broad.mit.edu	37	6	30857031	30857031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30857031C>T	uc003nrv.3	+	2	283	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	DDR1_uc010jse.3_Missense_Mutation_p.P81S|DDR1_uc003nrq.3_Missense_Mutation_p.P81S|DDR1_uc003nrr.3_Missense_Mutation_p.P81S|DDR1_uc003nrs.3_Missense_Mutation_p.P81S|DDR1_uc003nrt.3_Missense_Mutation_p.P81S|DDR1_uc011dms.2_Missense_Mutation_p.P99S|DDR1_uc011dmt.2_Missense_Mutation_p.P107S|DDR1_uc003nru.3_Missense_Mutation_p.P81S|DDR1_uc011dmu.1_Missense_Mutation_p.P81S|DDR1_uc003nry.2_Missense_Mutation_p.P81S|DDR1_uc003nrx.2_Missense_Mutation_p.P81S|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	81	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P81P(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GTCGGTGTTTCCCAAGGAGGA	0.647000														67			48		0	0	0.003610	0	0
PKN2	5586	broad.mit.edu	37	1	89290058	89290058	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:89290058T>A	uc001dmn.3	+	17	2750	c.2408T>A	c.(2407-2409)cTt>cAt	p.L803H	PKN2_uc010osp.2_Missense_Mutation_p.L787H|PKN2_uc010osq.2_Missense_Mutation_p.L646H|PKN2_uc009wcv.3_Missense_Mutation_p.L755H|PKN2_uc010osr.2_Missense_Mutation_p.L468H	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	803	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GATTTTGGTCTTTGCAAAGAA	0.308000														56			32		0	0	0.002096	0	0
USH1C	10083	broad.mit.edu	37	11	17542541	17542541	+	Splice_Site	SNP	C	T	T	rs147727890		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17542541C>T	uc001mnf.3	-	14	1195	c.1086_splice	c.e14-1	p.Q362_splice	USH1C_uc001mne.3_Splice_Site_p.Q362_splice|USH1C_uc009yhb.3_Splice_Site_p.Q343_splice|USH1C_uc001mng.3_Splice_Site|USH1C_uc001mnd.3_Splice_Site_p.Q326_splice	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	362					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						CCTCTACAATCCTAAAATGAG	0.522000														179			90		0	0	0.003610	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663121	49663121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:49663121G>A	uc001jgu.3	-	5	1061	c.764C>T	c.(763-765)cCc>cTc	p.P255L	ARHGAP22_uc001jgs.3_Missense_Mutation_p.P149L|ARHGAP22_uc001jgt.3_Missense_Mutation_p.P239L|ARHGAP22_uc010qgl.2_Missense_Mutation_p.P196L|ARHGAP22_uc010qgm.2_Missense_Mutation_p.P245L|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	239	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						CACGGGCTCGGGGAGCTCCCG	0.662000														17			6		0	0	0.001168	0	0
MEFV	4210	broad.mit.edu	37	16	3306475	3306475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3306475G>A	uc002cun.1	-	0	153	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MEFV_uc021tbw.1_Missense_Mutation_p.S38F|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	38	DAPIN.				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)	GGGGATCCTGGAGTGCTCCTT	0.587000														47			35		0	0	0.002445	0	0
HAND2	9464	broad.mit.edu	37	4	174450078	174450078	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:174450078T>A	uc003itg.1	-	1	349	c.259A>T	c.(259-261)Act>Tct	p.T87S	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Missense_Mutation_p.E121D			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	0					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ACTCGCGCAGTTCGGCGAAGG	0.682000														53			34		0	0	0.003755	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982977	92982977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:92982977C>T	uc022axs.1	-	10	1812	c.1625G>A	c.(1624-1626)aGg>aAg	p.R542K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R456K|RUNX1T1_uc010mam.3_Missense_Mutation_p.R456K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R446K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R483K|RUNX1T1_uc022axo.1_Missense_Mutation_p.R483K|RUNX1T1_uc010mao.3_Missense_Mutation_p.R456K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R494K|RUNX1T1_uc022axp.1_Missense_Mutation_p.R483K|RUNX1T1_uc022axq.1_Missense_Mutation_p.R483K|RUNX1T1_uc022axr.1_Missense_Mutation_p.R483K|RUNX1T1_uc022axt.1_Missense_Mutation_p.R483K|RUNX1T1_uc022axu.1_Missense_Mutation_p.R463K|RUNX1T1_uc022axv.1_Missense_Mutation_p.R483K|RUNX1T1_uc010man.2_Missense_Mutation_p.R108K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R446K	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.	483					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)			CATCTTGGCCCTCTCTGTTGT	0.622000														28			33		0	0	0.002836	0	0
APC2	10297	broad.mit.edu	37	19	1465875	1465875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1465875G>A	uc002lsr.1	+	14	2783	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	APC2_uc002lss.1_Missense_Mutation_p.E441K|APC2_uc002lst.1_Missense_Mutation_p.E859K|APC2_uc002lsu.1_Missense_Mutation_p.E858K|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	859					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)		CCAGCTGGTGGAGGACATCTC	0.692000														7			6		0	0	0.001984	0	0
DCAF5	8816	broad.mit.edu	37	14	69521726	69521726	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:69521726G>A	uc001xkp.3	-	8	1896	c.1677C>T	c.(1675-1677)tcC>tcT	p.S559S	DCAF5_uc001xkq.3_Silent_p.S558S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	559						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TGGAACTGCTGGATTCATCTT	0.572000														8			37		0	0	0.004878	0	0
CDH23	64072	broad.mit.edu	37	10	73544059	73544059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:73544059C>T	uc001jrx.4	+	39	5765	c.5375C>T	c.(5374-5376)tCt>tTt	p.S1792F		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1795	Cadherin 17.				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						TTTGTGATCTCTCCTGTGGAG	0.607000														22			12		0	0	0.003163	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364881	185364881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:185364881G>A	uc003fpo.3	-	14	1718	c.1639C>T	c.(1639-1641)Cgt>Tgt	p.R547C	IGF2BP2_uc010hyi.3_Missense_Mutation_p.R490C|IGF2BP2_uc010hyj.3_Missense_Mutation_p.R484C|IGF2BP2_uc010hyk.3_Missense_Mutation_p.R411C|IGF2BP2_uc010hyl.3_Missense_Mutation_p.R441C|IGF2BP2_uc003fpp.3_Missense_Mutation_p.R504C|IGF2BP2_uc003fpq.3_Missense_Mutation_p.R552C	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	547	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GTTTGGTCACGAGGCACGATG	0.532000														201			143		0	0	0.003610	0	0
RGL1	23179	broad.mit.edu	37	1	183711383	183711383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:183711383G>A	uc001gqm.3	+	1	552	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RGL1_uc010pof.1_5'UTR|RGL1_uc010pog.2_Missense_Mutation_p.E31K|RGL1_uc010poh.2_Missense_Mutation_p.E31K	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGCTGGTGGAAGATCATGT	0.428000														33			38		0	0	0.001706	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627006	108627006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108627006C>T	uc002tdv.3	+	8	1708	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	SLC5A7_uc010ywm.2_Missense_Mutation_p.P231S|SLC5A7_uc010fjj.3_Missense_Mutation_p.P478S|SLC5A7_uc010ywn.2_Missense_Mutation_p.P365S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	478					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.P478S(2)		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)	TCAGAAATTTCCATTTAAAAC	0.383000														36			27		0	0	0.004656	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821071	122821071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:122821071G>A	uc003vkm.3	-	1	209	c.184C>T	c.(184-186)Cct>Tct	p.P62S	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	62						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.P62H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATTAAACTAGGTAGCAAAGCT	0.423000														25			36		0	0	0.004878	0	0
FAM47B	170062	broad.mit.edu	37	X	34962065	34962065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:34962065G>A	uc004ddi.2	+	0	1153	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	373										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACAACCGAGGAACTCACCAA	0.547000														2			11		0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179467100	179467100	+	Silent	SNP	C	T	T	rs62178963	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179467100C>T	uc021vsy.1	-	231	47550	c.47325G>A	c.(47323-47325)agG>agA	p.R15775R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R9470R|TTN_uc021vta.1_Silent_p.R9403R|TTN_uc021vtb.1_Silent_p.R9278R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16702	Fibronectin type-III 14.						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)			ATCTGTACTTCCTGAGCTCTT	0.413000														54			30		0	0	0.001512	0	0
NOM1	64434	broad.mit.edu	37	7	156752583	156752583	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:156752583C>T	uc003wmy.3	+	3	1362	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	449	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAGGAAGTTCGATGCCATCT	0.453000														23			38		0	0	0.002522	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394784	233394784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:233394784G>A	uc001hvl.2	-	4	1059	c.824C>T	c.(823-825)cCg>cTg	p.P275L	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	275						integral to membrane		p.P275P(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCCCCCACGGCTGGAAAGA	0.522000														37			13		0	0	0.001855	0	0
FAM47C	442444	broad.mit.edu	37	X	37026573	37026573	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:37026573C>T	uc004ddl.2	+	0	142	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	30								p.F30F(5)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGTACTTCGCGAAGCGCA	0.642000														1			8		0	0	0.000443	0	0
CCNL2	81669	broad.mit.edu	37	1	1333983	1333983	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1333983G>A	uc001afi.2	-	1	389	c.357C>T	c.(355-357)tcC>tcT	p.S119S	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Silent_p.S119S|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	119	Cyclin-like 1.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTACCTCCATGGAGTGCTTCA	0.478000														78			52		0	0	0.003610	0	0
C18orf54	162681	broad.mit.edu	37	18	51898902	51898902	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:51898902C>A	uc002lfo.4	+	4	1439	c.1393C>A	c.(1393-1395)Ctt>Att	p.L465I	C18orf54_uc002lfn.4_Missense_Mutation_p.L304I	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	304						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GTTATTTAACCTTCAAGCAGT	0.338000														80			42		5.44703e-19	1.14722e-18	0.002222	1	0
DAB1	1600	broad.mit.edu	37	1	57535040	57535040	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57535040A>T	uc009vzx.1	-	7	976	c.656T>A	c.(655-657)aTt>aAt	p.I219N	DAB1_uc001cyt.1_Missense_Mutation_p.I219N|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.I219N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	219					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TACCTGATAAATGTTTTCTTC	0.423000														76			49		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92534972	92534972	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92534972G>A	uc001pdj.4	+	8	8810	c.8793G>A	c.(8791-8793)ggG>ggA	p.G2931G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2931	Cadherin 27.				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)				TGTACCGAGGGAATGTGAAGG	0.537000										TCGA Ovarian(4;0.039)				258			146		0	0	0.003610	0	0
SELP	6403	broad.mit.edu	37	1	169581539	169581539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169581539C>T	uc001ggi.4	-	5	942	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SELP_uc001ggh.3_Missense_Mutation_p.E128K|SELP_uc009wvr.3_Missense_Mutation_p.E293K	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	293	Sushi 2.				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)	AATCCCTCTTCACAACTGAAG	0.527000														42			59		0	0	0.003610	0	0
SMYD1	150572	broad.mit.edu	37	2	88405849	88405849	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:88405849G>A	uc002ssr.3	+	7	1072	c.987G>A	c.(985-987)gtG>gtA	p.V329V	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Silent_p.V25V	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTAGGTTGTGAAATTATGCC	0.502000														28			16		0	0	0.001216	0	0
ZNF366	167465	broad.mit.edu	37	5	71739960	71739960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:71739960C>T	uc003kce.1	-	4	2044	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCTCCTCTTCCTCCTCGTGG	0.652000														18			49		0	0	0.003610	0	0
CWC15	51503	broad.mit.edu	37	11	94696570	94696570	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:94696570T>A	uc001pfd.4	-	7	790	c.667A>T	c.(667-669)Atg>Ttg	p.M223L		NM_016403	NP_057487	Q9P013	CWC15_HUMAN	Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae) (CWC15), mRNA.	224					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding|protein binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTCTCCATGAACTTTTTG	0.299000														14			8		0	0	0.000443	0	0
ZNF324	25799	broad.mit.edu	37	19	58983411	58983411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58983411C>T	uc002qsw.2	+	3	1697	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGCCTGCACCCCCAGGCCAG	0.706000														24			8		0	0	0.004482	0	0
LCA5L	150082	broad.mit.edu	37	21	40778104	40778104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:40778104C>T	uc002yxu.3	-	9	2030	c.1717G>A	c.(1717-1719)Ggg>Agg	p.G573R	LCA5L_uc002yxv.3_Missense_Mutation_p.G573R	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	573										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GGCTCATACCCACTGTCAGAA	0.458000														54			34		0	0	0.005524	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449125	104449125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:104449125G>A	uc004bbp.2	-	1	1658	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	GRIN3A_uc004bbq.1_Missense_Mutation_p.R353C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	353					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCACCCAACGAAGTTCAGGG	0.512000														3			22		0	0	0.002299	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136302972	136302973	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:136302972_136302973CC>TT	uc004cdv.4	+	12	1983_1984	c.1539_1540CC>TT	c.(1537-1542)ccccgg>ccTTgg	p.R514W	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R514W|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R483W|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R514W|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R483W|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.R184W|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	514					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAAGTGGCCCCCGGGAGGACGG	0.629000														18			60		0	0	0.004672	0	0
C6orf118	168090	broad.mit.edu	37	6	165715586	165715586	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	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														46			27		0	0	0.001271	0	0
ADAM28	10863	broad.mit.edu	37	8	24170995	24170995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:24170995C>T	uc003xdy.3	+	5	561	c.478C>T	c.(478-480)Cct>Tct	p.P160S	ADAM28_uc003xdx.3_Missense_Mutation_p.P160S|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	160					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)		CAAGTATAACCCTGATGAAAA	0.473000														12			53		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179635380	179635380	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179635380C>T	uc021vsy.1	-	34	8364	c.8139G>A	c.(8137-8139)ctG>ctA	p.L2713L	TTN_uc021vsz.1_Silent_p.L2667L|TTN_uc021vta.1_Silent_p.L2667L|TTN_uc021vtb.1_Silent_p.L2667L|TTN_uc002unb.2_Silent_p.L2713L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2713							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)			TGAGGTTCTTCAGAGTCTTCT	0.388000														53			40		0	0	0.001485	0	0
FOXP1	27086	broad.mit.edu	37	3	71021800	71021800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:71021800G>A	uc003dol.3	-	13	1881	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	FOXP1_uc003dom.3_Missense_Mutation_p.H444Y|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.H520Y|FOXP1_uc003doo.3_Missense_Mutation_p.H519Y|FOXP1_uc003dop.3_Missense_Mutation_p.H520Y|FOXP1_uc021xao.1_Intron|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Missense_Mutation_p.H420Y|FOXP1_uc003dok.3_Missense_Mutation_p.H446Y|FOXP1_uc003doj.3_Missense_Mutation_p.H522Y|FOXP1_uc003dor.1_Missense_Mutation_p.H297Y	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	520					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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.L519_C522delLHKC(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AAACACTTGTGAAGACTAAGA	0.383000			T	PAX5	ALL									31			19		0	0	0.001523	0	0
GEM	2669	broad.mit.edu	37	8	95262778	95262778	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:95262778G>A	uc003ygi.3	-	4	775	c.651C>T	c.(649-651)ttC>ttT	p.F217F	GEM_uc003ygj.3_Silent_p.F217F	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	217					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGGTCTCGATGAACTTGCAGT	0.547000														18			23		0	0	0.002299	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476147	156476147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156476147G>A	uc010jij.1	-	4	868	c.683C>T	c.(682-684)tCa>tTa	p.S228L	HAVCR1_uc011ddl.1_Missense_Mutation_p.S59L|HAVCR1_uc003lwi.2_Missense_Mutation_p.S228L|HAVCR1_uc021ygj.1_Missense_Mutation_p.S228L|HAVCR1_uc021ygk.1_Missense_Mutation_p.S59L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	223					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAAGATGGTGAAGTGGCTAC	0.438000														30			83		0	0	0.003610	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232669	12232669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12232669G>A	uc001rac.3	+	1	631	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.E144K|BCL2L14_uc001rae.3_Missense_Mutation_p.E144K	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	144					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CTTGGAGCATGAAGGTAGGCA	0.493000														50			28		0	0	0.001512	0	0
C1orf61	10485	broad.mit.edu	37	1	156374372	156374372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156374372G>A	uc001fou.1	-	6	718	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	BC016978_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Non-coding_Transcript|C1orf61_uc001fow.1_Non-coding_Transcript|C1orf61_uc001fox.1_Non-coding_Transcript	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	149						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					CCAACCAGATGAAGTACATTC	0.423000														42			19		0	0	0.001216	0	0
AGXT	189	broad.mit.edu	37	2	241815352	241815352	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241815352G>A	uc002waa.4	+	8	898	c.777_splice	c.e8-1	p.M259_splice	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	259					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGTCTTCCAGGTACCATCACA	0.612000														8			9		0	0	0.000443	0	0
SPEF2	79925	broad.mit.edu	37	5	35659301	35659301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35659301C>T	uc003jjo.3	+	7	1270	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R387*|SPEF2_uc003jjq.4_Nonsense_Mutation_p.R387*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	387					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)			TGCTCTTGATCGAGAAGCGGT	0.363000														35			18		0	0	0.001882	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005327	1005327	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1005327C>T	uc002lqo.1	+	2	1827	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	609					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGGCCGCAACCGCAGCACCG	0.667000														27			22		0	0	0.001882	0	0
CILP2	148113	broad.mit.edu	37	19	19653703	19653703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19653703C>T	uc002nmw.4	+	5	1002	c.917C>T	c.(916-918)tCc>tTc	p.S306F	CILP2_uc002nmv.4_Missense_Mutation_p.S300F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	300	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CACCCTGAGTCCCGAGTGCGA	0.602000														49			33		0	0	0.001287	0	0
C7orf58	79974	broad.mit.edu	37	7	120764413	120764413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:120764413G>A	uc003vjq.4	+	7	1394	c.947G>A	c.(946-948)aGa>aAa	p.R316K	C7orf58_uc003vjr.1_Missense_Mutation_p.R316K|C7orf58_uc003vjs.4_Missense_Mutation_p.R316K|C7orf58_uc003vjt.4_Missense_Mutation_p.R96K|C7orf58_uc010lkk.2_Missense_Mutation_p.R96K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	316						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ACATTCCTGAGAGCCAGTTCA	0.408000														51			72		0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197184562	197184562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:197184562G>A	uc002utm.1	-	8	1235	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	351					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.S350S(1)|p.P351S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTCATCGGAAGGGCTACCTAA	0.493000														24			12		0	0	0.000978	0	0
MYO15A	51168	broad.mit.edu	37	17	18042907	18042907	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:18042907C>T	uc021trm.1	+	17	5412	c.5193C>T	c.(5191-5193)ttC>ttT	p.F1731F	MYO15A_uc021trl.1_Silent_p.F1729F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1731	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)					TGGACCTGTTCGTACGGAGCC	0.637000														5			15		0	0	0.004007	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904187	21904187	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:21904187C>T	uc002gza.2	+	0		c.126C>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gcatcccagcctcaggcctgc	0.672000														26			4		0	0	0.001984	0	0
OR52B2	255725	broad.mit.edu	37	11	6190685	6190685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6190685G>A	uc010qzy.2	-	0	872	c.872C>T	c.(871-873)cCc>cTc	p.P291L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGACAATGGGGTTCAGCAT	0.473000														29			29		0	0	0.005443	0	0
NYAP2	57624	broad.mit.edu	37	2	226447152	226447152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:226447152C>T	uc002voe.2	+	3	1194	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P110L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	340	Pro-rich.							p.P340L(1)									CTGGTATTTCCCCCCGCCCCC	0.627000														11			11		0	0	0.000978	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065146	63065146	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63065146A>C	uc009yor.3	+	3	985	c.777A>C	c.(775-777)caA>caC	p.Q259H	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	259						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGACTGGCAAACCCTGCACG	0.483000														56			29		0	0	0.001786	0	0
DMBX1	127343	broad.mit.edu	37	1	46977753	46977753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:46977753G>A	uc001cpx.3	+	3	751	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	DMBX1_uc001cpw.3_Missense_Mutation_p.G241R	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	246					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGCCCCAGGGGGTGGCCT	0.627000														73			55		0	0	0.003610	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013000	73013000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:73013000C>T	uc003hgg.2	+	3	1138	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	NPFFR2_uc010iig.2_Missense_Mutation_p.S129L|NPFFR2_uc003hgi.2_Missense_Mutation_p.S248L|NPFFR2_uc003hgh.2_Missense_Mutation_p.S245L	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	347					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATTGGAATTTCACTCTTCAGG	0.488000														34			17		0	0	0.001216	0	0
COL4A4	1286	broad.mit.edu	37	2	227963448	227963449	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227963448_227963449GG>AA	uc021vxr.1	-	17	1266_1267	c.1165_1166CC>TT	c.(1165-1167)ccc>TTc	p.P389F	COL4A4_uc021vxs.1_Missense_Mutation_p.P389F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	389	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAGACCTGGGGGACCAGGTGGT	0.554000														26			11		0	0	0.004672	0	0
LZIC	84328	broad.mit.edu	37	1	9994837	9994837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9994837G>A	uc010oah.2	-	4	450	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	LZIC_uc001aqm.3_Missense_Mutation_p.R107W|LZIC_uc001aqo.3_Missense_Mutation_p.R107W|LZIC_uc009vmr.3_Missense_Mutation_p.R107W	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	107							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		AACCTTGTCCGAAGCTGACCT	0.398000														171			112		0	0	0.003610	0	0
NLRP5	126206	broad.mit.edu	37	19	56539526	56539526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56539526G>A	uc002qmj.3	+	6	1927	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	NLRP5_uc002qmi.3_Missense_Mutation_p.E624K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	643						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)		CCTCGTGAGCGAAGACGTAAG	0.557000														34			17		0	0	0.004007	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549448	32549448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32549448C>T	uc003obp.4	-	2	632	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Missense_Mutation_p.G10R|HLA-DRB5_uc011dqc.1_Missense_Mutation_p.G10R	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	180	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GTCCAGTCTCCATTCTGGATC	0.552000														64			8		0	0	0.002780	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674035	35674035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:35674035G>A	uc003tes.4	-	7	1605	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	HERPUD2_uc003tet.3_Nonsense_Mutation_p.Q316*	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	316					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CATCCAGCTTGGTGTCTGTTC	0.343000														29			26		0	0	0.001271	0	0
CACNA1C	775	broad.mit.edu	37	12	2786382	2786382	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:2786382C>T	uc009zdu.1	+	41	5408	c.5095C>T	c.(5095-5097)Ctg>Ttg	p.L1699L	CACNA1C_uc001qkc.2_Silent_p.L1670L|CACNA1C_uc001qjz.2_Silent_p.L1651L|CACNA1C_uc001qkd.2_Silent_p.L1670L|CACNA1C_uc001qke.2_Silent_p.L1640L|CACNA1C_uc001qkf.2_Silent_p.L1659L|CACNA1C_uc009zdw.1_Silent_p.L1692L|CACNA1C_uc001qkg.2_Silent_p.L1657L|CACNA1C_uc001qkh.2_Silent_p.L1659L|CACNA1C_uc001qkl.2_Silent_p.L1699L|CACNA1C_uc001qkj.2_Silent_p.L1651L|CACNA1C_uc001qkk.2_Silent_p.L1651L|CACNA1C_uc001qkn.2_Silent_p.L1651L|CACNA1C_uc001qkm.2_Silent_p.L1640L|CACNA1C_uc001qko.2_Silent_p.L1671L|CACNA1C_uc001qkp.2_Silent_p.L1651L|CACNA1C_uc001qkq.2_Silent_p.L1679L|CACNA1C_uc001qku.2_Silent_p.L1651L|CACNA1C_uc001qkr.2_Silent_p.L1668L|CACNA1C_uc001qks.2_Silent_p.L1651L|CACNA1C_uc001qkt.2_Silent_p.L1670L|CACNA1C_uc009zdv.1_Silent_p.L1648L|CACNA1C_uc001qkb.2_Silent_p.L1651L|CACNA1C_uc001qki.1_Silent_p.L1387L|CACNA1C_uc010sea.1_Silent_p.L342L|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1699					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)	CGCGCTGTCTCTGCAGGTGAG	0.637000														12			11		0	0	0.001855	0	0
ADAP2	55803	broad.mit.edu	37	17	29283361	29283361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:29283361G>A	uc010csk.3	+	9	1282	c.1003G>A	c.(1003-1005)Gga>Aga	p.G335R	ADAP2_uc002hfy.3_Missense_Mutation_p.G328R|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.G329R	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	329	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTGGAAAGCCGGACTCACCAT	0.562000														10			30		0	0	0.001271	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701033	60701033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60701033C>T	uc001nqi.3	+	7	1572	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	TMEM132A_uc001nqj.3_Missense_Mutation_p.A459V|TMEM132A_uc001nqk.3_Missense_Mutation_p.A472V|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	459						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCTGTGATGCCGTGTTCGTG	0.701000														19			10		0	0	0.001368	0	0
KCNA4	3739	broad.mit.edu	37	11	30032811	30032811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30032811C>T	uc021qfi.1	-	0	1415	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	KCNA4_uc001msk.3_Missense_Mutation_p.R472K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	472						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CATGCTGGCTCTGAGGGTGTG	0.522000														34			14		0	0	0.002450	0	0
CALCRL	10203	broad.mit.edu	37	2	188216659	188216659	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188216659G>A	uc010frt.3	-	12	1541	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CALCRL_uc002upv.4_Silent_p.F386F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	386						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTCCATTAAAGAAGCAGAAAA	0.269000														16			19		0	0	0.002780	0	0
VSNL1	7447	broad.mit.edu	37	2	17773486	17773486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:17773486C>T	uc002rcm.3	+	1	529	c.145C>T	c.(145-147)Cag>Tag	p.Q49*		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	49	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGAGGAATTTCAGCAGCTCTA	0.413000														60			35		0	0	0.005524	0	0
RFPL3	10738	broad.mit.edu	37	22	32754371	32754371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32754371G>A	uc003amj.3	+	0	518	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RFPL3_uc010gwn.3_Missense_Mutation_p.E76K	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	105							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCACATCAAGGAACTGGAGCC	0.517000														37			35		0	0	0.003755	0	0
NCOA6	23054	broad.mit.edu	37	20	33345550	33345550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33345550G>A	uc002xav.3	-	7	3572	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	NCOA6_uc002xaw.3_Missense_Mutation_p.S334F|NCOA6_uc021wcd.1_Missense_Mutation_p.S334F|NCOA6_uc021wce.1_Missense_Mutation_p.S334F|NCOA6_uc021wcf.1_Missense_Mutation_p.S334F|NCOA6_uc010gew.1_Missense_Mutation_p.S291F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	334	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGCCCAGAGAACCCTGGGC	0.587000														31			54		0	0	0.003610	0	0
CCDC110	256309	broad.mit.edu	37	4	186381301	186381301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:186381301C>T	uc003ixu.4	-	5	516	c.440G>A	c.(439-441)aGt>aAt	p.S147N	CCDC110_uc003ixv.4_Missense_Mutation_p.S110N|CCDC110_uc011ckt.1_Missense_Mutation_p.S147N	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	147						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ACTATCACCACTTAATTTTTC	0.373000														52			29		0	0	0.001512	0	0
DNAH9	1770	broad.mit.edu	37	17	11535903	11535903	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:11535903G>A	uc002gne.3	+	8	1587	c.1519_splice	c.e8-1	p.D507_splice		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	507	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)		TGTCTCTTCAGGACTTTGAAA	0.383000														13			35		0	0	0.001485	0	0
WDR44	54521	broad.mit.edu	37	X	117576579	117576579	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:117576579T>A	uc004eqn.3	+	16	2751	c.2320T>A	c.(2320-2322)Ttg>Atg	p.L774M	WDR44_uc004eqo.3_Missense_Mutation_p.L774M|WDR44_uc011mtr.2_Missense_Mutation_p.L685M|WDR44_uc010nqi.3_Missense_Mutation_p.L484M	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	774						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTGAGAGATTTGTCACTATC	0.343000														9			34		0	0	0.001706	0	0
ATP10A	57194	broad.mit.edu	37	15	25924663	25924663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25924663G>A	uc010ayu.3	-	20	4431	c.4325C>T	c.(4324-4326)tCc>tTc	p.S1442F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1442					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGACCAGGAGGAAATCCAGTT	0.607000														13			11		0	0	0.000673	0	0
OR4C15	81309	broad.mit.edu	37	11	55322523	55322523	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55322523C>T	uc010rig.2	+	0	741	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H246N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATACTCACATCTTTGGCCTCA	0.448000										HNSCC(20;0.049)				31			13		0	0	0.001368	0	0
PCDH17	27253	broad.mit.edu	37	13	58207617	58207617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:58207617G>A	uc001vhq.1	+	0	1829	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	PCDH17_uc010aec.1_Missense_Mutation_p.E313K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGACTATGAGGAAAACGGGAT	0.587000														19			12		0	0	0.001368	0	0
POLR2A	5430	broad.mit.edu	37	17	7416841	7416841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7416841C>T	uc002ghf.4	+	28	5644	c.5258C>T	c.(5257-5259)cCc>cTc	p.P1753L		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1753	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAACCAGTCCCAATTACACC	0.542000														22			102		0	0	0.003610	0	0
CNTN1	1272	broad.mit.edu	37	12	41410657	41410657	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41410657C>T	uc001rmm.1	+	18	2471	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A	CNTN1_uc001rmn.1_Silent_p.A775A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	786	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.K785N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGTCAAGGCCTTCAACAACA	0.428000														32			19		0	0	0.000958	0	0
FRMD4B	23150	broad.mit.edu	37	3	69360444	69360444	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:69360444T>A	uc003dnv.2	-	2	583	c.293A>T	c.(292-294)gAg>gTg	p.E98V	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Missense_Mutation_p.E44V|FRMD4B_uc003dny.3_Missense_Mutation_p.E98V	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	98	FERM.					cytoplasm|cytoskeleton	binding	p.T98>?(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCCAAAATACTCCTTTTCTTT	0.368000														19			16		0	0	0.004990	0	0
COL8A1	1295	broad.mit.edu	37	3	99513301	99513301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:99513301G>A	uc003dti.1	+	2	687	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.E186K|COL8A1_uc003dth.1_Missense_Mutation_p.E186K	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	186	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACAGAAAGGGGAAATTGGGCC	0.587000														22			8		0	0	0.004482	0	0
C19orf18	147685	broad.mit.edu	37	19	58472857	58472857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58472857G>A	uc002qqv.3	-	4	536	c.434C>T	c.(433-435)cCg>cTg	p.P145L		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	145						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCCTAATAACGGTATCCTGAG	0.453000														42			30		0	0	0.001512	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111038	7111038	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7111038G>A	uc001mfc.2	+	0	874	c.687G>A	c.(685-687)cgG>cgA	p.R229R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	229	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGAACCCCGGGGTTTTGCCC	0.697000														3			6		0	0	0.001168	0	0
C2orf62	375307	broad.mit.edu	37	2	219222789	219222789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219222789G>A	uc002vhr.3	+	3	378	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	117										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCTCATGGAACAGCACAG	0.532000														50			30		0	0	0.001786	0	0
WDR96	80217	broad.mit.edu	37	10	105945764	105945764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105945764C>T	uc001kxw.3	-	14	2094	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.G661R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	660										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACAGAATTCCACATTTAGCT	0.338000														65			29		0	0	0.001512	0	0
PSMC4	5704	broad.mit.edu	37	19	40480235	40480235	+	Silent	SNP	C	T	T	rs138214626		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:40480235C>T	uc002omq.3	+	3	394	c.357C>T	c.(355-357)atC>atT	p.I119I	PSMC4_uc002omr.3_Silent_p.I88I	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	119					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAGCACCATCGATCGGGAGC	0.597000														32			11		0	0	0.001855	0	0
P2RX4	5025	broad.mit.edu	37	12	121654979	121654979	+	Silent	SNP	C	A	A	rs144412132		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121654979C>A	uc001tzr.3	+	1	481	c.177C>A	c.(175-177)tcC>tcA	p.S59S	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Non-coding_Transcript|P2RX4_uc009zxc.3_Silent_p.S59S|P2RX4_uc010szt.2_Intron|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	59					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAACTGACTCCGTGGTCAGCT	0.463000														209			160		1.75869e-58	3.71538e-58	0.003610	1	0
LMBRD2	92255	broad.mit.edu	37	5	36142664	36142664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36142664G>A	uc003jkb.1	-	2	627	c.212C>T	c.(211-213)tCa>tTa	p.S71L		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	71						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAGGGCTTGAATTTGCAGC	0.363000														71			50		0	0	0.003610	0	0
NBPF1	55672	broad.mit.edu	37	1	16892227	16892227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16892227G>A	uc009vos.1	-	26	3853	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	989	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAACTGGAAGGAGTTGAATAA	0.473000														879			33		0	0	0.005524	0	0
SDC3	9672	broad.mit.edu	37	1	31346183	31346183	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:31346183A>C	uc001bse.2	-	4	1251	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V	SDC3_uc001bsd.2_Missense_Mutation_p.F344V	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	402						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACCAAGAAGGCAGCAAAG	0.577000														38			13		0	0	0.002450	0	0
IL7R	3575	broad.mit.edu	37	5	35875626	35875626	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35875626C>T	uc003jjs.3	+	6	902	c.813C>T	c.(811-813)atC>atT	p.I271I	IL7R_uc011coo.2_Missense_Mutation_p.S240L|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	271					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTAAGCCTATCGTATGGCCCA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							26			26		0	0	0.001786	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004780	20004780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:20004780C>T	uc011kyq.2	-	15	1924	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC18A1_uc003wzm.3_Missense_Mutation_p.E485K|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Missense_Mutation_p.E453K|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	485					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGCTTCTCTTCCTTTGCCGGG	0.488000														7			16		0	0	0.000958	0	0
LRP1B	53353	broad.mit.edu	37	2	141294168	141294168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141294168C>T	uc002tvj.1	-	45	8596	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2542	LDL-receptor class A 11.				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)		AGCAGTTTTTCATCTGATTTA	0.418000										TSP Lung(27;0.18)				39			29		0	0	0.001786	0	0
CCNA1	8900	broad.mit.edu	37	13	37011835	37011835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:37011835C>T	uc001uvr.4	+	2	717	c.367C>T	c.(367-369)Cct>Tct	p.P123S	CCNA1_uc010teo.2_Missense_Mutation_p.P79S|CCNA1_uc010abq.3_Missense_Mutation_p.P79S|CCNA1_uc010abp.3_Missense_Mutation_p.P79S|CCNA1_uc001uvs.4_Missense_Mutation_p.P122S|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	123					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.P123>S(2)|p.L122L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GAAAGCACTCCCTGACTGTGG	0.493000														32			39		0	0	0.005524	0	0
EPPK1	83481	broad.mit.edu	37	8	144945175	144945175	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144945175G>A	uc003zaa.1	-	0	2260	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	749						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATCTGATCGAAGTAGCCGC	0.642000														81			33		0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9048182	9048182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9048182C>T	uc002mkp.3	-	4	33653	c.33449G>A	c.(33448-33450)gGa>gAa	p.G11150E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11152	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						GGTCACCATTCCTGGTACCTC	0.468000														28			23		0	0	0.004656	0	0
MARCH10	162333	broad.mit.edu	37	17	60814521	60814521	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:60814521G>A	uc010dds.3	-	6	1107	c.822C>T	c.(820-822)tcC>tcT	p.S274S	MARCH10_uc010ddr.3_Silent_p.S236S|MARCH10_uc002jag.4_Silent_p.S236S|MARCH10_uc002jah.2_Silent_p.S235S|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	236							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAAGGCCTGGGACAGGGCTG	0.537000														20			82		0	0	0.003610	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	A	A	rs141686243		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:66963846G>A	uc003xvs.1	+	2	355	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(4)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000														31			62		0	0	0.003610	0	0
IKZF1	10320	broad.mit.edu	37	7	50468158	50468158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:50468158G>A	uc003tow.4	+	7	1548	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	IKZF1_uc022acq.1_Missense_Mutation_p.E322K|IKZF1_uc003tpa.4_Missense_Mutation_p.E230K|IKZF1_uc022acr.1_Missense_Mutation_p.E240K|IKZF1_uc022acs.1_Missense_Mutation_p.E195K|IKZF1_uc022act.1_Missense_Mutation_p.E368K|IKZF1_uc022acu.1_Missense_Mutation_p.E378K|IKZF1_uc003tox.4_Missense_Mutation_p.E423K|IKZF1_uc022acv.1_Missense_Mutation_p.E326K|IKZF1_uc022acw.1_Missense_Mutation_p.E336K|IKZF1_uc022acx.1_Missense_Mutation_p.E378K|IKZF1_uc022acy.1_Missense_Mutation_p.E272K|IKZF1_uc022acz.1_Missense_Mutation_p.E282K|IKZF1_uc011kck.2_Missense_Mutation_p.E378K|IKZF1_uc003toy.4_Missense_Mutation_p.E423K|IKZF1_uc003toz.4_Missense_Mutation_p.E435K|IKZF1_uc010kyx.3_Missense_Mutation_p.E205K	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	465					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTACAAGTGCGAACACTGCCG	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""									9			7		0	0	0.003080	0	0
MLXIP	22877	broad.mit.edu	37	12	122618397	122618397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:122618397C>T	uc001ubq.3	+	8	1703	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	MLXIP_uc001ubr.3_Missense_Mutation_p.P283L|MLXIP_uc001ubs.1_Missense_Mutation_p.P139L|MLXIP_uc001ubt.3_Missense_Mutation_p.P139L	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACCCGGCCTCCCCAGCCACGG	0.612000														9			4		0	0	0.001168	0	0
C14orf39	317761	broad.mit.edu	37	14	60903606	60903606	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:60903606A>T	uc001xez.4	-	17	1831	c.1721T>A	c.(1720-1722)tTt>tAt	p.F574Y	C14orf39_uc010apo.3_Missense_Mutation_p.F285Y	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	574										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGAAGATGAAAAACCTTTTAA	0.303000														41			152		0	0	0.003610	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552139	57552139	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:57552139C>T	uc002elw.3	-	5	1302	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	363										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGTCTCCAGCCGCTCCCGGC	0.697000														68			35		0	0	0.001706	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448024	24448024	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24448024G>A	uc001biq.2	-	6	1199	c.996C>T	c.(994-996)atC>atT	p.I332I	IL22RA1_uc010oeg.1_Silent_p.I264I|IL22RA1_uc009vrb.2_Silent_p.I196I|IL22RA1_uc010oeh.2_Silent_p.I332I	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	332						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGAGGATGGAGATGTCTGGCT	0.632000														19			28		0	0	0.001786	0	0
C9orf129	445577	broad.mit.edu	37	9	96097807	96097807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:96097807G>A	uc010mre.3	-	2	578	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	Homo sapiens chromosome 9 open reading frame 129 (C9orf129), mRNA.	72										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						TTCCCTTCGTGAGGAATGTTG	0.607000														3			16		0	0	0.005443	0	0
OR5M1	390168	broad.mit.edu	37	11	56380594	56380594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56380594G>A	uc001nja.1	-	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TAATGCAAAGGGCTGCAAATG	0.463000														37			16		0	0	0.000958	0	0
SPAG7	9552	broad.mit.edu	37	17	4862935	4862935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4862935G>A	uc002gae.3	-	6	611	c.578C>T	c.(577-579)cCc>cTc	p.P193L	SPAG7_uc002gaf.3_3'UTR	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	193						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATTGGCCACGGGCACTAGGGG	0.612000														8			44		0	0	0.002222	0	0
NEB	4703	broad.mit.edu	37	2	152500515	152500515	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152500515C>T	uc021vrb.1	-	54	7802	c.7773G>A	c.(7771-7773)aaG>aaA	p.K2591K	NEB_uc002txu.3_Silent_p.K2591K|NEB_uc021vrc.1_Silent_p.K2591K|NEB_uc010fnx.3_Silent_p.K2591K|NEB_uc021vrd.1_Silent_p.K2591K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2591					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCAAAGTCCTTCTTGTACT	0.542000														139			104		0	0	0.003610	0	0
PATZ1	23598	broad.mit.edu	37	22	31740815	31740815	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:31740815G>A	uc003akq.3	-	0	1435	c.774C>T	c.(772-774)gcC>gcT	p.A258A	PATZ1_uc003akp.3_Silent_p.A258A|PATZ1_uc003akr.3_Silent_p.A258A|PATZ1_uc003aks.3_Silent_p.A258A|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	258					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TCAGGGGAGGGGCACTGGATG	0.657000														9			3		0	0	0.004672	0	0
SDK2	54549	broad.mit.edu	37	17	71410810	71410810	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:71410810G>A	uc010dfm.3	-	17	2457	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	SDK2_uc010dfn.2_Silent_p.F498F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	819	Fibronectin type-III 3.				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						TGCCGTTGATGAACTGGGGGC	0.602000														5			35		0	0	0.002222	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175935	207175935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:207175935C>T	uc002vbp.2	+	4	6933	c.6683C>T	c.(6682-6684)tCg>tTg	p.S2228L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGTATATTTCGAAATACTCT	0.358000														20			17		0	0	0.000743	0	0
PCDH15	65217	broad.mit.edu	37	10	55587287	55587287	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55587287C>T	uc010qhy.1	-	32	4643	c.4248G>A	c.(4246-4248)aaG>aaA	p.K1416K	PCDH15_uc010qhq.2_Silent_p.K1416K|PCDH15_uc010qhr.2_Silent_p.K1411K|PCDH15_uc021pqv.1_Silent_p.K1411K|PCDH15_uc021pqw.1_Silent_p.K1423K|PCDH15_uc010qht.2_Silent_p.K1418K|PCDH15_uc021pqx.1_Silent_p.K1411K|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.K1411K|PCDH15_uc021pqz.1_Silent_p.K1386K|PCDH15_uc010qhv.1_Silent_p.K1408K|PCDH15_uc010qhw.1_Silent_p.K1371K|PCDH15_uc010qhx.1_Silent_p.K1340K|PCDH15_uc010qhz.1_Silent_p.K1411K|PCDH15_uc010qia.1_Silent_p.K1389K|PCDH15_uc001jju.1_Silent_p.K1411K|PCDH15_uc010qib.1_Silent_p.K1386K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1411					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)				TTCGTGCAGTCTTTGTACACT	0.527000										HNSCC(58;0.16)				40			26		0	0	0.001271	0	0
TRPC3	7222	broad.mit.edu	37	4	122853464	122853464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:122853464C>T	uc003ieg.2	-	1	1023	c.949G>A	c.(949-951)Gag>Aag	p.E317K	TRPC3_uc010inr.2_Missense_Mutation_p.E244K|TRPC3_uc003ief.2_Missense_Mutation_p.E244K|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.	232					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						TTGGCCAGCTCGTTGCTGAGC	0.607000														9			12		0	0	0.002450	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531413	140531413	+	Silent	SNP	C	T	T	rs144225778		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140531413C>T	uc003lir.3	+	0	1575	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S524A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCTTTCGAGTTCCGCG	0.672000														23			5		0	0	0.001168	0	0
RNPEP	6051	broad.mit.edu	37	1	201974754	201974754	+	Silent	SNP	C	A	A	rs145130543		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201974754C>A	uc001gxd.3	+	10	1892	c.1863C>A	c.(1861-1863)ctC>ctA	p.L621L	ELF3_uc001gxg.4_5'Flank|RNPEP_uc001gxe.3_Silent_p.L322L	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	621					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CCCAGACCCTCGCCAAGGAGA	0.542000														40			44		1.23103e-26	2.59747e-26	0.003214	1	0
PROX2	283571	broad.mit.edu	37	14	75323699	75323699	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:75323699C>T	uc021rwo.1	-	4	1414	c.1414_splice	c.e4-1	p.F472_splice	PROX2_uc001xqp.2_Splice_Site_p.F470_splice|PROX2_uc001xqq.2_Splice_Site_p.F245_splice	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGCGGTTGAACTGTACAAACA	0.448000														28			120		0	0	0.003610	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:214878736C>T	uc002veq.3	+	12	1554	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_uc010fuz.2_Missense_Mutation_p.P339S|SPAG16_uc002ver.3_Missense_Mutation_p.P434S|SPAG16_uc010zjk.2_Missense_Mutation_p.P394S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000														61			50		0	0	0.003610	0	0
TACR3	6870	broad.mit.edu	37	4	104640704	104640704	+	Silent	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:104640704T>C	uc003hxe.1	-	0	270	c.129A>G	c.(127-129)caA>caG	p.Q43Q		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	43						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)		GGTCCAGCAGTTGCAGCCACC	0.701000														17			21		0	0	0.003954	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564327	140564327	+	Silent	SNP	C	T	T	rs17844667		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140564327C>T	uc003liv.3	+	0	3348	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGGGCCCCTTTCCAGGGC	0.637000														16			43		0	0	0.003214	0	0
TNPO2	30000	broad.mit.edu	37	19	12826134	12826134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12826134G>A	uc002mup.3	-	5	1309	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	TNPO2_uc002muq.3_Missense_Mutation_p.H191Y|TNPO2_uc002muo.3_Missense_Mutation_p.H191Y|TNPO2_uc002mur.3_Missense_Mutation_p.H191Y	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	191					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGATGGCGTGGGACCTGGCG	0.667000														10			11		0	0	0.000673	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786525	121786525	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:121786525A>C	uc003ksw.1	+	9	2189	c.1983A>C	c.(1981-1983)gaA>gaC	p.E661D	SNCAIP_uc011cwl.1_Missense_Mutation_p.E219D|SNCAIP_uc003ksy.1_Missense_Mutation_p.E295D|SNCAIP_uc003ksx.1_Missense_Mutation_p.E708D|SNCAIP_uc003ksz.1_Missense_Mutation_p.E295D|SNCAIP_uc010jcu.2_Missense_Mutation_p.E257D|SNCAIP_uc011cwm.1_Missense_Mutation_p.E295D|SNCAIP_uc003kta.1_Missense_Mutation_p.E293D|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E355D|SNCAIP_uc010jcx.1_Missense_Mutation_p.E601D|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E177D	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(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)		AGAAGAGGGAACTGAAGTTAG	0.493000														5			11		0	0	0.000978	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179545	134179545	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:134179545C>T	uc009zdf.3	+	10	1347	c.987C>T	c.(985-987)ttC>ttT	p.F329F	GLB1L3_uc010scu.1_Silent_p.F30F|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	329					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGTCTGAATTCATCAAATATG	0.428000														13			6		0	0	0.003080	0	0
COL5A2	1290	broad.mit.edu	37	2	189907887	189907887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189907887G>A	uc002uqk.3	-	47	3736	c.3461C>T	c.(3460-3462)cCt>cTt	p.P1154L	COL5A2_uc010frx.3_Missense_Mutation_p.P730L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1154					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGAGGGCCAGGAAGACCCTG	0.473000														20			10		0	0	0.000673	0	0
TAAR2	9287	broad.mit.edu	37	6	132939236	132939236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:132939236C>T	uc003qdl.1	-	1	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TAAR2_uc010kfr.1_5'Flank	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	37						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGAGATCTTTCATTTTCTGGG	0.328000														43			26		0	0	0.001061	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717056	222717057	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:222717056_222717057GG>TT	uc001hnh.1	-	1	854_855	c.796_797CC>AA	c.(796-798)cca>AAa	p.P266K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	266					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCGATCCATGGGGTGGTCAAC	0.530000														402			9		0	0	0.004672	0	0
C9orf106	414318	broad.mit.edu	37	9	132084114	132084114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:132084114G>A	uc004bxs.2	+	1	75	c.22G>A	c.(22-24)Gat>Aat	p.D8N		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA.	8										large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				gGCCTTGAGCGATAAACCTCA	0.612000														2			34		0	0	0.004289	0	0
NUP98	4928	broad.mit.edu	37	11	3735138	3735138	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:3735138G>A	uc001lyh.3	-	18	2908	c.2487C>T	c.(2485-2487)atC>atT	p.I829I	NUP98_uc001lyi.3_Silent_p.I829I|NUP98_uc001lyj.2_Silent_p.I829I|NUP98_uc001lyk.2_Silent_p.I846I	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	846	Peptidase S59.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCATAGTTGATATCAGCAA	0.403000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									29			25		0	0	0.003954	0	0
MYO9B	4650	broad.mit.edu	37	19	17265205	17265205	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17265205C>T	uc010eak.3	+	5	1331	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	MYO9B_uc002nfi.3_Silent_p.F393F|MYO9B_uc002nfj.1_Silent_p.F393F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	393	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGTGGGCTTCCTCCCCGCCA	0.582000														35			26		0	0	0.001061	0	0
ZNF700	90592	broad.mit.edu	37	19	12089716	12089716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12089716C>T	uc010xmf.2	+	3	1163	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	ZNF700_uc002msv.3_Missense_Mutation_p.S329F|ZNF700_uc002msw.3_Missense_Mutation_p.S326F|ZNF700_uc010xmg.2_Missense_Mutation_p.S204F	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTTACAGATCCTATCTTAGA	0.403000														40			25		0	0	0.002780	0	0
PHF20L1	51105	broad.mit.edu	37	8	133806708	133806708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133806708C>T	uc003ytt.3	+	2	461	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	PHF20L1_uc003ytr.3_Missense_Mutation_p.H46Y|PHF20L1_uc010mdv.3_Missense_Mutation_p.H46Y|PHF20L1_uc003yts.3_Missense_Mutation_p.H46Y|PHF20L1_uc011lja.2_Missense_Mutation_p.H46Y|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	46	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGTTGGTCCATTTTGAGCG	0.383000														45			19		0	0	0.001216	0	0
CIDEA	1149	broad.mit.edu	37	18	12254390	12254390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:12254390C>T	uc002kqt.4	+	0	73	c.8C>T	c.(7-9)gCc>gTc	p.A3V	CIDEA_uc002kqu.4_5'UTR|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	3					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCCATGGAGGCCGCCCGGGAC	0.706000														3			8		0	0	0.000673	0	0
C6	729	broad.mit.edu	37	5	41181500	41181500	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41181500A>T	uc003jmk.2	-	6	1098	c.888T>A	c.(886-888)aaT>aaA	p.N296K	C6_uc003jml.1_Missense_Mutation_p.N296K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	296	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGAAGGCAGAATTATGGTTGA	0.348000														81			52		0	0	0.003610	0	0
RPTOR	57521	broad.mit.edu	37	17	78796094	78796094	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:78796094C>T	uc002jyt.1	+	7	1789	c.984C>T	c.(982-984)ctC>ctT	p.L328L	RPTOR_uc002jys.3_Silent_p.L328L|RPTOR_uc010wuf.1_Silent_p.L143L|RPTOR_uc010wug.1_Silent_p.L328L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	328					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						GGAACGTGCTCCCCCGGGGTG	0.642000														14			84		0	0	0.003610	0	0
CYP46A1	10858	broad.mit.edu	37	14	100172986	100172986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:100172986C>T	uc001ygo.3	+	5	446	c.446C>T	c.(445-447)tCc>tTc	p.S149F	CYP46A1_uc001ygn.1_Missense_Mutation_p.S111F|CYP46A1_uc001ygp.3_5'UTR	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	149					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTCTCCAGCTCCTTGGTTAGC	0.552000														9			45		0	0	0.003610	0	0
MRPL23	6150	broad.mit.edu	37	11	1972180	1972180	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1972180C>G	uc001lux.3	+	1	160	c.69C>G	c.(67-69)aaC>aaG	p.N23K		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	23					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCGAACCAACTTCTTCATTC	0.617000														13			8		0	0	0.003080	0	0
NGEF	25791	broad.mit.edu	37	2	233839538	233839538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:233839538C>T	uc002vts.2	-	1	311	c.63G>A	c.(61-63)tgG>tgA	p.W21*		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	21	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TATCAGTGTTCCATTGATCAC	0.453000														60			33		0	0	0.002836	0	0
OR6C2	341416	broad.mit.edu	37	12	55846192	55846192	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55846192C>T	uc001sgz.1	+	0	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAATTTTTCCTTCTTAGAAG	0.398000														50			33		0	0	0.003271	0	0
DCST2	127579	broad.mit.edu	37	1	155005603	155005603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155005603C>T	uc001fgm.3	-	1	486	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTAGCACTTCGGCGGTCTGG	0.622000														8			4		0	0	0.000248	0	0
FBN2	2201	broad.mit.edu	37	5	127713525	127713525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:127713525C>T	uc003kuu.3	-	12	2208	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	FBN2_uc003kuv.2_Missense_Mutation_p.R557Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	590	EGF-like 8; 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)		GTTCACGCATCGACCGTTTTT	0.393000														31			62		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3200966	3200966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:3200966C>T	uc022aqr.1	-	22	3871	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N	CSMD1_uc011kwj.2_Missense_Mutation_p.D554N|CSMD1_uc003wqe.3_Missense_Mutation_p.D318N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1162	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTTTCCATCATATACCTGA	0.418000														3			19		0	0	0.000743	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902757	4902757	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4902757C>T	uc002mbm.3	-	0	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	41					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GGGTTAAGATCACCTGCCCTT	0.562000														55			28		0	0	0.001061	0	0
DEFA5	1670	broad.mit.edu	37	8	6912991	6912991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:6912991C>T	uc003wra.1	-	1	287	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	83					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCACTGATTTCACACACCCCG	0.527000														3			19		0	0	0.002780	0	0
VPS52	6293	broad.mit.edu	37	6	33236869	33236869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33236869C>T	uc003odm.1	-	5	680	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	VPS52_uc003odn.1_Missense_Mutation_p.R32Q|VPS52_uc003odo.1_Missense_Mutation_p.R82Q|VPS52_uc011dqy.1_Missense_Mutation_p.R32Q|VPS52_uc011dqz.1_Missense_Mutation_p.R32Q|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	157					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTCGAAGTCGAATGTTCAT	0.537000														55			40		0	0	0.001485	0	0
BPIFC	254240	broad.mit.edu	37	22	32829741	32829741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32829741G>A	uc003amn.2	-	8	943	c.943C>T	c.(943-945)Caa>Taa	p.Q315*	BPIFC_uc010gwo.2_Nonsense_Mutation_p.Q129*|BPIFC_uc011amb.1_Nonsense_Mutation_p.Q39*	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	315						extracellular region	lipopolysaccharide binding|phospholipid binding										TGAGAGTTTTGAACAAAATGG	0.408000														31			28		0	0	0.002445	0	0
FMN2	56776	broad.mit.edu	37	1	240371804	240371804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240371804G>A	uc010pye.2	+	5	3929	c.3704G>A	c.(3703-3705)gGa>gAa	p.G1235E	FMN2_uc010pyd.2_Missense_Mutation_p.G1231E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1231	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGGGACAGGAATCCCACCG	0.617000														8			5		0	0	0.000602	0	0
STK36	27148	broad.mit.edu	37	2	219553520	219553520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219553520C>T	uc002viu.3	+	11	1760	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	STK36_uc002viv.3_Missense_Mutation_p.S494F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	494					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCTTGTATTCCTTCTGCCGG	0.582000														41			28		0	0	0.005443	0	0
ROBO1	6091	broad.mit.edu	37	3	78667144	78667144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:78667144G>A	uc003dqe.2	-	26	4131	c.3923C>T	c.(3922-3924)cCa>cTa	p.P1308L	ROBO1_uc003dqc.2_Missense_Mutation_p.P1208L|ROBO1_uc003dqd.2_Missense_Mutation_p.P1263L|ROBO1_uc003dqb.2_Missense_Mutation_p.P1269L|ROBO1_uc010hoh.2_Missense_Mutation_p.P500L|ROBO1_uc011bgl.1_Missense_Mutation_p.P880L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1308					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATAGGTATGTGGAGGGGAGAT	0.502000														40			18		0	0	0.001882	0	0
HOMER1	9456	broad.mit.edu	37	5	78692726	78692726	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:78692726C>T	uc003kfy.3	-	8	1899	c.796_splice	c.e8-1	p.E266_splice	HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Splice_Site_p.E136_splice|HOMER1_uc010jad.3_Splice_Site_p.E92_splice	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	266					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTTTCTATTTCCTAGAAAAGA	0.338000														1			9		0	0	0.004482	0	0
KRT9	3857	broad.mit.edu	37	17	39727617	39727617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39727617C>T	uc002hxe.4	-	0	694	c.628G>A	c.(628-630)Gat>Aat	p.D210N	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	210	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCCTTGAGATCATCAATAGTG	0.418000														34			85		0	0	0.003610	0	0
PDK4	5166	broad.mit.edu	37	7	95222231	95222231	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:95222231G>A	uc003uoa.3	-	3	690	c.370C>T	c.(370-372)Cga>Tga	p.R124*	PDK4_uc003unz.3_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	124					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGTCTATTTCGAACTTTGATG	0.353000														51			64		0	0	0.003610	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:7723467C>T	uc001aoi.3	+	8	1067	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S287L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637000			T	WWTR1	epitheliod hemangioendothelioma									67			48		0	0	0.003610	0	0
ITGA6	3655	broad.mit.edu	37	2	173338914	173338914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:173338914C>T	uc002uhp.1	+	5	1110	c.907C>T	c.(907-909)Cct>Tct	p.P303S	ITGA6_uc010fqk.1_Missense_Mutation_p.P189S|ITGA6_uc010zdy.1_Missense_Mutation_p.P184S|ITGA6_uc002uho.1_Missense_Mutation_p.P303S|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	342					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)			ACATCTCCTCCCTGAGCACAT	0.488000														38			27		0	0	0.001271	0	0
COL20A1	57642	broad.mit.edu	37	20	61950913	61950913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61950913G>A	uc011aau.2	+	22	2981	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	COL20A1_uc011aav.2_Missense_Mutation_p.E782K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	961	TSP N-terminal.				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)					CGACCCGCAGGAAGTGAGGAA	0.662000														3			7		0	0	0.000443	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518603	113518603	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:113518603G>A	uc010ljy.1	-	3	2575	c.2544C>T	c.(2542-2544)tcC>tcT	p.S848S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	848					glycogen metabolic process	integral to membrane		p.S848Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGACCCATGAGGATTCTTCCA	0.373000														78			95		0	0	0.003610	0	0
OR4D10	390197	broad.mit.edu	37	11	59245604	59245604	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59245604G>A	uc001nnz.1	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGCAGGAGGAAAGCCATCT	0.547000														42			33		0	0	0.002836	0	0
SYNE1	23345	broad.mit.edu	37	6	152711425	152711425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152711425G>A	uc021zhb.1	-	50	8390	c.8167C>T	c.(8167-8169)Cac>Tac	p.H2723Y	SYNE1_uc003qot.4_Missense_Mutation_p.H2730Y|SYNE1_uc003qou.4_Missense_Mutation_p.H2723Y|SYNE1_uc010kjb.1_Missense_Mutation_p.H2706Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2723					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGAGCGTGGACGGAGGAG	0.453000										HNSCC(10;0.0054)				29			25		0	0	0.001271	0	0
DEC1	50514	broad.mit.edu	37	9	118162708	118162708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:118162708G>A	uc004bjk.1	+	5	603	c.84G>A	c.(82-84)atG>atA	p.M28I	DEC1_uc004bjl.1_Intron	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.	28					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						tgttacacatgatggtaggtg	0.458000														12			61		0	0	0.003610	0	0
RNF152	220441	broad.mit.edu	37	18	59483292	59483292	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:59483292G>A	uc002lih.1	-	1	817	c.405C>T	c.(403-405)atC>atT	p.I135I	RNF152_uc021ula.1_Silent_p.I135I	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	135					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GTTCAGCAGGGATGGTCACCA	0.692000														21			14		0	0	0.004990	0	0
CDH6	1004	broad.mit.edu	37	5	31267717	31267718	+	Missense_Mutation	DNP	AT	TC	TC			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:31267717_31267718AT>TC	uc003jhe.2	+	1	497_498	c.137_138AT>TC	c.(136-138)aat>aTC	p.N46I	CDH6_uc003jhd.2_Missense_Mutation_p.N46I	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACAGCAAAAATGAGCTGAACC	0.490000														86			6		0	0	0.004672	0	0
WDR67	93594	broad.mit.edu	37	8	124096453	124096453	+	Missense_Mutation	SNP	C	T	T	rs144033919		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124096453C>T	uc003ypp.2	+	3	482	c.392C>T	c.(391-393)tCg>tTg	p.S131L	WDR67_uc011lig.2_Missense_Mutation_p.S131L|WDR67_uc011lih.2_Missense_Mutation_p.S21L|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Missense_Mutation_p.S131L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	131						centrosome	Rab GTPase activator activity	p.S131S(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGTATTTTCGATCTCTGTG	0.398000														59			74		0	0	0.003610	0	0
LDB2	9079	broad.mit.edu	37	4	16597475	16597476	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:16597475_16597476GG>AA	uc003goz.3	-	2	574_575	c.258_259CC>TT	c.(256-261)ccccgt>ccTTgt	p.R87C	LDB2_uc003gpa.3_Missense_Mutation_p.R87C|LDB2_uc011bxh.2_Missense_Mutation_p.R87C|LDB2_uc003gpb.3_Missense_Mutation_p.R87C|LDB2_uc010iee.3_Missense_Mutation_p.R87C|LDB2_uc011bxi.2_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	87							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTAAAGTAACGGGGGATGAGGG	0.485000														21			10		0	0	0.004672	0	0
FAM60A	58516	broad.mit.edu	37	12	31451024	31451024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:31451024G>A	uc001rkc.3	-	0	432	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	FAM60A_uc010sjz.2_Nonsense_Mutation_p.Q39*|FAM60A_uc001rkd.3_Nonsense_Mutation_p.Q39*|FAM60A_uc010ska.2_Nonsense_Mutation_p.Q39*|FAM60A_uc001rke.3_Nonsense_Mutation_p.Q39*|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	39										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					AAACAGCTCTGGAAGTCCTTT	0.403000														56			41		0	0	0.003610	0	0
BAI3	577	broad.mit.edu	37	6	69703786	69703786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:69703786G>A	uc010kak.3	+	9	2137	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	BAI3_uc003pev.4_Missense_Mutation_p.E621K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	621					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E621D(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GATGTCTGTGGAGATCCTGAG	0.463000														67			36		0	0	0.003755	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375878	83375878	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:83375878C>T	uc003hmv.3	+	3	650	c.393C>T	c.(391-393)ttC>ttT	p.F131F	ENOPH1_uc003hmx.3_5'UTR	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	131					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CCTCTAGGTTCTTTGCAGATG	0.453000														53			39		0	0	0.002522	0	0
KCNB2	9312	broad.mit.edu	37	8	73848499	73848500	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73848499_73848500CC>TT	uc003xzb.3	+	2	1497_1498	c.909_910CC>TT	c.(907-912)ttccga>ttTTga	p.R304*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	304					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)			TCCAGATCTTCCGAATCATGCG	0.525000														42			22		0	0	0.004672	0	0
LIFR	3977	broad.mit.edu	37	5	38481702	38481702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38481702C>T	uc010ive.1	-	19	3621	c.3289G>A	c.(3289-3291)Gat>Aat	p.D1097N	LIFR_uc003jli.2_Missense_Mutation_p.D1097N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	1097					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CACTGTTAATCGTTTGGTTTG	0.423000			T	PLAG1	salivary adenoma									62			45		0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13323213	13323213	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13323213G>A	uc002mwy.3	-	41	6410	c.6174C>T	c.(6172-6174)agC>agT	p.S2058S	CACNA1A_uc002mwx.3_Silent_p.S764S|CACNA1A_uc010dzc.2_Silent_p.S1584S|CACNA1A_uc010xnd.2_Silent_p.S2061S|CACNA1A_uc021ups.1_Silent_p.S2058S|CACNA1A_uc010xne.2_Silent_p.S2061S|CACNA1A_uc010dze.2_Silent_p.S2058S|CACNA1A_uc021upt.1_Silent_p.S2059S|CACNA1A_uc002mwv.3_Silent_p.S575S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2059					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTTAGGCTGGCTGTTGGGCA	0.647000														10			8		0	0	0.000673	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705054	77705054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77705054G>A	uc001xtf.2	+	9	881	c.669G>A	c.(667-669)atG>atA	p.M223I	TMEM63C_uc010asq.1_Missense_Mutation_p.M223I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	223						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGACACTAATGATCACCTATG	0.473000														6			18		0	0	0.002299	0	0
KCNH7	90134	broad.mit.edu	37	2	163374315	163374315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:163374315C>T	uc002uch.2	-	3	1046	c.817G>A	c.(817-819)Gca>Aca	p.A273T	KCNH7_uc002uci.3_Missense_Mutation_p.A273T	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	273					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCGAAGATGCTCTCCGTATA	0.463000														41			27		0	0	0.001786	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530056	5530056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5530056C>T	uc021qcw.1	-	0	733	c.733G>A	c.(733-735)Gag>Aag	p.E245K	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.E245K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	245										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAATGCTCTCCAAGTTACTG	0.493000														52			26		0	0	0.001512	0	0
PKHD1	5314	broad.mit.edu	37	6	51890163	51890163	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:51890163T>A	uc003pah.1	-	31	4721	c.4445A>T	c.(4444-4446)gAa>gTa	p.E1482V	PKHD1_uc003pai.3_Missense_Mutation_p.E1482V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1482					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)					ACTTGCCTCTTCCCTTATGAA	0.542000														28			18		0	0	0.004990	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021720	51021720	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51021720T>G	uc002pss.3	-	2	1387	c.1250A>C	c.(1249-1251)cAt>cCt	p.H417P		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	417	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGTGCCGTCATGCAGGACGGA	0.642000														10			24		0	0	0.003954	0	0
CDHR5	53841	broad.mit.edu	37	11	618710	618710	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:618710T>C	uc001lql.3	-	12	2116	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V	IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.M617V|CDHR5_uc009ycd.3_Missense_Mutation_p.M611V|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.M451V	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	617	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTGGTTCCCATACCGGGGGGC	0.662000														56			4		0	0	0.000248	0	0
AKAP9	10142	broad.mit.edu	37	7	91731944	91731944	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:91731944C>T	uc003ulg.3	+	45	11359	c.11134C>T	c.(11134-11136)Cga>Tga	p.R3712*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.R3704*|AKAP9_uc003uli.3_Nonsense_Mutation_p.R3335*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.R1482*|AKAP9_uc003ull.3_Nonsense_Mutation_p.R608*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3716					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)			AGAAAGTTTTCGAAAGGCTCT	0.453000			T	BRAF	papillary thyroid									66			17		0	0	0.000743	0	0
CSMD1	64478	broad.mit.edu	37	8	2949063	2949063	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:2949063C>T	uc022aqr.1	-	47	7650	c.7260G>A	c.(7258-7260)aaG>aaA	p.K2420K	CSMD1_uc011kwj.2_Silent_p.K1750K|CSMD1_uc010lrg.3_Silent_p.K489K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2421	CUB 14.					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)		TGAATCCTTTCTTACTGGTGG	0.333000														11			31		0	0	0.005524	0	0
ZNF238	10472	broad.mit.edu	37	1	244218166	244218166	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:244218166C>T	uc001iad.4	+	1	1263	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	ZNF238_uc001iae.3_Silent_p.L355L|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	355	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GGAGAGCAGTCTGCTCCCCTA	0.612000														29			10		0	0	0.000978	0	0
MGLL	11343	broad.mit.edu	37	3	127441400	127441400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:127441400C>T	uc003ejx.3	-	3	387	c.242G>A	c.(241-243)gGa>gAa	p.G81E	MGLL_uc003ejw.3_Missense_Mutation_p.G91E|MGLL_uc011bko.2_Missense_Mutation_p.G91E|MGLL_uc010hsp.1_Missense_Mutation_p.G81E|MGLL_uc003ejv.3_Missense_Mutation_p.G55E	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	81					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TTCGCTCTGTCCGTGGCCAAC	0.537000														15			13		0	0	0.004990	0	0
ABCA4	24	broad.mit.edu	37	1	94514507	94514507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:94514507G>A	uc001dqh.3	-	17	2764	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	ABCA4_uc010otn.1_Missense_Mutation_p.S813L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	887					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C886G(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTGGTTGAACACCCTGC	0.527000														21			15		0	0	0.004990	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835169	24835169	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24835169C>T	uc001iru.4	+	20	6151	c.5748C>T	c.(5746-5748)atC>atT	p.I1916I	KIAA1217_uc001irs.3_Silent_p.I1237I|KIAA1217_uc001irt.4_Silent_p.I1282I|KIAA1217_uc010qcy.2_Silent_p.I1347I|KIAA1217_uc010qcz.2_Silent_p.I1322I|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1916					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAGGACCATCCATACTCCCA	0.517000														53			25		0	0	0.001061	0	0
DBF4B	80174	broad.mit.edu	37	17	42828063	42828064	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42828063_42828064CC>TT	uc002ihf.3	+	13	1503_1504	c.1290_1291CC>TT	c.(1288-1293)ctcctg>ctTTtg	p.430_431LL>LL	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	430					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCTT	0.619000														5			27		0	0	0.004672	0	0
OR5D13	390142	broad.mit.edu	37	11	55541597	55541597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55541597G>A	uc010ril.2	+	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTACCATTATGAAGATGCGAT	0.418000														44			37		0	0	0.003755	0	0
LRP8	7804	broad.mit.edu	37	1	53736906	53736906	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:53736906G>A	uc001cvi.2	-	6	1356	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Silent_p.T373T|LRP8_uc001cvk.2_Silent_p.T203T|LRP8_uc001cvl.2_Silent_p.T244T|LRP8_uc001cvm.1_5'Flank	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	373	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CACCGCCACAGGTCTTCTGGT	0.572000														51			25		0	0	0.003954	0	0
SPATA25	128497	broad.mit.edu	37	20	44515224	44515224	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44515224G>T	uc002xqf.3	-	1	625	c.616C>A	c.(616-618)Cac>Aac	p.H206N		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	206						integral to membrane											GAGGCTGTGTGGGCATGTGCC	0.597000														127			7		0.00448238	0.00930402	0.004482	1	0
OR6K6	128371	broad.mit.edu	37	1	158725430	158725430	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158725430C>T	uc001fsw.1	+	0	825	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTGCTGTGTTCTTGCTATTTT	0.448000														52			26		0	0	0.003954	0	0
CR1	1378	broad.mit.edu	37	1	207680090	207680090	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207680090G>A	uc001hfy.3	+	2	473	c.333G>A	c.(331-333)gtG>gtA	p.V111V	CR1_uc009xcl.1_Silent_p.V111V|CR1_uc001hfx.3_Silent_p.V111V|CR1_uc021pij.1_Silent_p.V111V|CR1_uc010psg.1_Silent_p.V111V|CR1_uc009xcj.1_Silent_p.V111V|CR1_uc009xck.1_Silent_p.V111V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	111	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGATCCTGTGAATGGCATGG	0.383000														46			43		0	0	0.003610	0	0
ADCY1	107	broad.mit.edu	37	7	45743343	45743343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45743343G>A	uc003tne.4	+	15	2734	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	906					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	p.D905D(1)		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)	CGACTTTGACGAGGTGAGGCT	0.562000														26			23		0	0	0.003330	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827025	43827025	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:43827025G>A	uc001zrw.3	-	30	4353	c.4149C>T	c.(4147-4149)taC>taT	p.Y1383Y	PPIP5K1_uc021sjw.1_Silent_p.Y1358Y|PPIP5K1_uc001zrx.2_Silent_p.Y1356Y|PPIP5K1_uc001zry.4_Silent_p.Y1358Y|PPIP5K1_uc021sjx.1_Silent_p.Y312Y	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1383					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						AGAACTCCTGGTATGGCTGGA	0.522000														47			36		0	0	0.004878	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091976	30091976	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:30091976G>A	uc010dmc.3	+	0		c.351G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CAGATGATCCGAGACATGGAG	0.408000														14			9		0	0	0.000443	0	0
APOL1	8542	broad.mit.edu	37	22	36661671	36661671	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:36661671C>T	uc003ape.3	+	6	1111	c.837C>T	c.(835-837)tcC>tcT	p.S279S	APOL1_uc011amn.1_Silent_p.S140S|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.S140S|APOL1_uc003apf.3_Silent_p.S263S|APOL1_uc011amp.2_Silent_p.S263S|APOL1_uc011amq.2_Silent_p.S245S|APOL1_uc010gwx.3_Silent_p.S140S	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	263					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGAACATATCCAACTTTCTTT	0.498000														27			19		0	0	0.000958	0	0
LOC440040	440040	broad.mit.edu	37	11	49805494	49805495	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49805494_49805495CT>TG	uc010rhy.2	+	2	1169_1170	c.691_692CT>TG	c.(691-693)ctg>TGg	p.L231W	LOC440040_uc009ymb.3_Missense_Mutation_p.L231W					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TGATAAGCTGCTGAAGAAGCTC	0.535000														9			12		0	0	0.004672	0	0
IGSF21	84966	broad.mit.edu	37	1	18704809	18704809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:18704809G>A	uc001bau.2	+	9	1776	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	IGSF21_uc001bav.2_Missense_Mutation_p.E286K	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	465						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AGTGATTCTGGAGCTGACGTG	0.562000														13			11		0	0	0.000978	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101645	87101645	+	RNA	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87101645G>T	uc010osh.2	+	2		c.325G>T								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						TTAGGCAGATGTCATAGTTGC	0.289000														52			34		1.07121e-22	2.25794e-22	0.001485	1	0
ABCC9	10060	broad.mit.edu	37	12	22005388	22005388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:22005388C>T	uc001rfh.3	-	20	2577	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	ABCC9_uc001rfi.1_Missense_Mutation_p.E853K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	853	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E853Q(3)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAATCCCCTCCTGCATTAAA	0.408000														40			35		0	0	0.003755	0	0
PASD1	139135	broad.mit.edu	37	X	150832763	150832763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:150832763G>A	uc004fev.4	+	10	1346	c.1014G>A	c.(1012-1014)atG>atA	p.M338I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	338						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTGATGGATCCAGTGG	0.597000														5			17		0	0	0.000958	0	0
KCNK9	51305	broad.mit.edu	37	8	140630513	140630513	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140630513C>T	uc003yvf.1	-	1	1177	c.1113G>A	c.(1111-1113)cgG>cgA	p.R371R	KCNK9_uc003yvg.1_Silent_p.R371R|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	371						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AAACGGACTTCCGGCGTTTCA	0.448000														71			75		0	0	0.003610	0	0
SOBP	55084	broad.mit.edu	37	6	107956606	107956606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:107956606G>A	uc003prx.3	+	5	3062	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	853							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCAGCGCCGGGCCTGAGGAC	0.602000														57			49		0	0	0.003610	0	0
GRIK3	2899	broad.mit.edu	37	1	37315934	37315934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37315934G>A	uc001caz.2	-	8	1439	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	GRIK3_uc001cba.1_Missense_Mutation_p.S435L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	435					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GACAATGAGTGATCTGTTTGT	0.607000														46			34		0	0	0.004289	0	0
EPHA2	1969	broad.mit.edu	37	1	16458581	16458581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16458581G>A	uc001aya.2	-	12	2458	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	768	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTGGCCTCGGGGTCGTCCTC	0.622000														33			28		0	0	0.001786	0	0
STAB1	23166	broad.mit.edu	37	3	52539154	52539154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52539154C>T	uc003dej.3	+	12	1587	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	STAB1_uc003dei.1_Missense_Mutation_p.P505S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	505					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)		CCCTGGGGATCCCAAGGTGAG	0.612000														34			22		0	0	0.001061	0	0
DDX39A	10212	broad.mit.edu	37	19	14523405	14523405	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14523405G>A	uc002myo.3	-	2	412	c.294C>T	c.(292-294)ttC>ttT	p.F98F	DDX39A_uc010xnp.2_Silent_p.F98F|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Silent_p.F98F	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	98	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGGCCAGCACGAAGACCGCTG	0.637000														27			19		0	0	0.000743	0	0
MARCH4	57574	broad.mit.edu	37	2	217124188	217124188	+	Silent	SNP	G	A	A	rs144064965		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:217124188G>A	uc002vgb.3	-	3	2847	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	360						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCTGGGCAGGGCCCTGCTCAG	0.642000														23			24		0	0	0.005443	0	0
PPP3CA	5530	broad.mit.edu	37	4	102020813	102020813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:102020813G>A	uc011cen.1	-	3	1126	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	PPP3CA_uc003hvu.2_Missense_Mutation_p.H151Y|PPP3CA_uc010ilj.2_Missense_Mutation_p.H151Y|PPP3CA_uc003hvt.2_Missense_Mutation_p.H138Y|PPP3CA_uc003hvs.2_Missense_Mutation_p.H84Y|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	151	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTACATTCATGATTTCCACGA	0.289000														41			21		0	0	0.004656	0	0
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:70226019C>T	uc001dep.3	+	0	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_uc001deo.1_Silent_p.F82F|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	44						centrosome|focal adhesion|nucleolus	protein binding	p.F44F(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTTAACTTCGAACGAACAT	0.393000														23			14		0	0	0.003163	0	0
PES1	23481	broad.mit.edu	37	22	30974830	30974830	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30974830G>A	uc003aij.2	-	13	1784	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	PES1_uc003aik.2_Silent_p.I554I|PES1_uc003aio.1_Silent_p.I420I|PES1_uc003ain.1_Silent_p.I420I	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	559	Required for 28S ribosomal RNA processing.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCACCTCTCGGATTTTTCGCC	0.542000														29			21		0	0	0.001523	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946493	16946493	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16946493G>A	uc010ocf.2	-	2		c.405C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GGGCCCGCTCGGCCTCCAGCT	0.677000														10			4		0	0	0.000248	0	0
HEG1	57493	broad.mit.edu	37	3	124732113	124732113	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:124732113G>A	uc011bke.2	-	6	2678	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L	HEG1_uc003ehs.4_Silent_p.L770L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	770						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACTACTATGGAGCATTGTCA	0.493000														102			58		0	0	0.003610	0	0
KRT39	390792	broad.mit.edu	37	17	39122948	39122948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39122948G>A	uc002hvo.1	-	0	197	c.161C>T	c.(160-162)cCc>cTc	p.P54L	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	54	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGTCCCAGGGAATTCTGAG	0.507000														26			149		0	0	0.003610	0	0
TMPO	7112	broad.mit.edu	37	12	98926672	98926672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:98926672C>T	uc001tfh.2	+	3	932	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	0	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGAACTACTCCCTCTGGTGG	0.433000														51			35		0	0	0.003271	0	0
ADH7	131	broad.mit.edu	37	4	100348964	100348964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100348964G>A	uc003huv.2	-	4	807	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ADH7_uc021xqj.1_Missense_Mutation_p.S197F	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	189					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATATCCAGTGGAAAACCCACA	0.408000														23			28		0	0	0.001512	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852429	31852429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:31852429C>T	uc011acx.2	-	0	208	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	70	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATCCATAGCCTCCAAAGCCA	0.498000														125			71		0	0	0.003610	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923117	35923117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35923117C>T	uc003olm.3	-	16	2155	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.E264K|SLC26A8_uc003oll.3_Missense_Mutation_p.E577K|SLC26A8_uc003oln.3_Missense_Mutation_p.E682K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	682	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCCAAACTTCCTCCACCTCC	0.498000														48			38		0	0	0.001485	0	0
DNAH5	1767	broad.mit.edu	37	5	13911582	13911582	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13911582C>T	uc003jfd.2	-	11	1599	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	519	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)					ATTCCTTTTTCTTTATGGTTG	0.318000									Kartagener syndrome					91			10		0	0	0.000673	0	0
EPHA7	2045	broad.mit.edu	37	6	93979326	93979326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:93979326G>A	uc003poe.3	-	6	1743	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	EPHA7_uc003pof.3_Missense_Mutation_p.S501F|EPHA7_uc011eac.2_Missense_Mutation_p.S501F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	501	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTATTAATGGAGGCTGAAGT	0.388000														65			38		0	0	0.002852	0	0
HLA-G	3135	broad.mit.edu	37	6	29856299	29856299	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29856299C>T	uc010jro.3	+	2	551	c.405C>T	c.(403-405)ttC>ttT	p.F135F	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Silent_p.F133F|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	133	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACGGGCGCTTCCTCCGCGGGT	0.687000														6			9		0	0	0.000443	0	0
OR2F2	135948	broad.mit.edu	37	7	143632523	143632523	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143632523C>T	uc011ktv.2	+	0	198	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TCACCAACCTCTCCCTTGTCG	0.517000														105			114		0	0	0.003610	0	0
OLFM3	118427	broad.mit.edu	37	1	102296230	102296230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:102296230G>A	uc001duf.2	-	2	501	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	OLFM3_uc001dug.2_Nonsense_Mutation_p.Q124*|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Nonsense_Mutation_p.Q49*|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	144						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAACCTACCTGAAAATGCTTG	0.418000														91			62		0	0	0.003610	0	0
ME1	4199	broad.mit.edu	37	6	84055912	84055912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84055912C>T	uc003pjy.3	-	4	845	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ME1_uc011dzb.2_Missense_Mutation_p.D119N|ME1_uc011dzc.2_Missense_Mutation_p.D28N	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	194					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GTTCCCACATCCAGAATGACA	0.413000														41			25		0	0	0.001271	0	0
BRD9	65980	broad.mit.edu	37	5	865553	865553	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:865553A>T	uc003jbq.3	-	14	1836	c.1669T>A	c.(1669-1671)Tcc>Acc	p.S557T	BRD9_uc003jbl.3_Missense_Mutation_p.S441T|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.S504T|BRD9_uc003jbo.3_Missense_Mutation_p.S461T	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	557							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCCCTCTCGGAGGCGTTGGAC	0.662000														47			15		0	0	0.004990	0	0
NLRP13	126204	broad.mit.edu	37	19	56421975	56421975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56421975G>A	uc010ygg.2	-	5	2261	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	746							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCAAGACAGAGACCCTTCACA	0.468000														83			36		0	0	0.004289	0	0
ENAM	10117	broad.mit.edu	37	4	71500179	71500179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71500179C>T	uc011caw.1	+	5	646	c.365C>T	c.(364-366)aCc>aTc	p.T122I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	122					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCCAAGAAACCCAGAAACCC	0.517000														27			24		0	0	0.002299	0	0
KAT7	11143	broad.mit.edu	37	17	47900603	47900603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:47900603C>T	uc002ipm.3	+	11	1642	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	KAT7_uc002ipl.2_Missense_Mutation_p.L446F|KAT7_uc010wma.2_Missense_Mutation_p.L337F|KAT7_uc010wmb.2_Missense_Mutation_p.L366F|KAT7_uc010wmc.2_Missense_Mutation_p.L307F|KAT7_uc010wmd.2_Missense_Mutation_p.L320F|KAT7_uc010wme.2_Missense_Mutation_p.L290F|KAT7_uc010wmf.2_Missense_Mutation_p.L141F|KAT7_uc010wmg.2_Missense_Mutation_p.L31F	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	476					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CTCCTGTATCCTTACTATGCC	0.413000														11			117		0	0	0.003610	0	0
STAC	6769	broad.mit.edu	37	3	36545950	36545950	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36545950G>A	uc003cgh.1	+	7	870	c.831_splice	c.e7+1	p.Q277_splice	STAC_uc010hgd.1_Splice_Site|STAC_uc011aya.1_Splice_Site_p.Q216_splice	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	277					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAACCACCAGGTATTTATGGA	0.428000														22			15		0	0	0.003163	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588741	140588741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140588741G>A	uc003liz.3	+	0	451	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	88	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGAGAGAAATGCTAGA	0.488000														11			32		0	0	0.002836	0	0
HRASLS5	117245	broad.mit.edu	37	11	63230976	63230976	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63230976C>T	uc001nwy.2	-	5	1013	c.839G>A	c.(838-840)tGa>tAa	p.*280*	HRASLS5_uc001nwz.2_Silent_p.*270*|HRASLS5_uc010rmq.1_3'UTR|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCATCACCTTCAGGCAGTTAT	0.468000														105			43		0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486714	173486714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173486714C>T	uc001giz.2	-	22	3292	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	SLC9C2_uc009wwe.2_Missense_Mutation_p.E515K	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	957					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TATTCAATTTCACGCTTAAGC	0.368000														58			75		0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100568854	100568854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:100568854C>T	uc003yiv.3	+	30	5108	c.4997C>T	c.(4996-4998)cCa>cTa	p.P1666L	VPS13B_uc003yiw.3_Missense_Mutation_p.P1641L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1666					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)			TCTCAAAATCCAGCCCTTGAG	0.408000														37			12		0	0	0.000978	0	0
TSPAN2	10100	broad.mit.edu	37	1	115600211	115600211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115600211C>T	uc001eft.3	-	5	531	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	TSPAN2_uc021osc.1_Missense_Mutation_p.E155K	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	155						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCGGAGCTTTCTTTTCCACAG	0.502000														164			91		0	0	0.003610	0	0
BC128131	0	broad.mit.edu	37	19	23159597	23159597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:23159597G>A	uc002nqz.1	-	1	376	c.350C>T	c.(349-351)tCa>tTa	p.S117L	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		CATGCAAAATGATCTGACATA	0.318000														19			12		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	8995651	8995651	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8995651C>T	uc002mkp.3	-	62	41541	c.41337G>A	c.(41335-41337)tcG>tcA	p.S13779S	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.S596S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13781				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						GGCCAAATATCGAGGCTGGAG	0.463000														14			8		0	0	0.000443	0	0
SCN8A	6334	broad.mit.edu	37	12	52156407	52156407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52156407G>A	uc001ryw.3	+	14	2669	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	SCN8A_uc010snl.2_Missense_Mutation_p.E831K|SCN8A_uc001ryy.2_Missense_Mutation_p.E696K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	831					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.M830I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAGTTTAATGGAACTGAGTCT	0.418000														65			43		0	0	0.002222	0	0
PKD1	5310	broad.mit.edu	37	16	2159811	2159811	+	Missense_Mutation	SNP	G	A	A	rs151176070		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2159811G>A	uc002cos.1	-	14	5566	c.5357C>T	c.(5356-5358)cCg>cTg	p.P1786L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P1786L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1786	PKD 13.		P -> L (rare polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGCCCAGCGGGTTCCCTGC	0.662000														17			11		0	0	0.001368	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764416	109764416	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:109764416C>T	uc004eos.1	+	0		c.877C>T								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		ATGGCCATTTCTAAAGCCTTT	0.502000														9			18		0	0	0.004990	0	0
ATP1A2	477	broad.mit.edu	37	1	160104985	160104985	+	Missense_Mutation	SNP	C	T	T	rs145701604		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160104985C>T	uc001fvc.3	+	14	2147	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATP1A2_uc001fvb.2_Missense_Mutation_p.S672L|ATP1A2_uc001fvd.3_Missense_Mutation_p.S408L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	672					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACATGACATCGGAGCAGCTC	0.577000														39			24		0	0	0.004656	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514758	26514758	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:26514758G>A	uc001bln.4	+	16	1567	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	CNKSR1_uc001blm.4_Silent_p.K496K|CNKSR1_uc009vsd.3_Silent_p.K238K|CNKSR1_uc009vse.3_Silent_p.K238K|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	503					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.A503T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCATCTCCAAGTACCAGTCTC	0.607000														21			16		0	0	0.004990	0	0
THBS1	7057	broad.mit.edu	37	15	39874923	39874923	+	Silent	SNP	C	T	T	rs138250796		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39874923C>T	uc001zkh.3	+	2	776	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	199	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTCCGCATCGCAAAGGGGG	0.562000														25			9		0	0	0.000443	0	0
TONSL	4796	broad.mit.edu	37	8	145667672	145667672	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145667672G>A	uc011llg.2	-	5	717	c.702C>T	c.(700-702)acC>acT	p.T234T		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	234					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTTCCTCATGGTGTGCGCAC	0.647000														32			19		0	0	0.001523	0	0
BAHD1	22893	broad.mit.edu	37	15	40750727	40750728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40750727_40750728CC>TT	uc001zlu.2	+	1	135_136	c.64_65CC>TT	c.(64-66)ccc>TTc	p.P22F	BAHD1_uc001zlt.2_Missense_Mutation_p.P22F|BAHD1_uc010bbp.1_Missense_Mutation_p.P22F|BAHD1_uc001zlv.2_Missense_Mutation_p.P22F	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	22					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCGCCGAGAGCCCCTGCAGATG	0.604000														49			27		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152280545	152280545	+	Missense_Mutation	SNP	C	T	T	rs142969864		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152280545C>T	uc001ezu.1	-	2	6853	c.6817G>A	c.(6817-6819)Gag>Aag	p.E2273K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2273	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACTGCTCCTGAGCAGAT	0.562000									Ichthyosis					154			71		0	0	0.003610	0	0
PLCZ1	89869	broad.mit.edu	37	12	18849175	18849175	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:18849175C>T	uc021qvx.1	-	10	1391	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	PLCZ1_uc001rdv.4_Silent_p.R296R|PLCZ1_uc001rdw.4_Silent_p.R141R|PLCZ1_uc001rdu.1_Silent_p.R182R|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	400	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TAATGAACTTCCTGGTGTGAA	0.274000														16			13		0	0	0.004007	0	0
PCDH18	54510	broad.mit.edu	37	4	138451923	138451923	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138451923C>T	uc003ihe.4	-	0	1707	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	440	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGTGTCCCCCTGTCCTCAG	0.373000														55			40		0	0	0.001287	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415401	210415401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:210415401G>A	uc001hhy.3	+	3	969	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	SERTAD4_uc009xcw.3_Missense_Mutation_p.E264K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	264							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		ACCTGCCAATGAAATCTTTGT	0.448000														38			9		0	0	0.000673	0	0
KLRC4	8302	broad.mit.edu	37	12	10560950	10560950	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:10560950G>A	uc001qye.3	-	2	500	c.318C>T	c.(316-318)tcC>tcT	p.S106S	KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	106					cellular defense response	integral to membrane	binding|receptor activity	p.S106P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TTCTATTCAGGGAAAAATTGT	0.279000														16			14		0	0	0.004990	0	0
COL6A3	1293	broad.mit.edu	37	2	238275624	238275624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238275624C>T	uc002vwl.2	-	10	5491	c.5206G>A	c.(5206-5208)Ggc>Agc	p.G1736S	COL6A3_uc002vwo.2_Missense_Mutation_p.G1530S|COL6A3_uc010znj.1_Missense_Mutation_p.G1129S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1736	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGCGGCTGCCTGCCTCAGGC	0.577000														30			13		0	0	0.003163	0	0
DSCAM	1826	broad.mit.edu	37	21	41539166	41539166	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41539166C>T	uc002yyq.1	-	15	3449	c.2997G>A	c.(2995-2997)caG>caA	p.Q999Q	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.	999	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCTGATGCTCTGAGATGATA	0.517000														27			19		0	0	0.001882	0	0
PLXNB1	5364	broad.mit.edu	37	3	48457565	48457565	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48457565G>A	uc003csw.2	-	17	3762	c.3492C>T	c.(3490-3492)gtC>gtT	p.V1164V	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Silent_p.V981V|PLXNB1_uc003csx.2_Silent_p.V1164V|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'UTR	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1164	IPT/TIG 2.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGGAATGGACCTTCGGAT	0.642000														3			7		0	0	0.004482	0	0
IPO9	55705	broad.mit.edu	37	1	201842023	201842023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201842023C>T	uc001gwz.3	+	19	2694	c.2644C>T	c.(2644-2646)Cgt>Tgt	p.R882C		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	882					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ACAGGATATCCGTGTGAAGGG	0.522000														40			23		0	0	0.004656	0	0
MIA3	375056	broad.mit.edu	37	1	222802619	222802620	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:222802619_222802620CC>TT	uc001hnl.3	+	3	2066_2067	c.2057_2058CC>TT	c.(2056-2058)tcc>tTT	p.S686F	MIA3_uc009xea.1_Missense_Mutation_p.S522F	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	686					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAAGAGGACTCCTTGGATGAAG	0.480000														265			131		0	0	0.004672	0	0
ARMC12	221481	broad.mit.edu	37	6	35716457	35716457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35716457C>T	uc003ola.3	+	5	941	c.914C>T	c.(913-915)tCc>tTc	p.S305F	ARMC12_uc003olb.1_Missense_Mutation_p.S268F	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	278							binding										AACGAACAGTCCCTGCATGAA	0.567000														31			18		0	0	0.000958	0	0
CECR1	51816	broad.mit.edu	37	22	17684653	17684654	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:17684653_17684654TC>GT	uc002zmk.1	-	2	764_765	c.552_553GA>AC	c.(550-555)aggaat>agACat	p.N185H	CECR1_uc010gqu.1_Missense_Mutation_p.N185H|CECR1_uc011agi.1_Missense_Mutation_p.N143H|CECR1_uc011agj.1_Missense_Mutation_p.N143H	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	185	PRB domain.				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)				AGAGTGAAATTCCTCAGCAAGC	0.525000														11			7		0	0	0.004672	0	0
C16orf45	89927	broad.mit.edu	37	16	15661858	15661858	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15661858C>T	uc002ddo.3	+	2	435	c.249C>T	c.(247-249)ctC>ctT	p.L83L	C16orf45_uc002ddp.3_Silent_p.L66L	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	83										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						ACATCCAGCTCTGCAAGGACA	0.517000														10			9		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	106714617	106714617	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106714617C>T	uc021ser.1	-	1006		c.23239G>A								Parts of antibodies, mostly variable regions.																		TCAGGGACCCCCCAGGCTGTA	0.587000														9			49		0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76483656	76483656	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:76483656C>T	uc002fex.1	+	5	1120	c.981C>T	c.(979-981)ttC>ttT	p.F327F	CNTNAP4_uc002feu.1_Silent_p.F323F|CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002few.2_Silent_p.F299F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	324	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGTGTCATTCCCACATAGAA	0.348000														16			6		0	0	0.001168	0	0
RFC1	5981	broad.mit.edu	37	4	39308225	39308225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39308225G>A	uc003gty.2	-	13	2125	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	RFC1_uc003gtx.2_Missense_Mutation_p.S661F	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	662					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACACACCAGGGAAGCTGTGGT	0.512000														17			10		0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76503584	76503584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76503584G>A	uc010dhp.2	-	27	4665	c.4540C>T	c.(4540-4542)Ccg>Tcg	p.P1514S		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGTCCCCCGGGAGCTGGGTG	0.597000														4			26		0	0	0.004656	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059554	117059554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:117059554C>T	uc001lcg.3	+	15	2812	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L	ATRNL1_uc010qsm.2_5'UTR|ATRNL1_uc010qsn.2_5'Flank	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	809	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAGTATCACCTTGGGTAGGC	0.383000														36			29		0	0	0.002445	0	0
PLD5	200150	broad.mit.edu	37	1	242428750	242428750	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:242428750C>T	uc001hzn.2	-	5	723	c.496_splice	c.e5-1	p.G166_splice	PLD5_uc021pll.1_Splice_Site_p.G74_splice|PLD5_uc001hzl.4_Splice_Site_p.G104_splice|PLD5_uc001hzm.4_Splice_Site|PLD5_uc001hzo.2_Splice_Site_p.G74_splice	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	166						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGACGTTGACCCTGGAAAAAA	0.323000														43			13		0	0	0.001368	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996397	140996397	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140996397C>T	uc004fbt.3	+	3	3531	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MAGEC1_uc010nsl.2_Silent_p.F136F|MAGEC1_uc022cfi.1_Silent_p.F728F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1069	MAGE.						protein binding	p.F1069F(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTACGAATTCCTGTGGGGTC	0.488000										HNSCC(15;0.026)				6			53		0	0	0.003610	0	0
HAUS2	55142	broad.mit.edu	37	15	42858899	42858899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42858899C>T	uc001zqe.3	+	5	653	c.593C>T	c.(592-594)tCg>tTg	p.S198L	HAUS2_uc010udi.2_Missense_Mutation_p.S167L|HAUS2_uc001zqf.3_Missense_Mutation_p.S104L	NM_018097	NP_060567	Q9NVX0	HAUS2_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 2 (HAUS2), transcript variant 1, mRNA.	198					G2/M transition of mitotic cell cycle|cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|cytosol|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						AACGAAGTTTCGTCTTGTATC	0.348000														18			15		0	0	0.002450	0	0
FAM135B	51059	broad.mit.edu	37	8	139165314	139165314	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139165314G>A	uc003yuy.3	-	12	1575	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	FAM135B_uc003yux.3_Silent_p.S369S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.S30S|FAM135B_uc003yvb.3_Silent_p.S30S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	468								p.S468S(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATCCATTTGGGATGGTTTTA	0.383000										HNSCC(54;0.14)				51			29		0	0	0.003610	0	0
SLC5A11	115584	broad.mit.edu	37	16	24873930	24873930	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24873930G>A	uc002dmu.3	+	2	375	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SLC5A11_uc002dms.3_5'UTR|SLC5A11_uc010vcd.2_Silent_p.V48V|SLC5A11_uc002dmt.3_5'UTR|SLC5A11_uc010vce.2_Silent_p.V48V|SLC5A11_uc010bxt.3_5'UTR	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	48					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGTCCACAGTGAAGACCAAAA	0.478000														38			11		0	0	0.001368	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714338	138714338	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138714338G>A	uc004cgr.4	-	10	2169	c.2169C>T	c.(2167-2169)ccC>ccT	p.P723P	CAMSAP1_uc004cgq.4_Silent_p.P613P|CAMSAP1_uc010nbg.3_Silent_p.P445P	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	723						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTGGGAGTTGGGGCTTTTTG	0.552000														6			28		0	0	0.001271	0	0
PKP2	5318	broad.mit.edu	37	12	32949219	32949219	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:32949219G>A	uc001rlj.4	-	11	2428	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	PKP2_uc001rlk.4_Silent_p.L727L|PKP2_uc010skj.2_Silent_p.L724L	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	771					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAAATCAGGGAGAGTTTCTT	0.358000														19			10		0	0	0.000673	0	0
INF2	64423	broad.mit.edu	37	14	105177966	105177966	+	Splice_Site	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105177966G>T	uc001ypb.2	+	16	2562	c.2419_splice	c.e16-1	p.E807_splice	INF2_uc001ypc.2_Splice_Site_p.E807_splice|INF2_uc010awz.1_Splice_Site	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	807	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCATTGCAGGAAGCGGAAAA	0.617000														7			18		5.35356e-11	1.12341e-10	0.002780	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125874302	125874302	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:125874302G>A	uc003eim.1	-	4	763	c.573C>T	c.(571-573)ctC>ctT	p.L191L	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.L217L|ALDH1L1_uc003eip.1_Silent_p.L98L|ALDH1L1_uc011bkj.1_Silent_p.L16L	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	191	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGGCTGAGGGAGTCTGGGGG	0.612000														21			14		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9057747	9057747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9057747C>T	uc002mkp.3	-	2	29903	c.29699G>A	c.(29698-29700)gGa>gAa	p.G9900E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9902	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGGCACTCCATAAAGGAC	0.468000														81			41		0	0	0.003214	0	0
CDH26	60437	broad.mit.edu	37	20	58569433	58569433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:58569433C>T	uc002ybe.3	+	10	1866	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CDH26_uc002ybf.1_Missense_Mutation_p.H99Y|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	519					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGAGCCCCTCCACATCGAGGC	0.547000														61			9		0	0	0.004482	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89891358G>A	uc001pdf.4	+	6	951	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.R281Q|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.R281Q|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R281*(2)|p.R281R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313000														93			57		0	0	0.003610	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652218	234652218	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234652218C>T	uc002vuz.3	-	0	444	c.345G>A	c.(343-345)ttG>ttA	p.L115L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	115					protein folding		heat shock protein binding|unfolded protein binding										GCGGGTTTCCCAAGAGGTCAA	0.572000														30			18		0	0	0.001216	0	0
TLR5	7100	broad.mit.edu	37	1	223284970	223284970	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223284970G>A	uc021pjl.1	-	0	1404	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	TLR5_uc001hnv.2_Silent_p.T468T|TLR5_uc001hnw.2_Silent_p.T468T	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	468			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.T468T(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTCTGAAGGGGTTTGATCTC	0.413000														44			38		0	0	0.005524	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918507	51918507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51918507C>T	uc002pwo.3	-	6	1480	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	SIGLEC10_uc002pwp.3_Missense_Mutation_p.E362K|SIGLEC10_uc021uyl.1_Missense_Mutation_p.E337K|SIGLEC10_uc002pwq.3_Missense_Mutation_p.E362K|SIGLEC10_uc010ycz.2_Missense_Mutation_p.E372K|SIGLEC10_uc002pws.2_Missense_Mutation_p.E272K|SIGLEC10_uc002pwr.3_Missense_Mutation_p.E420K|SIGLEC10_uc010ycy.2_Missense_Mutation_p.E330K|SIGLEC10_uc010eow.3_Missense_Mutation_p.E232K|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	420	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AACTCTCCTTCGTGCTCCACT	0.667000														29			24		0	0	0.002780	0	0
C1orf116	79098	broad.mit.edu	37	1	207195954	207195954	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207195954G>A	uc001hfd.2	-	3	1414	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	C1orf116_uc009xcb.1_Silent_p.S139S|C1orf116_uc021pii.1_Silent_p.S139S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	385						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ctggagctggggACAGATGCT	0.622000														24			25		0	0	0.004656	0	0
PARP12	64761	broad.mit.edu	37	7	139737607	139737607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:139737607G>A	uc003vvl.1	-	6	2106	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V	PARP12_uc010lnf.1_Intron	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	411	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCCAGGTAGGCCTTCTCCAC	0.557000														11			28		0	0	0.001061	0	0
EP400	57634	broad.mit.edu	37	12	132510207	132510207	+	Silent	SNP	C	T	T	rs142800597		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:132510207C>T	uc001ujn.3	+	24	5024	c.4872C>T	c.(4870-4872)atC>atT	p.I1624I	EP400_uc021rgq.1_Silent_p.I1623I|EP400_uc001ujm.3_Silent_p.I1543I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1660					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTCCAGATCGTGTCCGCCC	0.612000														18			11		0	0	0.001368	0	0
OR51B6	390058	broad.mit.edu	37	11	5373184	5373184	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5373184G>A	uc010qzb.2	+	0	447	c.447G>A	c.(445-447)agG>agA	p.R149R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGACAAGGGCTGGTCTGT	0.473000														33			29		0	0	0.001271	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196602738C>T	uc002utj.4	-	64	12083	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_uc002uti.4_Silent_p.T477T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3994					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						TCACAAAATTCGTGGAATGGC	0.453000														25			16		0	0	0.004007	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884877	15884877	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:15884877C>T	uc002yju.1	-	3	379	c.297G>A	c.(295-297)gaG>gaA	p.E99E	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.E167E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	99					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTGGGCATTCTCTCCATCTT	0.443000														69			43		0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64119691	64119691	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64119691C>T	uc001nzy.3	+	18	3238	c.3189C>T	c.(3187-3189)tcC>tcT	p.S1063S	CCDC88B_uc009ypo.2_Silent_p.S1060S|CCDC88B_uc001oaa.3_Silent_p.S215S|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.3_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1063					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACGGCAGTCCCAGGAGGAGA	0.692000														6			4		0	0	0.000248	0	0
COL21A1	81578	broad.mit.edu	37	6	56035923	56035923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:56035923G>A	uc003pcs.3	-	3	876	c.644C>T	c.(643-645)tCt>tTt	p.S215F	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S215F|COL21A1_uc003pcu.1_Missense_Mutation_p.S215F	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	215					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)			TGGACAGACAGATTCTATAAA	0.313000														61			45		0	0	0.003610	0	0
ATAD2B	54454	broad.mit.edu	37	2	24110840	24110840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:24110840G>A	uc002rek.4	-	3	730	c.434C>T	c.(433-435)cCc>cTc	p.P145L	ATAD2B_uc002rei.4_Missense_Mutation_p.P145L|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc010exx.2_Missense_Mutation_p.P145L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	145							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCGAAGGGGATGGCTTCG	0.353000														33			12		0	0	0.000978	0	0
DLAT	1737	broad.mit.edu	37	11	111914232	111914233	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111914232_111914233CT>TC	uc001pmo.3	+	7	1831_1832	c.1172_1173CT>TC	c.(1171-1173)tct>tTC	p.S391F	DLAT_uc010rwr.2_Missense_Mutation_p.S264F|DLAT_uc021qqn.1_Missense_Mutation_p.S335F	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	391					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GATATCGACTCTTTTGTGCCTA	0.391000														90			48		0	0	0.004672	0	0
FGD5	152273	broad.mit.edu	37	3	14861823	14861823	+	Silent	SNP	C	T	T	rs112305534	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14861823C>T	uc003bzc.3	+	0	1355	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	FGD5_uc011avk.2_Silent_p.V415V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	415					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGTGGTGGTCGTGCTGGAGG	0.677000														18			10		0	0	0.000443	0	0
AZIN1	51582	broad.mit.edu	37	8	103841673	103841674	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:103841673_103841674CC>AA	uc003ykx.3	-	11	1803_1804	c.1061_1062GG>TT	c.(1060-1062)tgg>tTT	p.W354F	AZIN1_uc003yky.3_Missense_Mutation_p.W354F	NM_015878	NP_680479	O14977	AZIN1_HUMAN	Homo sapiens antizyme inhibitor 1 (AZIN1), transcript variant 1, mRNA.	354					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)			AGGATGGACCCCAAAGGCTGCT	0.391000														365			10		0	0	0.004672	0	0
TNN	63923	broad.mit.edu	37	1	175063163	175063163	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175063163G>A	uc001gkl.1	+	6	1475	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	TNN_uc010pmx.1_Silent_p.V454V	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	454	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGATCGAGTGACTGAAGACA	0.438000														30			32		0	0	0.003271	0	0
FAM71B	153745	broad.mit.edu	37	5	156592958	156592958	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156592958G>A	uc003lwn.3	-	0	322	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	74						nucleus		p.G73C(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTGCAGACGATGCCCACTG	0.493000														76			142		0	0	0.003610	0	0
LRRC43	254050	broad.mit.edu	37	12	122674686	122674686	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:122674686C>T	uc009zxm.3	+	4	697	c.672C>T	c.(670-672)ctC>ctT	p.L224L	LRRC43_uc001ubw.4_Silent_p.L39L|LRRC43_uc009zxn.3_5'UTR	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	224								p.S224*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGCCCAACCTCGTCTCCCTGG	0.657000														66			44		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181745296	181745296	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181745296C>T	uc009wxt.3	+	37	5394	c.5199C>T	c.(5197-5199)tcC>tcT	p.S1733S	CACNA1E_uc001gow.3_Silent_p.S1733S|CACNA1E_uc009wxs.3_Silent_p.S1714S|CACNA1E_uc001gox.1_Silent_p.S959S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1733					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						CTCGGGACTCCTCCATCCTGG	0.597000														95			44		0	0	0.003214	0	0
SV2A	9900	broad.mit.edu	37	1	149879641	149879641	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:149879641G>A	uc001etg.3	-	8	1988	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.F499F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	499					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTCCAACGTGAAGTTAAAAG	0.512000														82			38		0	0	0.001287	0	0
PVR	5817	broad.mit.edu	37	19	45153139	45153139	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45153139C>T	uc002ozm.3	+	2	785	c.486C>T	c.(484-486)ccC>ccT	p.P162P	PVR_uc010ejs.3_Silent_p.P162P|PVR_uc010xxb.2_Silent_p.P162P|PVR_uc010xxc.2_Silent_p.P162P|PVR_uc002ozn.3_Silent_p.P107P	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	162	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		AGCCAGTGCCCATGGCCCGCT	0.612000														126			97		0	0	0.003610	0	0
IP6K1	9807	broad.mit.edu	37	3	49785288	49785288	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49785288G>A	uc021wyl.1	-	1	839	c.186C>T	c.(184-186)ctC>ctT	p.L62L	IP6K1_uc003cxm.1_Silent_p.L62L|IP6K1_uc003cxn.1_Intron	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	62					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						TTTCGGGAGGGAGGGACTCGT	0.532000														17			8		0	0	0.000443	0	0
FOXI2	399823	broad.mit.edu	37	10	129536803	129536803	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:129536803C>T	uc009yas.2	+	1	531	c.531C>T	c.(529-531)acC>acT	p.T177T	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	177					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	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(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				ATTACTGGACCCTGGACCCCA	0.577000														9			3		0	0	0.000602	0	0
CALCRL	10203	broad.mit.edu	37	2	188228121	188228121	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188228121G>A	uc010frt.3	-	7	992	c.609C>T	c.(607-609)gcC>gcT	p.A203A	CALCRL_uc002upv.4_Silent_p.A203A	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	203						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGGCTACTAAGGCCTGGTTGT	0.418000														53			26		0	0	0.001061	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583581	145583581	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145583581C>T	uc003zcc.2	+	2	593	c.429C>T	c.(427-429)ttC>ttT	p.F143F	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.F143F|SLC52A2_uc010mfy.2_Silent_p.F143F|SLC52A2_uc011llc.2_Silent_p.F55F|SLC52A2_uc003zcd.2_Silent_p.F143F	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	143						integral to plasma membrane	receptor activity|riboflavin transporter activity										CACCTCGCTTCTTACGGTCAT	0.622000														80			85		0	0	0.003610	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35530205	35530205	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:35530205G>A	uc001ziy.3	+	0		c.679G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		GCTCCGTGAAGAAGAAAGGGG	0.433000														22			6		0	0	0.001984	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262102	1262102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1262102G>A	uc002cks.3	+	24	4971	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	CACNA1H_uc002ckt.3_Missense_Mutation_p.E1575K|CACNA1H_uc002cku.3_Missense_Mutation_p.E281K|CACNA1H_uc010brj.3_Missense_Mutation_p.E281K|CACNA1H_uc002ckv.3_Missense_Mutation_p.E281K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1575					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCGAGAGGAGAAGCGGCT	0.692000														22			14		0	0	0.001855	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444354	5444354	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5444354C>T	uc010qzd.2	+	0	1014	c.924C>T	c.(922-924)ttC>ttT	p.F308F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	308			F -> S (in dbSNP:rs2647573).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTAAATTTCCTTTCCCTCA	0.393000														6			10		0	0	0.000673	0	0
ZP1	22917	broad.mit.edu	37	11	60638726	60638726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60638726G>A	uc001nqd.3	+	5	1071	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	ZP1_uc001nqe.3_Missense_Mutation_p.V58M	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	351	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAACTGGCTGGTGTCTGGCAT	0.622000														19			8		0	0	0.003080	0	0
CIB3	117286	broad.mit.edu	37	19	16278981	16278981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:16278981C>T	uc002nds.3	-	3	313	c.313G>A	c.(313-315)Gac>Aac	p.D105N	CIB3_uc010eae.3_Missense_Mutation_p.D44N|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Missense_Mutation_p.D56N	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	105	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCCTTGAGGTCGCGGGGAGCC	0.552000														9			9		0	0	0.000443	0	0
ITPR3	3710	broad.mit.edu	37	6	33652691	33652691	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33652691C>T	uc021ywr.1	+	38	5502	c.5278C>T	c.(5278-5280)Ctg>Ttg	p.L1760L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1760					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGCCATCCACCTGCTGGATGG	0.617000														20			20		0	0	0.002299	0	0
DFNB31	25861	broad.mit.edu	37	9	117169089	117169089	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:117169089G>A	uc004biy.4	-	8	1273	c.633C>T	c.(631-633)ctC>ctT	p.L211L	DFNB31_uc004bix.3_Silent_p.L243L|DFNB31_uc004biz.4_Silent_p.L594L|DFNB31_uc004bja.4_Silent_p.L594L	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	594	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCCTAGTGGGAGGTCGTTGC	0.617000														0			13		0	0	0.001368	0	0
FOXJ2	55810	broad.mit.edu	37	12	8203144	8203144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:8203144C>T	uc001qtu.3	+	9	2649	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	522					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding	p.P522P(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCCACAAGCTCCCCACCTCTA	0.517000														44			42		0	0	0.003610	0	0
OR52J3	119679	broad.mit.edu	37	11	5068338	5068338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5068338C>T	uc010qyv.2	+	0	583	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACATTCGTATCAATGG	0.438000														64			52		0	0	0.003610	0	0
EDNRA	1909	broad.mit.edu	37	4	148406837	148406837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:148406837G>A	uc003iky.3	+	1	534	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Missense_Mutation_p.E2K|EDNRA_uc010ipe.1_Missense_Mutation_p.E2K|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	2					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCTCAAGATGGAAACCCTTTG	0.388000														39			22		0	0	0.003330	0	0
AP3S1	1176	broad.mit.edu	37	5	115249116	115249116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:115249116C>T	uc003krl.3	+	5	627	c.511C>T	c.(511-513)Cct>Tct	p.P171S	AP3S1_uc003krk.3_Missense_Mutation_p.P149S	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	171					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TATGAATCTTCCTGAGATCCC	0.383000														47			14		0	0	0.000743	0	0
PVRL4	81607	broad.mit.edu	37	1	161044479	161044479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:161044479C>T	uc001fxo.2	-	4	1221	c.922G>A	c.(922-924)Gag>Aag	p.E308K	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Missense_Mutation_p.E42K	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	308	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCGCTGTGCTCAGTGGTCAGT	0.572000														37			12		0	0	0.001855	0	0
NOM1	64434	broad.mit.edu	37	7	156746968	156746968	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:156746968C>T	uc003wmy.3	+	2	1299	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	428	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TAGTCAGCATCCTTCACCACA	0.498000														23			24		0	0	0.003954	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391307	1391307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1391307C>T	uc002clk.2	+	7	811	c.653C>T	c.(652-654)cCa>cTa	p.P218L	BAIAP3_uc010uuz.2_Missense_Mutation_p.P183L|BAIAP3_uc010uva.2_Missense_Mutation_p.P155L|BAIAP3_uc021tag.1_Missense_Mutation_p.P160L|BAIAP3_uc002clj.3_Missense_Mutation_p.P200L|BAIAP3_uc010uvb.2_Missense_Mutation_p.P235L|BAIAP3_uc010uvc.1_Missense_Mutation_p.P183L	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	218	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TTCAGCGACCCATACTGCATG	0.716000														26			12		0	0	0.000978	0	0
OR8B3	390271	broad.mit.edu	37	11	124266346	124266346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124266346C>T	uc010saj.2	-	0	902	c.902G>A	c.(901-903)aGg>aAg	p.R301K	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGCTTTCCTCAGTGCAAC	0.343000														60			26		0	0	0.001061	0	0
ARNT	405	broad.mit.edu	37	1	150795777	150795777	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150795777G>A	uc001evr.2	-	13	1488	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ARNT_uc001evs.2_Silent_p.F414F|ARNT_uc009wmd.2_Silent_p.F414F|ARNT_uc009wmb.2_Silent_p.F415F|ARNT_uc009wmc.2_Silent_p.F429F|ARNT_uc009wme.2_Intron|ARNT_uc010pcl.2_Silent_p.F413F	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	429	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTTAGACCGGAACCGGAACA	0.398000			T	ETV6	AML									47			65		0	0	0.003610	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688663	111688663	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:111688663G>C	uc010hqa.3	+	15	3853	c.3442G>C	c.(3442-3444)Gga>Cga	p.G1148R	PHLDB2_uc003dyc.3_Missense_Mutation_p.G1132R|PHLDB2_uc003dyd.3_Missense_Mutation_p.G1105R|PHLDB2_uc003dyg.3_Missense_Mutation_p.G1148R|PHLDB2_uc003dyh.3_Missense_Mutation_p.G1105R|PHLDB2_uc003dyi.3_Missense_Mutation_p.G639R|PHLDB2_uc003dyj.3_Missense_Mutation_p.G203R	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1148	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTGCCGAGGATTCCTCAT	0.438000														61			40		0	0	0.001485	0	0
SOCS5	9655	broad.mit.edu	37	2	46985927	46985927	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:46985927C>T	uc021vgx.1	+	0	258	c.258C>T	c.(256-258)atC>atT	p.I86I	SOCS5_uc002rvf.3_Silent_p.I86I|SOCS5_uc002rvg.3_Silent_p.I86I	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	86					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCACAGAAATCCCTCAAATTG	0.398000														28			18		0	0	0.001882	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173526501C>T	uc001giz.2	-	9	1616	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363000														89			100		0	0	0.003610	0	0
P2RY12	64805	broad.mit.edu	37	3	151056490	151056490	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151056490C>T	uc003eyw.1	-	1	360	c.144G>A	c.(142-144)agG>agA	p.R48R	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Silent_p.R48R|P2RY12_uc003eyx.1_Silent_p.R48R|P2RY12_uc021xga.1_Silent_p.R48R	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	48					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GAAAGAAAATCCTCATCGCCA	0.388000														14			14		0	0	0.004990	0	0
PYGM	5837	broad.mit.edu	37	11	64518027	64518027	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64518027C>T	uc001oax.4	-	16	2815	c.1998G>A	c.(1996-1998)caG>caA	p.Q666Q	PYGM_uc001oay.4_Silent_p.Q578Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	666			Q -> E (in GSD5).		glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGTGGAGATCTGCTCAGAGA	0.592000														27			16		0	0	0.004007	0	0
VCX	26609	broad.mit.edu	37	X	7811698	7811698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:7811698G>A	uc004crz.3	+	2	481	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	88	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCCTCAGCACGAGCTGCCGCC	0.711000														32			15		0	0	0.001882	0	0
TCTE1	202500	broad.mit.edu	37	6	44249952	44249952	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44249952G>A	uc003oxi.2	-	3	1347	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	397										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCCACCGAGGTGCAGCG	0.582000														28			20		0	0	0.002780	0	0
TBXAS1	6916	broad.mit.edu	37	7	139636058	139636058	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:139636058G>T	uc011kqv.2	+	4	640	c.405G>T	c.(403-405)gaG>gaT	p.E135D	TBXAS1_uc003vvh.3_Missense_Mutation_p.E135D|TBXAS1_uc010lne.3_Missense_Mutation_p.E67D|TBXAS1_uc011kqu.2_Missense_Mutation_p.E86D|TBXAS1_uc003vvi.3_Missense_Mutation_p.E135D|TBXAS1_uc011kqw.2_Missense_Mutation_p.E115D|TBXAS1_uc003vvj.3_Missense_Mutation_p.E135D	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	134					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GATGGGAAGAGGTCAGAGGTG	0.493000														84			128		6.63191e-72	1.40134e-71	0.003610	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:111594984C>T	uc003kpv.1	-	8	1011	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R246L(4)|p.R246Q(2)|p.P245H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393000														11			28		0	0	0.001271	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232356	1232356	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1232356C>T	uc003jby.2	+	1	306	c.183C>T	c.(181-183)gtC>gtT	p.V61V		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	61					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)			TCCCCTACGTCATCGCGCTGG	0.706000														13			5		0	0	0.001168	0	0
ITM2A	9452	broad.mit.edu	37	X	78616612	78616612	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:78616612C>A	uc004edh.3	-	5	1103	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	ITM2A_uc011mqr.2_Missense_Mutation_p.V212F	NM_004867	NP_004858	O43736	ITM2A_HUMAN	Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA.	256						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTGGTCTCAACAATAAATTCG	0.353000														5			12		0.00185496	0.0038635	0.001855	1	0
BCOR	54880	broad.mit.edu	37	X	39923790	39923791	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:39923790_39923791GA>AT	uc004den.4	-	6	3592_3593	c.3300_3301TC>AT	c.(3298-3303)cttcct>ctATct	p.P1101S	BCOR_uc004dep.4_Missense_Mutation_p.P1101S|BCOR_uc004deo.4_Missense_Mutation_p.P1083S|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Missense_Mutation_p.P1101S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1101					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTCTCCACAGGAAGATCTTTGT	0.589000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							4			24		0	0	0.004672	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217101	40217101	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40217101C>T	uc003ayg.3	-	4	980	c.729G>A	c.(727-729)ttG>ttA	p.L243L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	243										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GATCATCATCCAAAAATGTCA	0.388000														19			14		0	0	0.003163	0	0
OPN5	221391	broad.mit.edu	37	6	47749833	47749833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:47749833G>A	uc003ozc.3	+	0	59	c.31G>A	c.(31-33)Gac>Aac	p.D11N		NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	11					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCTGCCTCAGGACGAGCGCCT	0.493000														33			24		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9074244	9074244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9074244G>A	uc002mkp.3	-	2	13406	c.13202C>T	c.(13201-13203)cCa>cTa	p.P4401L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4403	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						CAAGAGATATGGACCCTGTGT	0.473000														83			50		0	0	0.003610	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476733	28476733	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:28476733C>T	uc003ceh.3	+	3	633	c.465C>T	c.(463-465)ttC>ttT	p.F155F	ZCWPW2_uc003cei.3_Silent_p.F155F|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	155	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGGCAACATTCGTTGGACATT	0.333000														44			41		0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55721651	55721652	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55721651_55721652CC>TT	uc010qhy.1	-	23	3279	c.2884_splice	c.e23-1	p.G962_splice	PCDH15_uc010qhq.2_Splice_Site_p.G962_splice|PCDH15_uc010qhr.2_Splice_Site_p.G957_splice|PCDH15_uc021pqv.1_Splice_Site_p.G957_splice|PCDH15_uc021pqw.1_Splice_Site_p.G969_splice|PCDH15_uc010qht.2_Splice_Site_p.G964_splice|PCDH15_uc021pqx.1_Splice_Site_p.G957_splice|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Splice_Site_p.G957_splice|PCDH15_uc021pqz.1_Splice_Site_p.G935_splice|PCDH15_uc010qhv.1_Splice_Site_p.G957_splice|PCDH15_uc010qhw.1_Splice_Site_p.G920_splice|PCDH15_uc010qhx.1_Splice_Site_p.G886_splice|PCDH15_uc010qhz.1_Splice_Site_p.G957_splice|PCDH15_uc010qia.1_Splice_Site_p.G935_splice|PCDH15_uc001jju.1_Splice_Site_p.G957_splice|PCDH15_uc010qib.1_Splice_Site_p.G935_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	957	Cadherin 9.				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.G957*(4)|p.G962*(4)		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)				TGCAGGTAATCCCtaaaataaa	0.312000										HNSCC(58;0.16)				35			21		0	0	0.004672	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660022	77660022	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77660022C>T	uc011cbx.2	+	4	1649	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SHROOM3_uc011cbz.1_Silent_p.Y56Y|SHROOM3_uc003hkf.1_Silent_p.Y107Y|SHROOM3_uc003hkg.3_Silent_p.Y10Y	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	232					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGGGGCATACCCACCCTGTC	0.572000														28			13		0	0	0.002450	0	0
ZNF598	90850	broad.mit.edu	37	16	2050212	2050212	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2050212G>A	uc002cof.1	-	10	1353	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	446						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGAGAGGCTGGGGAAGTCTT	0.662000														40			30		0	0	0.004289	0	0
ANO3	63982	broad.mit.edu	37	11	26620542	26620542	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:26620542C>T	uc001mqt.4	+	15	1813	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	ANO3_uc010rdr.2_Silent_p.F540F|ANO3_uc010rds.2_Silent_p.F395F|ANO3_uc010rdt.2_Silent_p.F410F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	556						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAATATTCTTCATGGTAAAGT	0.378000														27			19		0	0	0.001523	0	0
RLF	6018	broad.mit.edu	37	1	40688281	40688281	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40688281C>T	uc001cfc.4	+	5	877	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	282					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TACTAGACATCATTTGTAATC	0.368000														45			33		0	0	0.004289	0	0
RPTN	126638	broad.mit.edu	37	1	152129259	152129259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152129259C>T	uc001ezs.1	-	2	381	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	106	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						TGTGCTCCTTCCTGCCCCCTT	0.517000														155			59		0	0	0.003610	0	0
DNAI1	27019	broad.mit.edu	37	9	34500829	34500829	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:34500829C>T	uc003zum.3	+	10	1204	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	337					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCGTCACTGCCCTCTGCTGGT	0.552000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			18		0	0	0.001216	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241693	134241693	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:134241693C>T	uc001qhp.3	+	14	1664	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	492					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCGAGTCAACTATGGGGAGA	0.547000														29			23		0	0	0.001271	0	0
ZNF215	7762	broad.mit.edu	37	11	6953622	6953622	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6953622A>T	uc001mey.3	+	2	707	c.119A>T	c.(118-120)gAg>gTg	p.E40V	ZNF215_uc010raw.2_Missense_Mutation_p.E40V|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.E40V	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E40Q(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)		CCCGTCGTGGAGACACATGAC	0.493000														64			32		0	0	0.001485	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535324	166535324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166535324G>A	uc002udf.3	+	6	1195	c.819G>A	c.(817-819)atG>atA	p.M273I	CSRNP3_uc002udg.3_Missense_Mutation_p.M273I	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	273					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACACAATAATGAAACTTGAAC	0.463000														27			17		0	0	0.004990	0	0
STMN3	50861	broad.mit.edu	37	20	62275187	62275187	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62275187G>A	uc002yfr.1	-	2	295	c.213C>T	c.(211-213)ctC>ctT	p.L71L	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	71					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GTGGGGAGGAGAGCATAGGGC	0.622000														34			71		0	0	0.003610	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214354	67214354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:67214354G>A	uc002ert.3	-	1	995	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.P54S|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	54	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AGCGCTGGGGGGACTGCCAGA	0.652000														17			14		0	0	0.002450	0	0
DOCK8	81704	broad.mit.edu	37	9	439338	439338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:439338G>A	uc003zgf.2	+	39	5285	c.5173G>A	c.(5173-5175)Gag>Aag	p.E1725K	DOCK8_uc022bcu.1_Missense_Mutation_p.E1657K|DOCK8_uc010mgv.3_Missense_Mutation_p.E1625K|DOCK8_uc010mgu.3_Missense_Mutation_p.E1027K|DOCK8_uc003zgk.2_Missense_Mutation_p.E1183K	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1725	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.E1657K(1)|p.E1725K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTACTTCACCGAGAGTGGCCT	0.617000														10			12		0	0	0.003163	0	0
SCAF11	9169	broad.mit.edu	37	12	46321886	46321886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:46321886G>A	uc001rox.3	-	10	1885	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	SCAF11_uc001row.3_Missense_Mutation_p.S218L|SCAF11_uc001roy.1_Missense_Mutation_p.S607L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	533					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTCTGATTGTGAAAGTCCAGA	0.353000														61			44		0	0	0.002222	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506980	167506980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:167506980C>T	uc003ffa.4	+	1	262	c.64C>T	c.(64-66)Cct>Tct	p.P22S	SERPINI1_uc003ffb.4_Missense_Mutation_p.P22S	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	22					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P22S(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGCCACTTTCCCTGAGGAAGC	0.408000														35			37		0	0	0.005524	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364024	42364024	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42364024G>A	uc001zox.3	-	14	1616	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	507	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCCGTCCCATGAAGAACTCGG	0.617000														21			6		0	0	0.003080	0	0
TJP3	27134	broad.mit.edu	37	19	3744028	3744028	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3744028C>T	uc010xhv.2	+	13	2034	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	TJP3_uc010xhs.2_Silent_p.I645I|TJP3_uc010xht.2_Silent_p.I609I|TJP3_uc010xhu.2_Silent_p.I654I|TJP3_uc010xhw.2_Silent_p.I664I	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	659	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTTGAAATCGCAGGTGAGA	0.512000														49			35		0	0	0.005524	0	0
KCNH7	90134	broad.mit.edu	37	2	163302840	163302840	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:163302840G>A	uc002uch.2	-	6	1471	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	KCNH7_uc002uci.3_Silent_p.I407I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	414					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L413R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCAACAGCAGGATAAGCCAGT	0.453000														30			18		0	0	0.001216	0	0
F10	2159	broad.mit.edu	37	13	113803279	113803279	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:113803279G>A	uc001vsx.3	+	7	972	c.915G>A	c.(913-915)gtG>gtA	p.V305V	F10_uc001vsy.3_Nonsense_Mutation_p.W302*	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	305	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCACGAGGTGGAGGTGGTCA	0.622000														21			41		0	0	0.002852	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82582174G>A	uc003uhx.2	-	4	8384	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_uc003uhv.2_Missense_Mutation_p.P2699S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000														46			21		0	0	0.001216	0	0
PROKR2	128674	broad.mit.edu	37	20	5294603	5294603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:5294603G>A	uc010zqw.2	-	0	421	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PROKR2_uc010zqx.2_Missense_Mutation_p.S138F|PROKR2_uc010zqy.2_Missense_Mutation_p.S138F|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	138						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S138F(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GACGTAGAGGGAGACGGTGCG	0.612000										HNSCC(71;0.22)				8			8		0	0	0.003080	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113512	117113512	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117113512G>A	uc003pxj.1	-	5	2596	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	GPRC6A_uc003pxk.1_Silent_p.S683S|GPRC6A_uc003pxl.1_Silent_p.S787S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	858					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)		TCACACTATGGGAAGAATAAC	0.443000														38			28		0	0	0.001271	0	0
CRYGD	1421	broad.mit.edu	37	2	208986436	208986436	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:208986436G>A	uc002vcn.4	-	2	602	c.486C>T	c.(484-486)gcC>gcT	p.A162A	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Silent_p.A162A	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	162	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCCCACTCTGGCATTCGTGG	0.493000														23			16		0	0	0.004007	0	0
NEURL3	93082	broad.mit.edu	37	2	97165184	97165184	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97165184G>A	uc010fhx.3	-	3		c.767C>T			NEURL3_uc002swc.3_Non-coding_Transcript					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		CTGGCTGTGGGATCTGAGGCA	0.632000														30			20		0	0	0.001882	0	0
SAMD11	148398	broad.mit.edu	37	1	874805	874805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:874805C>T	uc001abw.1	+	6	751	c.671C>T	c.(670-672)cCc>cTc	p.P224L	SAMD11_uc001abx.1_Intron	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	224						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GAGGACCCACCCTGGCATGAT	0.647000														22			16		0	0	0.000743	0	0
NOTCH3	4854	broad.mit.edu	37	19	15290071	15290071	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15290071C>T	uc002nan.3	-	21	3559	c.3483G>A	c.(3481-3483)gaG>gaA	p.E1161E	NOTCH3_uc002nao.1_Silent_p.E1109E	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1161	EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGCAGTCATCCTCATTAATCT	0.642000														21			9		0	0	0.000443	0	0
CCK	885	broad.mit.edu	37	3	42299635	42299635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:42299635C>T	uc021wwk.1	-	2	430	c.303G>A	c.(301-303)atG>atA	p.M101I	CCK_uc003cld.1_Missense_Mutation_p.M101I	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	101					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GGCCAAAATCCATCCAGCCCA	0.582000														27			19		0	0	0.000958	0	0
PARD3	56288	broad.mit.edu	37	10	34636976	34636976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:34636976C>T	uc010qej.2	-	14	2465	c.2135G>A	c.(2134-2136)cGa>cAa	p.R712Q	PARD3_uc010qep.2_Missense_Mutation_p.R655Q|PARD3_uc010qeq.2_Missense_Mutation_p.R655Q|PARD3_uc010qek.2_Missense_Mutation_p.R712Q|PARD3_uc010qel.2_Missense_Mutation_p.R712Q|PARD3_uc010qem.2_Missense_Mutation_p.R699Q|PARD3_uc010qen.2_Missense_Mutation_p.R699Q|PARD3_uc010qeo.2_Missense_Mutation_p.R699Q|PARD3_uc001ixo.2_Missense_Mutation_p.R429Q|PARD3_uc001ixr.2_Missense_Mutation_p.R712Q|PARD3_uc001ixq.2_Missense_Mutation_p.R699Q|PARD3_uc001ixp.2_Missense_Mutation_p.R712Q|PARD3_uc001ixt.1_Missense_Mutation_p.R533Q|PARD3_uc001ixu.2_Missense_Mutation_p.R655Q|PARD3_uc001ixs.1_Missense_Mutation_p.R365Q	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	712	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGAAATTCTTCGTTCTCTATC	0.507000														21			16		0	0	0.000743	0	0
CUL4B	8450	broad.mit.edu	37	X	119664110	119664110	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:119664110C>T	uc004esw.3	-	21	2931	c.2494_splice	c.e21-1	p.V832_splice	CUL4B_uc010nqq.3_Splice_Site_p.V533_splice|CUL4B_uc004esv.3_Splice_Site_p.V814_splice	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	832					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTCTTCAACCTAACAAAAAA	0.318000														8			57		0	0	0.003610	0	0
AGXT	189	broad.mit.edu	37	2	241808728	241808728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241808728G>A	uc002waa.4	+	1	428	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	AGXT_uc010zoi.1_Missense_Mutation_p.G103R	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	103					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTTCCTGGTTGGGGCCAATGG	0.642000														36			22		0	0	0.004656	0	0
ROS1	6098	broad.mit.edu	37	6	117641174	117641174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117641174C>T	uc003pxp.1	-	35	5996	c.5797G>A	c.(5797-5799)Gag>Aag	p.E1933K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Missense_Mutation_p.E259K	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1933					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTCAATCTCCTCTTGGGTT	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									22			17		0	0	0.004007	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058080	152058080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152058080C>T	uc001ezo.1	-	2	2143	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	693							calcium ion binding	p.K692R(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGCTATCTCCCTTTCCAGG	0.458000														125			56		0	0	0.003610	0	0
ZNF391	346157	broad.mit.edu	37	6	27368397	27368397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:27368397C>T	uc003njf.1	+	2	766	c.248C>T	c.(247-249)tCc>tTc	p.S83F	ZNF391_uc021ypw.1_Missense_Mutation_p.S83F	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGACATGGATCCCCAATATCT	0.373000														40			21		0	0	0.001882	0	0
CCDC3	83643	broad.mit.edu	37	10	12940599	12940599	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:12940599C>T	uc001ilq.1	-	2	764	c.630G>A	c.(628-630)ctG>ctA	p.L210L	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	210						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGCGCTTCTCCAGGGTGGCCA	0.617000														35			26		0	0	0.001786	0	0
TRPC1	7220	broad.mit.edu	37	3	142496493	142496493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142496493C>T	uc003evc.3	+	4	788	c.652C>T	c.(652-654)Cga>Tga	p.R218*	TRPC1_uc003evb.3_Nonsense_Mutation_p.R184*	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	218					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGATATATATCGATGTTTGGC	0.303000														28			16		0	0	0.004007	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982957	92982957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:92982957C>T	uc022axs.1	-	10	1832	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	RUNX1T1_uc003yfc.2_Missense_Mutation_p.V463I|RUNX1T1_uc010mam.3_Missense_Mutation_p.V463I|RUNX1T1_uc003yfe.2_Missense_Mutation_p.V453I|RUNX1T1_uc003yfd.3_Missense_Mutation_p.V490I|RUNX1T1_uc022axo.1_Missense_Mutation_p.V490I|RUNX1T1_uc010mao.3_Missense_Mutation_p.V463I|RUNX1T1_uc011lgi.2_Missense_Mutation_p.V501I|RUNX1T1_uc022axp.1_Missense_Mutation_p.V490I|RUNX1T1_uc022axq.1_Missense_Mutation_p.V490I|RUNX1T1_uc022axr.1_Missense_Mutation_p.V490I|RUNX1T1_uc022axt.1_Missense_Mutation_p.V490I|RUNX1T1_uc022axu.1_Missense_Mutation_p.V470I|RUNX1T1_uc022axv.1_Missense_Mutation_p.V490I|RUNX1T1_uc010man.2_Missense_Mutation_p.V115I|RUNX1T1_uc003yfb.2_Missense_Mutation_p.V453I	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.	490					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A548P(1)		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)			GCCTCGGCGACCGTGCGCTCC	0.602000														31			18		0	0	0.003330	0	0
C1orf210	149466	broad.mit.edu	37	1	43749039	43749039	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43749039C>T	uc001cit.4	-	2	137	c.-97_splice	c.e2-1		C1orf210_uc021omn.1_Splice_Site	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.							integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGCACAAGTCCTAGAAAATA	0.577000														5			3		0	0	0.004672	0	0
ACSS3	79611	broad.mit.edu	37	12	81568669	81568669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81568669C>T	uc001szl.1	+	7	1292	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	ACSS3_uc001szm.1_Missense_Mutation_p.R400C|ACSS3_uc001szn.1_Missense_Mutation_p.R83C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	401						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAGCAATCCGTCAACAGGA	0.507000														35			19		0	0	0.000958	0	0
FBXW7	55294	broad.mit.edu	37	4	153253840	153253840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:153253840G>A	uc003ims.3	-	5	1055	c.893C>T	c.(892-894)cCc>cTc	p.P298L	FBXW7_uc011cii.2_Missense_Mutation_p.P298L|FBXW7_uc003imt.3_Missense_Mutation_p.P298L|FBXW7_uc011cih.2_Missense_Mutation_p.P122L|FBXW7_uc003imq.3_Missense_Mutation_p.P218L|FBXW7_uc003imr.3_Missense_Mutation_p.P180L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	298	F-box.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.P298R(2)|p.P298S(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CAGGTCTTTGGGTTCCAGGAA	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									31			17		0	0	0.001216	0	0
AASDH	132949	broad.mit.edu	37	4	57215960	57215960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:57215960G>A	uc003hbn.3	-	10	2110	c.1957C>T	c.(1957-1959)Caa>Taa	p.Q653*	AASDH_uc010ihb.3_Nonsense_Mutation_p.Q168*|AASDH_uc003hbo.3_Nonsense_Mutation_p.Q553*|AASDH_uc011caa.2_Nonsense_Mutation_p.Q500*|AASDH_uc011cab.2_Nonsense_Mutation_p.Q168*|AASDH_uc010ihc.3_Nonsense_Mutation_p.Q653*|AASDH_uc003hbp.3_Nonsense_Mutation_p.Q653*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	653					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GCTTCCTCTTGATTAATGTCG	0.398000														105			69		0	0	0.003610	0	0
SIAH2	6478	broad.mit.edu	37	3	150460391	150460391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:150460391G>A	uc003eyi.3	-	1	1139	c.512C>T	c.(511-513)cCt>cTt	p.P171L		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	171	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAAGCACCAGGACATGGGCA	0.552000														40			25		0	0	0.004656	0	0
ZNF485	220992	broad.mit.edu	37	10	44112749	44112749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:44112749C>T	uc010qfc.2	+	4	1452	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	ZNF485_uc010qfd.2_Missense_Mutation_p.P329S	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAGCTTTTCCCCGAAGTTC	0.398000														24			14		0	0	0.002450	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469429	98469429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98469429C>T	uc001kmq.3	-	1	453	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	109						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGAACTCCTCGCTGTCCCGC	0.602000														36			29		0	0	0.001786	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554394	85554394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85554394C>T	uc001tac.3	+	23	4835	c.4724C>T	c.(4723-4725)tCc>tTc	p.S1575F		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1575										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)		TGTTTAGATTCCACTGTGCGT	0.343000														38			28		0	0	0.001786	0	0
SGSM1	129049	broad.mit.edu	37	22	25264418	25264418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25264418G>A	uc003abg.2	+	10	1227	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	SGSM1_uc010guu.1_Missense_Mutation_p.G357E|SGSM1_uc003abh.2_Missense_Mutation_p.G357E|SGSM1_uc003abj.2_Missense_Mutation_p.G357E|SGSM1_uc003abi.1_Missense_Mutation_p.G332E	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	357						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCAAGGGCGGGCACCTCCTG	0.642000														19			23		0	0	0.002780	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48135321	48135321	+	Silent	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48135321G>C	uc001rpz.4	-	18	2440	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_5'UTR|RAPGEF3_uc001rpx.3_Silent_p.L45L|RAPGEF3_uc010sln.2_Silent_p.L103L|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.L588L|RAPGEF3_uc009zkq.3_Silent_p.L588L	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	588					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.T629S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGACAACAAAGAGACGCTCAT	0.592000														44			18		0	0	0.001882	0	0
BCL9	607	broad.mit.edu	37	1	147087640	147087640	+	Missense_Mutation	SNP	A	G	G	rs139276872		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:147087640A>G	uc001epq.3	+	6	1338	c.598A>G	c.(598-600)Atc>Gtc	p.I200V	BCL9_uc010ozr.1_Missense_Mutation_p.I126V	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	200					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTTGAAACTATCGTCTCTTT	0.408000			T	"""IGH@, IGL@"""	B-ALL									52			62		0	0	0.003610	0	0
ZNRF1	84937	broad.mit.edu	37	16	75033985	75033985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:75033985C>T	uc010cgr.1	+	0	1071	c.416C>T	c.(415-417)tCg>tTg	p.S139L	ZNRF1_uc010vmz.1_Missense_Mutation_p.S139L|ZNRF1_uc002fdk.3_Missense_Mutation_p.S139L|ZNRF1_uc002fdl.1_Missense_Mutation_p.S139L	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	Homo sapiens zinc and ring finger 1 (ZNRF1), mRNA.	139						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						TGGTTCAGCTCGCATAGTGGT	0.672000														8			4		0	0	0.000602	0	0
LRRC52	440699	broad.mit.edu	37	1	165514118	165514118	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165514118C>T	uc001gde.2	+	0	641	c.585C>T	c.(583-585)ttC>ttT	p.F195F	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	195	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCCTGGACTTCGCCATCTTCT	0.512000														79			45		0	0	0.003610	0	0
SMPD2	6610	broad.mit.edu	37	6	109763178	109763178	+	Splice_Site	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109763178G>T	uc003pti.3	+	4	619	c.225_splice	c.e4-1	p.S75_splice	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	75					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGCTTTCAGCGGAATCATTGG	0.493000														185			6		0.00198382	0.00412773	0.001984	1	0
BAK1	578	broad.mit.edu	37	6	33541631	33541631	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33541631C>T	uc003oes.3	-	5	885	c.585G>A	c.(583-585)ctG>ctA	p.L195L	BAK1_uc003oer.3_Silent_p.L125L|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Silent_p.L195L|BAK1_uc003oeu.3_Silent_p.L136L	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	195					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	p.L195L(2)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GAACCACACCCAGAACCACCA	0.552000														16			12		0	0	0.001368	0	0
ISLR2	57611	broad.mit.edu	37	15	74427116	74427116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:74427116G>A	uc002axd.3	+	3	2790	c.2021G>A	c.(2020-2022)gGg>gAg	p.G674E	ISLR2_uc002axe.3_Missense_Mutation_p.G674E|ISLR2_uc010bjg.3_Missense_Mutation_p.G674E|ISLR2_uc010bjf.3_Missense_Mutation_p.G674E|ISLR2_uc021sqe.1_Missense_Mutation_p.G674E	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	674					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GACGTGCAGGGGGAGGGCCTT	0.672000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			19		0	0	0.001216	0	0
PPFIA2	8499	broad.mit.edu	37	12	81676811	81676811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81676811G>A	uc001szo.2	-	25	3157	c.2996C>T	c.(2995-2997)tCt>tTt	p.S999F	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S904F|PPFIA2_uc021rbh.1_Missense_Mutation_p.S900F|PPFIA2_uc021rbi.1_Missense_Mutation_p.S999F|PPFIA2_uc021rbj.1_Missense_Mutation_p.S978F|PPFIA2_uc021rbk.1_Missense_Mutation_p.S984F|PPFIA2_uc021rbl.1_Missense_Mutation_p.S999F|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Intron|PPFIA2_uc021rbf.1_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	904										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTTCCTCAGATTCTTTCTG	0.323000														29			19		0	0	0.002299	0	0
NLRP12	91662	broad.mit.edu	37	19	54312892	54312892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54312892C>T	uc002qcj.4	-	2	2241	c.2021G>A	c.(2020-2022)gGg>gAg	p.G674E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G674E|NLRP12_uc002qci.4_Missense_Mutation_p.G674E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G674E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	674					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.G674W(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGGTCTTCCCCGTCCGCGCT	0.612000														18			11		0	0	0.000978	0	0
NEBL	10529	broad.mit.edu	37	10	21115400	21115400	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:21115400C>T	uc001iqi.3	-	17	2242	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	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.	615					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						GCTGATTTTTCTTCACTCGTT	0.313000														112			64		0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460303	107460303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107460303G>A	uc002tdq.3	-	1	250	c.131C>T	c.(130-132)tCc>tTc	p.S44F	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S44F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S44F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	44					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						CTCCAGGAAGGAGAGGGAGCT	0.627000														16			10		0	0	0.000443	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822208	129822208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129822208C>T	uc009zyl.1	-	3	1598	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	424						integral to membrane		p.K423R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCAATCAAGTCCTTTGGGCTC	0.607000														53			34		0	0	0.004878	0	0
SPRR3	6707	broad.mit.edu	37	1	152975776	152975776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152975776C>T	uc021ozo.1	+	0	280	c.280C>T	c.(280-282)Cct>Tct	p.P94S	SPRR3_uc001fax.4_Missense_Mutation_p.P94S|SPRR3_uc001faz.4_Missense_Mutation_p.P94S|SPRR3_uc001fay.2_Missense_Mutation_p.P86S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	94	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCAAGGTCCCTGAGCCAGG	0.592000														20			22		0	0	0.003330	0	0
PNPT1	87178	broad.mit.edu	37	2	55920892	55920892	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:55920892G>A	uc002rzf.2	-	0	120	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	23					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGCCGTGGCAGAAGGAAAGGA	0.657000														34			18		0	0	0.002299	0	0
ERBB4	2066	broad.mit.edu	37	2	212652843	212652843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:212652843G>A	uc002veg.1	-	3	561	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	ERBB4_uc002veh.1_Missense_Mutation_p.L155F|ERBB4_uc010zji.1_Missense_Mutation_p.L155F|ERBB4_uc010zjj.1_Missense_Mutation_p.L155F|ERBB4_uc010fut.1_Missense_Mutation_p.L155F	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.	155					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATAACAAAGGAATTTGTTC	0.353000										TSP Lung(8;0.080)				32			16		0	0	0.004990	0	0
OR5F1	338674	broad.mit.edu	37	11	55761196	55761196	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55761196C>T	uc010riv.2	-	0	906	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAATTACATTCGCTAAAGCCT	0.383000														19			9		0	0	0.004482	0	0
ZFP14	57677	broad.mit.edu	37	19	36831947	36831947	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36831947A>G	uc010xtd.2	-	3	863	c.784T>C	c.(784-786)Tgt>Cgt	p.C262R	ZFP14_uc010eex.2_Missense_Mutation_p.C261R	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GCCTTTCCACATTCCTTACAT	0.433000														38			21		0	0	0.001882	0	0
ATP7B	540	broad.mit.edu	37	13	52511477	52511477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:52511477C>T	uc001vfw.2	-	18	4113	c.3956G>A	c.(3955-3957)cGa>cAa	p.R1319Q	ATP7B_uc001vfy.2_Missense_Mutation_p.R1208Q|ATP7B_uc010adv.2_Missense_Mutation_p.R889Q|ATP7B_uc001vfx.2_Missense_Mutation_p.R1112Q|ATP7B_uc010tgt.1_Missense_Mutation_p.R1254Q|ATP7B_uc010tgu.1_Missense_Mutation_p.R1271Q|ATP7B_uc010tgv.1_Missense_Mutation_p.R1241Q|ATP7B_uc001vfv.2_Missense_Mutation_p.R591Q|ATP7B_uc010tgs.1_Missense_Mutation_p.R530Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1319					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCGTATCCTTCGGACAGTCCT	0.542000									Wilson disease					26			37		0	0	0.005524	0	0
AFP	174	broad.mit.edu	37	4	74313315	74313315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74313315C>T	uc003hgz.1	+	7	1027	c.980C>T	c.(979-981)tCt>tTt	p.S327F	AFP_uc011cbg.1_Missense_Mutation_p.S101F	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	327	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGGTCTATCTCCAAATCTA	0.358000									Alpha-Fetoprotein, Hereditary Persistence of					42			20		0	0	0.002299	0	0
AANAT	15	broad.mit.edu	37	17	74465773	74465773	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74465773G>A	uc021udg.1	+	6	1487	c.480G>A	c.(478-480)ggG>ggA	p.G160G	AANAT_uc002jro.3_Silent_p.G115G|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	115	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						ACAGGTCTGGGGGCCACATAG	0.672000														0			7		0	0	0.003080	0	0
CCR9	10803	broad.mit.edu	37	3	45942730	45942730	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45942730G>A	uc003coz.2	+	2	630	c.450G>A	c.(448-450)caG>caA	p.Q150Q	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.Q138Q|CCR9_uc003cpa.2_Silent_p.Q138Q|CCR9_uc021wwv.1_Silent_p.Q138Q	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	150					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCATTGCCCAGGCCATGAGAG	0.478000														33			31		0	0	0.002445	0	0
FAT2	2196	broad.mit.edu	37	5	150924778	150924778	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:150924778C>T	uc003lue.4	-	8	5923	c.5910G>A	c.(5908-5910)caG>caA	p.Q1970Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1970	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTAGACATCCTGATCAAACT	0.478000														9			13		0	0	0.002450	0	0
NOC2L	26155	broad.mit.edu	37	1	888657	888657	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:888657G>A	uc009vjq.3	-	8	959	c.900C>T	c.(898-900)atC>atT	p.I300I	NOC2L_uc001aby.4_Silent_p.I97I|NOC2L_uc001abz.4_Silent_p.I300I	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	300			I -> V (in dbSNP:rs3748597).			nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTCCATACGATCACCATTC	0.627000														16			9		0	0	0.000978	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336938	162336938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162336938C>T	uc001gbv.2	+	9	1589	c.1202C>T	c.(1201-1203)tCg>tTg	p.S401L	NOS1AP_uc001gbw.2_Missense_Mutation_p.S396L|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Missense_Mutation_p.S106L	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	401					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GACCTGCATTCGCCGCCGCTG	0.657000														38			62		0	0	0.003610	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060226	128060226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:128060226C>T	uc003eki.3	+	4	975	c.937C>T	c.(937-939)Cat>Tat	p.H313Y		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	313						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCACACTGTCCATGCGGCCCT	0.592000														22			14		0	0	0.004007	0	0
MRVI1	10335	broad.mit.edu	37	11	10622540	10622540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10622540C>T	uc010rcc.1	-	14	2328	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	MRVI1_uc010rcb.1_Missense_Mutation_p.E640K|MRVI1_uc001miw.2_Missense_Mutation_p.E639K|MRVI1_uc001mix.3_Missense_Mutation_p.E333K|MRVI1_uc001miz.2_Missense_Mutation_p.E557K|MRVI1_uc010rcd.1_Missense_Mutation_p.E442K|MRVI1_uc009ygd.1_Missense_Mutation_p.E333K|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	621					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGTCCTTCTCATACGTCCTC	0.522000														111			75		0	0	0.003610	0	0
OTOS	150677	broad.mit.edu	37	2	241078729	241078729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241078729G>A	uc002vyv.3	-	3	283	c.128C>T	c.(127-129)tCc>tTc	p.S43F	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	43						extracellular region		p.S43S(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTCAGAGGTGGAGAAAGGCCA	0.617000														40			18		0	0	0.001216	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389501	150389501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150389501C>T	uc003who.3	+	2	215	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	43						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACAGCATCCTCAGGAAGCA	0.493000														3			35		0	0	0.003271	0	0
CACNA1E	777	broad.mit.edu	37	1	181767715	181767715	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181767715C>T	uc009wxt.3	+	47	6882	c.6687C>T	c.(6685-6687)tcC>tcT	p.S2229S	CACNA1E_uc001gow.3_Silent_p.S2186S|CACNA1E_uc009wxs.3_Silent_p.S2167S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2229					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						GCTACATCTCCGAGCCCTACT	0.612000														16			9		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9063558	9063558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9063558G>A	uc002mkp.3	-	2	24092	c.23888C>T	c.(23887-23889)cCc>cTc	p.P7963L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7963P(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						TTCCAGAAGGGGAGGGCTCAT	0.458000														30			25		0	0	0.002780	0	0
MUC7	4589	broad.mit.edu	37	4	71346675	71346675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71346675C>T	uc011cat.2	+	3	502	c.214C>T	c.(214-216)Cct>Tct	p.P72S	MUC7_uc011cau.2_Missense_Mutation_p.P72S|MUC7_uc003hfj.3_Missense_Mutation_p.P72S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	72						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACGCTGTAGGCCTAAGCTTCC	0.448000														46			46		0	0	0.003214	0	0
GDF2	2658	broad.mit.edu	37	10	48414412	48414412	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:48414412G>A	uc001jfa.1	-	1	616	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	152					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGAGACATAGAGTCGGAGCT	0.498000														29			11		0	0	0.001855	0	0
AP3S1	1176	broad.mit.edu	37	5	115249169	115249169	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:115249169C>T	uc003krl.3	+	5	680	c.564C>T	c.(562-564)aaC>aaT	p.N188N	AP3S1_uc003krk.3_Silent_p.N166N	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	188					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AAGTGCCAAACCTGCCCTCTT	0.398000														66			19		0	0	0.001882	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093726	30093726	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:30093726C>T	uc010dmc.3	+	0		c.2101C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		ATGAGGATTTCATGAAAGAGA	0.453000														10			9		0	0	0.004482	0	0
EPHB3	2049	broad.mit.edu	37	3	184297596	184297596	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184297596G>A	uc003foz.3	+	10	2483	c.2046G>A	c.(2044-2046)gaG>gaA	p.E682E		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	682	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTAAGCGAGGCCTCCATCA	0.567000														25			22		0	0	0.002299	0	0
SPTA1	6708	broad.mit.edu	37	1	158615042	158615042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158615042C>T	uc001fst.1	-	28	4329	c.4130G>A	c.(4129-4131)aGa>aAa	p.R1377K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1377					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)					CAAATCATCTCTCTCTAGCTT	0.463000														70			77		0	0	0.003610	0	0
IGF1	3479	broad.mit.edu	37	12	102869512	102869512	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:102869512G>A	uc001tjp.4	-	1	348	c.129C>T	c.(127-129)acC>acT	p.T43T	IGF1_uc001tjn.2_Silent_p.T27T|IGF1_uc001tjm.2_Silent_p.T43T|IGF1_uc001tjo.2_Silent_p.T43T	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	43					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TGGCAGAGCTGGTGAAGGTGA	0.577000														33			13		0	0	0.002450	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995379	10995379	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:10995379G>A	uc003mzp.4	-	4	527	c.366C>T	c.(364-366)tcC>tcT	p.S122S		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	122					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CTACTGATTTGGAGAAATAGT	0.408000														32			18		0	0	0.001882	0	0
COL24A1	255631	broad.mit.edu	37	1	86315041	86315041	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86315041T>A	uc001dlj.3	-	37	3424	c.3349A>T	c.(3349-3351)Aaa>Taa	p.K1117*	COL24A1_uc001dli.3_Nonsense_Mutation_p.K253*|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Nonsense_Mutation_p.K417*|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.	1117	Collagen-like 11.				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)		ATTACCTTTTTTCCTGGACGA	0.343000														89			55		0	0	0.003610	0	0
RADIL	55698	broad.mit.edu	37	7	4845237	4845237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:4845237C>T	uc003snj.1	-	9	2423	c.2250G>A	c.(2248-2250)tgG>tgA	p.W750*	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Nonsense_Mutation_p.W255*|RADIL_uc011jwc.1_Nonsense_Mutation_p.W510*|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_5'Flank	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	750	Dilute.				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)		CCCCTGGCTCCCAGGTGCTCA	0.711000														19			13		0	0	0.001368	0	0
MYT1L	23040	broad.mit.edu	37	2	1926908	1926908	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1926908G>A	uc002qxe.3	-	9	1460	c.633C>T	c.(631-633)atC>atT	p.I211I	MYT1L_uc002qxd.3_Silent_p.I211I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	211					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATCCTCAGCGATTTTGCCGA	0.438000														19			34		0	0	0.003271	0	0
LAMC1	3915	broad.mit.edu	37	1	183072564	183072564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:183072564C>T	uc001gpy.4	+	1	777	c.520C>T	c.(520-522)Cct>Tct	p.P174S	LAMC1_uc001gpx.3_Missense_Mutation_p.P174S	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	174	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCTGGATTCCTTACCAGTA	0.547000														35			36		0	0	0.004289	0	0
ADCY2	108	broad.mit.edu	37	5	7817040	7817041	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:7817040_7817041GG>AT	uc003jdz.1	+	22	3012_3013	c.2945_2946GG>AT	c.(2944-2946)ggg>gAT	p.G982D	ADCY2_uc011cmo.1_Missense_Mutation_p.G802D|ADCY2_uc010itm.1_Missense_Mutation_p.G178D	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	982					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCCTGGTAGGGAAGCTGGATG	0.510000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			22		0	0	0.004672	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153847442	153847442	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:153847442G>A	uc021xgc.1	+	3	1487	c.1203G>A	c.(1201-1203)caG>caA	p.Q401Q	ARHGEF26_uc011bog.1_Silent_p.Q401Q|ARHGEF26_uc011boh.1_Silent_p.Q401Q	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	401					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCAAAGAACAGAAGTCAGATG	0.413000														19			10		0	0	0.000443	0	0
MRE11A	4361	broad.mit.edu	37	11	94163119	94163119	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:94163119G>A	uc009ywj.2	-	18	2357	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S	MRE11A_uc001peu.2_Silent_p.S676S|MRE11A_uc001pev.2_Silent_p.S648S			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	676					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTGACTCTGGGACATGATTT	0.313000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					23			15		0	0	0.004990	0	0
CLGN	1047	broad.mit.edu	37	4	141317334	141317334	+	Missense_Mutation	SNP	C	T	T	rs151290768		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141317334C>T	uc011chi.2	-	9	1128	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	CLGN_uc003iii.3_Missense_Mutation_p.E304K	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	304					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGAATCTTCTATTTGGGCA	0.358000														85			55		0	0	0.003610	0	0
IL18RAP	8807	broad.mit.edu	37	2	103039762	103039762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103039762C>T	uc002tbx.3	+	2	509	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	IL18RAP_uc010fiz.3_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	9					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTGGATATTTCTTTGGCTTGT	0.408000														77			54		0	0	0.003610	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345542	24345542	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:24345542G>A	uc010edb.1	-	0		c.708C>T								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AGAGTGCAATGGTGAGCTGGT	0.468000														141			90		0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117674156	117674156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117674156G>A	uc003pxp.1	-	25	4517	c.4318C>T	c.(4318-4320)Cca>Tca	p.P1440S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1440					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P1440S(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTATTACCTGGAAAAGGCTGC	0.443000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									41			22		0	0	0.003954	0	0
THEMIS	387357	broad.mit.edu	37	6	128176254	128176254	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:128176254C>T	uc011ebt.2	-	1	320	c.171G>A	c.(169-171)aaG>aaA	p.K57K	THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Silent_p.K57K|THEMIS_uc010kfb.3_Silent_p.K22K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	57	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTATGATCTTCTTAACTTTGA	0.353000														34			16		0	0	0.003163	0	0
ABCC1	4363	broad.mit.edu	37	16	16101672	16101672	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:16101672G>A	uc010bvi.3	+	2	224	c.49_splice	c.e2-1	p.D17_splice	ABCC1_uc010bvj.3_Splice_Site_p.D17_splice|ABCC1_uc010bvk.3_Splice_Site_p.D17_splice|ABCC1_uc010bvl.3_Splice_Site_p.D17_splice|ABCC1_uc010bvm.3_Splice_Site_p.D17_splice|ABCC1_uc002del.4_5'Flank	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	17					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTGTTCGCAGGACTGGAATG	0.562000														24			13		0	0	0.001368	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30952040	30952040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30952040C>T	uc003aig.1	-	3	312	c.172G>A	c.(172-174)Gag>Aag	p.E58K	GAL3ST1_uc003aih.1_Missense_Mutation_p.E58K|GAL3ST1_uc003aii.1_Missense_Mutation_p.E58K|GAL3ST1_uc010gvz.1_Missense_Mutation_p.E58K	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	58					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCTCTGGCTCGAGTGCAGGT	0.692000														27			18		0	0	0.002780	0	0
PDE1B	5153	broad.mit.edu	37	12	54968957	54968957	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54968957C>T	uc001sgd.2	+	10	1533	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	PDE1B_uc010soz.2_Silent_p.V243V|PDE1B_uc010spa.1_Silent_p.V339V|PDE1B_uc001sge.3_Silent_p.V360V|PDE1B_uc001sgf.3_Silent_p.V243V|PDE1B_uc009znq.3_Silent_p.V176V	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	380	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGTGGTTGGTCCACAGCCGTT	0.577000														46			24		0	0	0.004656	0	0
CACNG3	10368	broad.mit.edu	37	16	24366154	24366154	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24366154G>A	uc002dmf.3	+	3	1498	c.296_splice	c.e3-1	p.R99_splice		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	99					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R99Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTCTCCGCAGGAGCTGTGAGG	0.637000														28			16		0	0	0.004007	0	0
POP1	10940	broad.mit.edu	37	8	99149177	99149177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:99149177C>T	uc003yij.4	+	8	1457	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	POP1_uc011lgv.2_Missense_Mutation_p.H453Y|POP1_uc003yik.3_Missense_Mutation_p.H453Y	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	453					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGCTTCTGTCCACACTGTAAG	0.378000														46			81		0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106128210	106128210	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106128210C>T	uc001kyh.3	+	5	956	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	274										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAAAGGAACTCGAGCAATTTC	0.423000														18			13		0	0	0.002450	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558447	53558447	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:53558447G>A	uc021onn.1	-	6	978	c.810C>T	c.(808-810)ttC>ttT	p.F270F	SLC1A7_uc021onm.1_Silent_p.F198F|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.F270F|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	270						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)	ACACAATGCCGAAGGGGAAAT	0.672000														24			16		0	0	0.004990	0	0
OR10P1	121130	broad.mit.edu	37	12	56031264	56031264	+	Missense_Mutation	SNP	G	A	A	rs141032808	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56031264G>A	uc010spq.2	+	0	589	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCACAGGAGCGAGATCTCCGT	0.532000														45			35		0	0	0.003755	0	0
ANK3	288	broad.mit.edu	37	10	61834107	61834107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61834107G>A	uc001jky.3	-	36	6870	c.6532C>T	c.(6532-6534)Ccc>Tcc	p.P2178S	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.	2178					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D2177Y(1)		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						CCAGCTGAGGGATCATAGCTC	0.473000														64			33		0	0	0.002445	0	0
ZNF498	221785	broad.mit.edu	37	7	99227197	99227197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99227197C>T	uc003url.1	+	7	1516	c.1189C>T	c.(1189-1191)Cac>Tac	p.H397Y	ZNF498_uc003urm.1_Missense_Mutation_p.H233Y|ZNF498_uc010lge.1_Missense_Mutation_p.H233Y|ZNF498_uc003urn.3_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.H325Y|ZNF498_uc003uro.1_Missense_Mutation_p.H181Y	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	397					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)					CCAGAGAACCCACCTGGGAAA	0.582000														17			29		0	0	0.005443	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187814	133187814	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133187814G>A	uc003ytj.3	-	4	1044	c.819C>T	c.(817-819)atC>atT	p.I273I	KCNQ3_uc003yti.3_Silent_p.I153I|KCNQ3_uc010mdt.3_Silent_p.I273I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	273					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGAAGAAAGGATGAGTGTCA	0.488000														30			20		0	0	0.001523	0	0
KIF2B	84643	broad.mit.edu	37	17	51900681	51900681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:51900681C>T	uc002iua.2	+	0	443	c.287C>T	c.(286-288)tCc>tTc	p.S96F	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	96					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGCCCTTATCCCCCTTGGCT	0.577000														16			104		0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153085554	153085554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153085554G>A	uc011dcy.2	+	10	1807	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	GRIA1_uc003lva.4_Missense_Mutation_p.E584K|GRIA1_uc003luy.4_Missense_Mutation_p.E584K|GRIA1_uc003luz.4_Missense_Mutation_p.E489K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E504K|GRIA1_uc011dcx.2_Missense_Mutation_p.E515K|GRIA1_uc011dcz.2_Missense_Mutation_p.E594K|GRIA1_uc010jia.1_Missense_Mutation_p.E564K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	584					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)	CCAGTCCAATGAGTTTGGGAT	0.507000														13			24		0	0	0.003954	0	0
SPAG17	200162	broad.mit.edu	37	1	118609430	118609430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:118609430C>T	uc001ehk.2	-	17	2546	c.2478G>A	c.(2476-2478)atG>atA	p.M826I	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	826						cilium|flagellar axoneme|microtubule		p.M826I(2)		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)		GTTGTCTATTCATTGGATTGT	0.358000														45			34		0	0	0.003271	0	0
EDA2R	60401	broad.mit.edu	37	X	65825019	65825019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:65825019G>A	uc004dwt.2	-	1	147	c.137C>T	c.(136-138)cCt>cTt	p.P46L	EDA2R_uc004dwr.3_Missense_Mutation_p.P46L|EDA2R_uc004dws.3_Missense_Mutation_p.P46L|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Intron|EDA2R_uc004dwq.3_Missense_Mutation_p.P46L|EDA2R_uc022byh.1_Missense_Mutation_p.P46L	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	46					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GTACCTGCGAGGAGGGCAGGC	0.512000														0			8		0	0	0.000443	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037922	36037922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36037922C>T	uc003jjz.2	-	5	1404	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	UGT3A2_uc011cos.2_Missense_Mutation_p.M390I|UGT3A2_uc011cot.2_Missense_Mutation_p.M122I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	424						integral to membrane	glucuronosyltransferase activity	p.M424I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATTTGTTTCATCTTAAGAG	0.428000														90			37		0	0	0.003610	0	0
SLC7A6	9057	broad.mit.edu	37	16	68309089	68309089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68309089C>T	uc002evt.2	+	3	773	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	SLC7A6_uc010cfb.2_Non-coding_Transcript|SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Missense_Mutation_p.P154S|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	154					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CATCATCCAGCCGTCCTTCCC	0.587000														46			31		0	0	0.003755	0	0
LRP5L	91355	broad.mit.edu	37	22	25753304	25753304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25753304G>A	uc003abs.3	-	1	2821	c.356C>T	c.(355-357)tCc>tTc	p.S119F	LRP5L_uc011ajz.2_Missense_Mutation_p.S119F|LRP5L_uc010guw.1_Missense_Mutation_p.S119F	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	119								p.S119>?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCACCCGAGGGAAGCATTGAC	0.602000														58			16		0	0	0.004990	0	0
PRMT1	3276	broad.mit.edu	37	19	50187245	50187245	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50187245C>T	uc010enf.2	+	5	603	c.474C>T	c.(472-474)atC>atT	p.I158I	PRMT1_uc021uxu.1_Silent_p.I134I|PRMT1_uc002ppe.3_Silent_p.I140I|PRMT1_uc021uxv.1_Silent_p.I140I|PRMT1_uc010yba.2_Non-coding_Transcript	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	139						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AGGTGGACATCATCATCAGCG	0.632000														30			15		0	0	0.002450	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681049	176681049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176681049G>A	uc001gkz.3	+	11	4894	c.3730G>A	c.(3730-3732)Gaa>Aaa	p.E1244K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1244					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						CAGTGAAAATGAAACTCAGGA	0.448000														27			43		0	0	0.001951	0	0
NLRP2	55655	broad.mit.edu	37	19	55495086	55495086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55495086G>A	uc021vbq.1	+	5	2131	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	NLRP2_uc010yfp.2_Missense_Mutation_p.E651K|NLRP2_uc002qij.3_Missense_Mutation_p.E674K|NLRP2_uc010esp.3_Missense_Mutation_p.E652K|NLRP2_uc010esn.3_Missense_Mutation_p.E650K|NLRP2_uc010eso.3_Missense_Mutation_p.E671K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	674					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)		ATCAGACGCCGAGGTTGAGAG	0.512000														31			29		0	0	0.002445	0	0
KRT1	3848	broad.mit.edu	37	12	53071153	53071153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53071153C>T	uc001sau.1	-	4	1134	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	KRT1_uc001sav.1_Missense_Mutation_p.E359K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	359	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GCTATATCCTCGTACTGGGCC	0.507000														40			13		0	0	0.001368	0	0
CRYGS	1427	broad.mit.edu	37	3	186257173	186257173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186257173G>A	uc003fqe.3	-	1	287	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	79	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens	p.R79C(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GAGCTGAGGCGGTCGTTGAGG	0.537000														18			9		0	0	0.004482	0	0
GLIS1	148979	broad.mit.edu	37	1	54060297	54060297	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:54060297G>A	uc001cvr.1	-	2	846	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	93					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						GAGACGTCTGGGAGGAGCGGA	0.677000														34			7		0	0	0.003080	0	0
OR7G1	125962	broad.mit.edu	37	19	9226317	9226317	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9226317C>T	uc021uoi.1	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G	OR7G1_uc002mks.1_Silent_p.G41G	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGAGCAGGTTCCCCAGGATGG	0.473000														66			53		0	0	0.003610	0	0
PHKA2	5256	broad.mit.edu	37	X	18972393	18972393	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:18972393G>A	uc004cyv.4	-	1	646	c.216C>T	c.(214-216)gcC>gcT	p.A72A	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Silent_p.A14A	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	72					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTAGGCCTTGGCCTTGTCCT	0.552000														10			30		0	0	0.004289	0	0
CD5L	922	broad.mit.edu	37	1	157804520	157804520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157804520G>A	uc001frk.4	-	3	538	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	132					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGACTGGGGAGAAAGAGCT	0.567000														52			18		0	0	0.000958	0	0
TMTC1	83857	broad.mit.edu	37	12	29725121	29725121	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:29725121G>A	uc021qwi.1	-	8	1508	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	TMTC1_uc001riz.3_Silent_p.A132A|TMTC1_uc001rja.3_Silent_p.A219A|TMTC1_uc001rjb.3_Silent_p.A375A|TMTC1_uc001rjc.1_Silent_p.A437A	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	483						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTGAACCTTGGCATTGTGGG	0.388000														38			27		0	0	0.002096	0	0
CNGA1	1259	broad.mit.edu	37	4	47939397	47939397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47939397C>T	uc003gxu.3	-	9	1462	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.D372N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	372					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTCAGAATCCCTCACGGGA	0.418000														99			64		0	0	0.003610	0	0
AMPH	273	broad.mit.edu	37	7	38534094	38534094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:38534094G>A	uc003tgu.3	-	3	455	c.239C>T	c.(238-240)tCg>tTg	p.S80L	AMPH_uc003tgv.3_Missense_Mutation_p.S80L	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	80	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						TTCATGCAGCGACTCTGTGAG	0.532000														56			58		0	0	0.003610	0	0
UNC13A	23025	broad.mit.edu	37	19	17756525	17756525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17756525C>T	uc021uqk.1	-	18	2353	c.2311G>A	c.(2311-2313)Gtg>Atg	p.V771M		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	772					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.V770E(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGCGTCCGCACCTCAATGATC	0.597000														16			4		0	0	0.001168	0	0
CNTN5	53942	broad.mit.edu	37	11	100170081	100170081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100170081G>A	uc001pga.3	+	19	3077	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E	CNTN5_uc001pfz.3_Missense_Mutation_p.G858E|CNTN5_uc021qpb.1_Missense_Mutation_p.G858E|CNTN5_uc021qpc.1_Missense_Mutation_p.G784E|CNTN5_uc010ruk.2_Missense_Mutation_p.G129E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	858	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AACAATAAAGGAGATGGGCCT	0.348000														52			35		0	0	0.001951	0	0
BLNK	29760	broad.mit.edu	37	10	97976426	97976426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97976426G>A	uc001kls.4	-	6	768	c.590C>T	c.(589-591)tCa>tTa	p.S197L	BLNK_uc001kme.4_Missense_Mutation_p.S115L|BLNK_uc001klt.4_Missense_Mutation_p.S111L|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.S115L|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.S197L|BLNK_uc001kly.4_Missense_Mutation_p.S197L|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.S197L|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.S115L|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	197	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGGTGGAGGTGAACTGCTTTC	0.383000														29			17		0	0	0.004990	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20240717	20240717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:20240717G>A	uc002rdm.3	-	1	675	c.167C>T	c.(166-168)tCc>tTc	p.S56F	LAPTM4A_uc010yjx.2_Missense_Mutation_p.S56F	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.	56					transport	Golgi apparatus|endomembrane system|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGGCATGGAGTTTGGATG	0.373000														45			35		0	0	0.001485	0	0
ASXL1	171023	broad.mit.edu	37	20	31016187	31016187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:31016187C>T	uc021wbw.1	+	5	865	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	ASXL1_uc002wxr.2_Non-coding_Transcript|ASXL1_uc002wxs.3_Missense_Mutation_p.L144F|ASXL1_uc010geb.3_Missense_Mutation_p.L87F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	145					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTCGACCTCTTTCCAATCC	0.478000			"""F, N, Mis"""		"""MDS, CMML"""									61			112		0	0	0.003610	0	0
TSPY2	64591	broad.mit.edu	37	Y	6114348	6114348	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrY:6114348G>A	uc004fqr.1	+	0	85	c.39G>A	c.(37-39)gaG>gaA	p.E13E	TTTY23_uc004fqq.1_5'Flank|TSPY2_uc004fqs.1_Silent_p.E13E	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN	Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA.	13					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						GGGTGCCAGAGAGGCTGCGGC	0.716000														3			15		0	0	0.000743	0	0
EPHA2	1969	broad.mit.edu	37	1	16458927	16458927	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16458927G>A	uc001aya.2	-	11	2216	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	687	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGATCATCATGGGCTTGTCTG	0.597000														31			22		0	0	0.002780	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31120239	31120239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31120239G>A	uc003tca.2	+	4	566	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E93K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E93K|ADCYAP1R1_uc003tcb.2_Intron|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E93K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	93					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						CTGGGAGACCGAAACCATTGG	0.562000														21			15		0	0	0.001216	0	0
CASZ1	54897	broad.mit.edu	37	1	10709446	10709446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10709446C>T	uc001aro.3	-	13	3249	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	CASZ1_uc001arp.1_Missense_Mutation_p.E977K	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCTCCGCTTCCGCCTTGATG	0.637000														12			5		0	0	0.000602	0	0
C1orf131	128061	broad.mit.edu	37	1	231374694	231374694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:231374694G>A	uc001hul.3	-	1	396	c.359C>T	c.(358-360)tCc>tTc	p.S120F	C1orf131_uc001hum.3_Missense_Mutation_p.S120F|C1orf131_uc001hun.1_Missense_Mutation_p.S120F|C1orf131_uc010pwd.1_Missense_Mutation_p.S120F|C1orf131_uc001huo.1_Missense_Mutation_p.S120F|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.4_5'Flank|GNPAT_uc009xfp.3_5'Flank	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	120										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTTCTTTAGGGAAGAGGGAGG	0.448000														27			45		0	0	0.003610	0	0
IL37	27178	broad.mit.edu	37	2	113675276	113675276	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113675276C>T	uc002tij.3	+	3	372	c.330C>T	c.(328-330)ctC>ctT	p.L110L	IL37_uc002tim.3_Silent_p.L49L|IL37_uc002tik.3_Silent_p.L89L|IL37_uc002til.3_Silent_p.L70L|IL37_uc002tin.3_Silent_p.L84L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	110					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						GTCCGATTCTCCTGGGGGTCT	0.473000														78			51		0	0	0.003610	0	0
QSOX1	5768	broad.mit.edu	37	1	180165992	180165992	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:180165992C>T	uc001gnz.3	+	11	2139	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	688					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCTGGAGGCCCGAGCTGGAC	0.667000														29			18		0	0	0.000958	0	0
OXCT2	64064	broad.mit.edu	37	1	40235396	40235396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40235396G>A	uc001ceb.1	-	0	1625	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	511					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTGCTGCATGGGCCTGAGGTT	0.647000														23			4		0	0	0.000602	0	0
MXRA5	25878	broad.mit.edu	37	X	3229200	3229200	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3229200G>A	uc004crg.4	-	6	7201	c.7044C>T	c.(7042-7044)atC>atT	p.I2348I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2348	Ig-like C2-type 8.					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)				TCTTGTTCCGGATGGTGGCGG	0.557000														8			49		0	0	0.003610	0	0
EHMT1	79813	broad.mit.edu	37	9	140638380	140638380	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:140638380C>T	uc011mfc.2	+	5	1045	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	EHMT1_uc004coa.3_Silent_p.S336S|EHMT1_uc004cob.1_Silent_p.S305S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	336					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCGCCAGCAGCCTGCACGTGA	0.612000														2			14		0	0	0.002450	0	0
LAMB4	22798	broad.mit.edu	37	7	107664613	107664613	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107664613C>T	uc010ljo.1	-	33	5241	c.5157G>A	c.(5155-5157)agG>agA	p.R1719R	LAMB4_uc003vey.2_Silent_p.R1719R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1719	Domain I.				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						CTTGGATTTTCCTTTCTAAAT	0.318000														21			8		0	0	0.004482	0	0
PTPRD	5789	broad.mit.edu	37	9	8341692	8341692	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:8341692C>T	uc003zkk.3	-	40	5690	c.4947_splice	c.e40+1	p.K1649_splice	PTPRD_uc003zkp.3_Splice_Site_p.K1243_splice|PTPRD_uc003zkq.3_Splice_Site_p.K1242_splice|PTPRD_uc003zkr.3_Splice_Site_p.K1233_splice|PTPRD_uc003zks.3_Splice_Site_p.K1242_splice|PTPRD_uc022bdj.1_Splice_Site_p.K1239_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1649	Tyrosine-protein phosphatase 2.				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)		CAATACCATACCTTAAATTCG	0.403000										TSP Lung(15;0.13)				22			44		0	0	0.003610	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605429	140605429	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140605429G>A	uc003ljb.3	+	0	2352	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	784					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAATATGGGGGAAATCGAGA	0.373000														15			25		0	0	0.002780	0	0
C7	730	broad.mit.edu	37	5	40955600	40955600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:40955600G>A	uc003jmh.3	+	9	1319	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	402	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AACAAAAGGCGATATTCTGCC	0.438000														95			56		0	0	0.003610	0	0
SYN2	6854	broad.mit.edu	37	3	12228889	12228889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:12228889G>A	uc003bwm.3	+	14	1542	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SYN2_uc003bwn.3_Missense_Mutation_p.G138R	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	464					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCAACCCCAAGGAATGCAGCC	0.522000														32			26		0	0	0.001061	0	0
PKP2	5318	broad.mit.edu	37	12	32955374	32955374	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:32955374C>T	uc001rlj.4	-	10	2377	c.2262G>A	c.(2260-2262)agG>agA	p.R754R	PKP2_uc001rlk.4_Silent_p.R710R|PKP2_uc010skj.2_Silent_p.R707R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	754					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R754K(1)|p.R754M(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGGACAGATTCCTCAGCAGCG	0.448000														93			50		0	0	0.003610	0	0
ITGAX	3687	broad.mit.edu	37	16	31367986	31367986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:31367986C>T	uc002ebt.3	+	2	251	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	ITGAX_uc010cao.1_Nonsense_Mutation_p.Q62*|ITGAX_uc002ebu.1_Nonsense_Mutation_p.Q62*	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	62					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGCCAACCAAACGGGTGG	0.622000														12			7		0	0	0.004482	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998244	108998244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108998244G>A	uc002tea.1	+	1	569	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.E66K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	66					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGATAGTGGAATTAATACA	0.373000														21			20		0	0	0.001216	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761883	130761883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:130761883C>T	uc003qcb.3	+	1	2694	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	TMEM200A_uc003qca.3_Missense_Mutation_p.R106W|TMEM200A_uc010kfh.3_Missense_Mutation_p.R106W|TMEM200A_uc010kfi.3_Missense_Mutation_p.R106W|TMEM200A_uc021zfg.1_Missense_Mutation_p.R106W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	106						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCAGGTCATTCGGAATGAAGG	0.418000														34			33		0	0	0.002445	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534363	3534363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:3534363C>T	uc002kmf.3	-	9	2835	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D770N|DLGAP1_uc010dkn.3_Missense_Mutation_p.D478N|DLGAP1_uc002kme.2_Missense_Mutation_p.D468N|DLGAP1_uc010wyw.2_Missense_Mutation_p.D476N|DLGAP1_uc010wyx.2_Missense_Mutation_p.D492N|DLGAP1_uc010wyy.2_Missense_Mutation_p.D454N|DLGAP1_uc002kmg.3_Missense_Mutation_p.D468N	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	770					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATCCAGGGGTCCGGAGGAGGC	0.562000														18			10		0	0	0.000673	0	0
COL11A2	1302	broad.mit.edu	37	6	33157101	33157101	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33157101G>A	uc003ocx.1	-	1	456	c.228C>T	c.(226-228)ttC>ttT	p.F76F	COL11A2_uc003ocy.1_Silent_p.F76F|COL11A2_uc003ocz.1_Silent_p.F76F|COL11A2_uc003oda.3_Silent_p.F76F	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	76	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATACCTGGGAAAAGCTGGC	0.617000														9			10		0	0	0.001368	0	0
GLI2	2736	broad.mit.edu	37	2	121745959	121745959	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:121745959C>T	uc010flp.3	+	12	2499	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S	GLI2_uc002tmq.1_Silent_p.S495S|GLI2_uc002tmr.1_Silent_p.S478S|GLI2_uc002tmt.4_Silent_p.S495S|GLI2_uc002tmu.4_Silent_p.S478S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	823	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGCCGCTCCTCCGGCATCT	0.721000														4			4		0	0	0.000602	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379199	23379199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23379199C>T	uc002dln.3	+	4	975	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	267			P -> L (in BESC1; decreased channel activity).		excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CATCTTCTACCCTCACTATGG	0.517000														50			31		0	0	0.003271	0	0
RLBP1	6017	broad.mit.edu	37	15	89755083	89755083	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:89755083T>A	uc002bnl.3	-	6	955	c.575A>T	c.(574-576)gAa>gTa	p.E192V		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	192	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GATTTGAGTTTCCTCATTCTC	0.468000														29			19		0	0	0.000743	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625095	108625095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108625095C>T	uc002tdv.3	+	7	1346	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	SLC5A7_uc010ywm.2_Missense_Mutation_p.S110F|SLC5A7_uc010fjj.3_Missense_Mutation_p.S357F|SLC5A7_uc010ywn.2_Missense_Mutation_p.S244F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	357					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)	TCAGCAAGTTCCATGTTTGCA	0.418000														30			20		0	0	0.004656	0	0
VPREB1	7441	broad.mit.edu	37	22	22599544	22599544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:22599544G>A	uc002zvx.1	+	1	259	c.233G>A	c.(232-234)aGc>aAc	p.S78N	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	78	Complementarity-determining-2.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCAGACAAGAGCCAGGGCCCC	0.582000														44			31		0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	8996339	8996339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8996339C>T	uc002mkp.3	-	60	41437	c.41233G>A	c.(41233-41235)Gac>Aac	p.D13745N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D562N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13747	SEA 11.			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						AAGAGGCTGTCGTTGTCCAGG	0.542000														86			61		0	0	0.003610	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517962	84517962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:84517962G>A	uc010ffz.1	+	0	157	c.20G>A	c.(19-21)gGa>gAa	p.G7E						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		TCCAGTCAAGGAAACTTTGAG	0.577000														9			9		0	0	0.004482	0	0
GALNTL2	117248	broad.mit.edu	37	3	16216934	16216934	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:16216934G>A	uc003car.4	+	0	751	c.276G>A	c.(274-276)gaG>gaA	p.E92E	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	92						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CACTGCGGGAGGATCAGCTGC	0.612000														15			9		0	0	0.000673	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489605	110489605	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110489605G>A	uc003yne.3	+	52	9173	c.9069G>A	c.(9067-9069)aaG>aaA	p.K3023K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3023					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)			CAATTCCCAAGAAGCGACCAG	0.388000										HNSCC(38;0.096)				60			20		0	0	0.001216	0	0
CSMD3	114788	broad.mit.edu	37	8	113293423	113293423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113293423C>T	uc003ynu.3	-	58	9647	c.9488G>A	c.(9487-9489)gGa>gAa	p.G3163E	CSMD3_uc003yns.3_Missense_Mutation_p.G2365E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3123E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2994E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3163	Sushi 23.					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						AGGTAAAGTTCCAGACCATGT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				78			23		0	0	0.003330	0	0
TOX2	84969	broad.mit.edu	37	20	42693416	42693416	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42693416G>A	uc010ggo.3	+	6	920	c.880_splice	c.e6-1	p.A294_splice	TOX2_uc002xle.4_Splice_Site_p.A252_splice|TOX2_uc010ggp.3_Splice_Site_p.A252_splice|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Splice_Site_p.A172_splice	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GACTCTTCCAGGCCTACAAGA	0.542000														43			86		0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300637	103300637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103300637C>T	uc002tca.3	+	4	1409	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	423						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGACCATTCCCCTGACCTT	0.463000														46			27		0	0	0.005443	0	0
OR6C4	341418	broad.mit.edu	37	12	55945717	55945717	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55945717T>A	uc010spp.2	+	0	707	c.707T>A	c.(706-708)tTt>tAt	p.F236Y		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACAAAGGCCTTTTCCACTTGT	0.448000														31			34		0	0	0.001485	0	0
C12orf63	374467	broad.mit.edu	37	12	97084957	97084957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:97084957C>T	uc021rcc.1	+	10	1486	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	470										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						TTGCTATGCTCAATATGAAAT	0.373000														59			39		0	0	0.002522	0	0
PRLR	5618	broad.mit.edu	37	5	35065964	35065964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35065964C>T	uc003jjm.3	-	9	1655	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	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.E265K|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	366					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)	GCCTGGGGTTCCTCACACTTT	0.527000														26			16		0	0	0.004990	0	0
ZNF445	353274	broad.mit.edu	37	3	44492900	44492900	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44492900G>A	uc003cnf.2	-	3	852	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ZNF445_uc011azv.1_Silent_p.S168S|ZNF445_uc011azw.1_Silent_p.S168S	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	168					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W167L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTGAAGCAAGGGACCATATCT	0.572000														50			30		0	0	0.002445	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419046	85419046	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85419046C>T	uc003hpa.1	-	0	342	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	112	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCAGGGCGGCCCCCGAGGCCA	0.751000														3			4		0	0	0.000248	0	0
CTIF	9811	broad.mit.edu	37	18	46385731	46385732	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:46385731_46385732GG>AA	uc002ldd.3	+	12	1963_1964	c.1604_1605GG>AA	c.(1603-1605)cgg>cAA	p.R535Q	CTIF_uc002ldc.3_Missense_Mutation_p.R533Q|CTIF_uc002lde.4_Missense_Mutation_p.R162Q	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	533	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGTACAGGCCGGCTGCTGGAGG	0.634000														39			34		0	0	0.004672	0	0
CCDC37	348807	broad.mit.edu	37	3	126142440	126142440	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:126142440G>C	uc010hsg.1	+	11	1301	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	CCDC37_uc003eiu.1_Missense_Mutation_p.K413N	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	413										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGACGGAGAAGACCCTGGAGG	0.612000														28			15		0	0	0.004990	0	0
SUSD2	56241	broad.mit.edu	37	22	24584090	24584090	+	Silent	SNP	G	A	A	rs114640245	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:24584090G>A	uc002zzn.1	+	12	2372	c.2328G>A	c.(2326-2328)ccG>ccA	p.P776P		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	776	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.T775I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CACCCACCCCGAAGTGCCAGC	0.647000														27			15		0	0	0.003163	0	0
CRYGC	1420	broad.mit.edu	37	2	208994171	208994171	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:208994171G>A	uc002vco.4	-	1	284	c.246C>T	c.(244-246)atC>atT	p.I82I	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	82	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCACTTGGGGGATGAGACAAC	0.517000														41			22		0	0	0.002299	0	0
MLL2	8085	broad.mit.edu	37	19	36227621	36227621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36227621C>T	uc021usv.1	+	30	7190	c.7190C>T	c.(7189-7191)cCa>cTa	p.P2397L	MLL2_uc021usu.1_Missense_Mutation_p.P1211L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	725	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAAGAGCCTCCATCCCCAGAT	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			13		0	0	0.001855	0	0
MCM9	254394	broad.mit.edu	37	6	119245183	119245183	+	Silent	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:119245183A>C	uc021zeh.1	-	1	429	c.414T>G	c.(412-414)gtT>gtG	p.V138V	MCM9_uc003pyh.3_Silent_p.V138V	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	138					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CAAACTCCAGAACCTTCACCA	0.463000														128			85		0	0	0.003610	0	0
OR52J3	119679	broad.mit.edu	37	11	5067961	5067961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5067961C>T	uc010qyv.2	+	0	206	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATTCTTTCCACTATTGAT	0.498000														27			15		0	0	0.004007	0	0
ZNF556	80032	broad.mit.edu	37	19	2877898	2877898	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:2877898C>T	uc002lwp.1	+	3	1029	c.942C>T	c.(940-942)ccC>ccT	p.P314P	ZNF556_uc002lwq.3_Silent_p.P313P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGAAACCCTATAAGTGTG	0.527000														13			20		0	0	0.001882	0	0
CSN1S1	1446	broad.mit.edu	37	4	70804900	70804900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70804900G>A	uc003hep.1	+	9	299	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	CSN1S1_uc003heq.1_Missense_Mutation_p.E83K|CSN1S1_uc003her.1_Missense_Mutation_p.E84K	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	84						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TTAGAAGATGGAATCCAGCAT	0.328000														62			35		0	0	0.002222	0	0
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34330140G>A	uc021oky.1	+	0	348	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.P116P|HMGB4_uc001bxq.3_Silent_p.P42P	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	116						nucleus	DNA binding	p.P116P(2)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567000														49			56		0	0	0.003610	0	0
C2orf55	343990	broad.mit.edu	37	2	99438729	99438729	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99438729G>A	uc002szf.1	-	6	2301	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	669										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCCTGGGCGGCTGGGCAGG	0.736000														8			4		0	0	0.000602	0	0
NEU4	129807	broad.mit.edu	37	2	242752549	242752549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242752549G>A	uc002wcp.2	+	0	520	c.26G>A	c.(25-27)aGg>aAg	p.R9K	PABL_uc002wck.1_5'Flank|NEU4_uc010fzr.3_Intron|NEU4_uc002wcm.3_Intron|NEU4_uc002wco.2_5'UTR|NEU4_uc002wcn.2_Missense_Mutation_p.R9K	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	0						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCTTCCCAAGGTGGCTGGTG	0.687000														11			11		0	0	0.001368	0	0
HLCS	3141	broad.mit.edu	37	21	38302591	38302591	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:38302591A>G	uc010gnb.3	-	5	2553	c.1139T>C	c.(1138-1140)gTt>gCt	p.V380A	HLCS_uc021wjb.1_Missense_Mutation_p.V380A|HLCS_uc002yvs.3_Missense_Mutation_p.V380A|HLCS_uc010gnc.2_Missense_Mutation_p.V527A	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	380					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TAAGGCAGGAACTTGTTTCAT	0.502000														30			15		0	0	0.002450	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409688	22409688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22409688G>A	uc021rpl.1	+	1	221	c.178G>A	c.(178-180)Gga>Aga	p.G60R	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Missense_Mutation_p.G60R					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		CCAATATCCTGGAGAAGGTCT	0.488000														37			28		0	0	0.002096	0	0
XIRP2	129446	broad.mit.edu	37	2	168102898	168102898	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168102898C>T	uc002udx.3	+	8	5085	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.L1491L|XIRP2_uc010fpq.3_Silent_p.L1444L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1491					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATAAAAAACCTGTTCTCTGA	0.303000														40			20		0	0	0.001523	0	0
ZG16B	124220	broad.mit.edu	37	16	2882090	2882090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2882090C>T	uc002cru.3	+	3	633	c.557C>T	c.(556-558)cCa>cTa	p.P186L		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	186						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGAATTATCCACTAGAGGAG	0.562000														39			22		0	0	0.002299	0	0
XKR4	114786	broad.mit.edu	37	8	56270281	56270281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:56270281G>A	uc003xsf.3	+	1	882	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	284						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCGACAGAGTGGGGAGAATGA	0.388000														52			35		0	0	0.003214	0	0
C1orf198	84886	broad.mit.edu	37	1	230979283	230979283	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:230979283G>A	uc001hub.3	-	2	788	c.744C>T	c.(742-744)ctC>ctT	p.L248L	C1orf198_uc009xfh.2_Silent_p.L118L|C1orf198_uc001huc.2_Silent_p.L31L|C1orf198_uc001hud.2_Silent_p.L210L	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	248										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTCCTGACGGAGGGTGCTGG	0.642000														15			22		0	0	0.003330	0	0
EIF4G2	1982	broad.mit.edu	37	11	10824772	10824772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10824772G>A	uc001mjb.3	-	9	1417	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	EIF4G2_uc009ygf.3_Missense_Mutation_p.R295C|EIF4G2_uc001mjc.3_Missense_Mutation_p.R89C|EIF4G2_uc001mjd.3_Missense_Mutation_p.R295C|EIF4G2_uc001mjf.1_Missense_Mutation_p.R89C|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	295	MIF4G.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCAGGAAACGAATCCTTGCT	0.333000														19			21		0	0	0.003954	0	0
OR51A7	119687	broad.mit.edu	37	11	4928611	4928611	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4928611C>T	uc010qyq.2	+	0	12	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTGTTCTCAATAACTCCG	0.438000														14			19		0	0	0.001216	0	0
ADH1C	126	broad.mit.edu	37	4	100260777	100260777	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100260777C>T	uc021xqi.1	-	7		c.1145G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTATTTTTTCAAAAGGTAAA	0.368000														30			32		0	0	0.001512	0	0
HTR3D	200909	broad.mit.edu	37	3	183754282	183754282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:183754282C>T	uc011bqv.2	+	3	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F	HTR3D_uc003fmj.3_Missense_Mutation_p.S32F|HTR3D_uc011bqu.2_Missense_Mutation_p.S106F|HTR3D_uc010hxp.3_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	167						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	p.S167F(1)|p.S32F(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTTCCCCTTCCATGGACAGA	0.488000														36			19		0	0	0.001523	0	0
SCAMP2	10066	broad.mit.edu	37	15	75143738	75143738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75143738G>A	uc002azb.1	-	4	502	c.428C>T	c.(427-429)gCc>gTc	p.A143V	SCAMP2_uc002aza.1_5'UTR	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	143					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CTGGTAGTCGGCAGGGATCTC	0.552000														48			24		0	0	0.004656	0	0
PSG8	440533	broad.mit.edu	37	19	43269714	43269714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43269714G>A	uc002ouo.2	-	0	118	c.20C>T	c.(19-21)cCt>cTt	p.P7L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.P7L|PSG8_uc010ein.3_Missense_Mutation_p.P7L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	7						extracellular region		p.A6V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTGCAGGGAGGGGCTGAGAG	0.597000														53			41		0	0	0.003610	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262575	144262575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:144262575G>A	uc003qjv.3	-	2	2644	c.1378C>T	c.(1378-1380)Cat>Tat	p.H460Y	PLAGL1_uc003qjx.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qjy.3_Missense_Mutation_p.H460Y|PLAGL1_uc010khl.3_Missense_Mutation_p.H460Y|PLAGL1_uc010khm.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qjz.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qka.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkb.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qkc.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkd.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qke.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkf.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkg.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qkh.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qki.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qkj.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkk.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qkl.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qkm.3_Missense_Mutation_p.H460Y|PLAGL1_uc010khn.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkn.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qko.3_Missense_Mutation_p.H460Y|PLAGL1_uc003qkp.3_Missense_Mutation_p.H408Y|PLAGL1_uc003qjw.3_Missense_Mutation_p.H408Y|PLAGL1_uc021zgj.1_Missense_Mutation_p.H408Y	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	460					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CTGAATGCATGATGGAAATGA	0.443000														175			120		0	0	0.003610	0	0
COL4A3	1285	broad.mit.edu	37	2	228148571	228148571	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228148571G>A	uc002vom.2	+	33	2908	c.2746_splice	c.e33+1	p.G916_splice	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	916	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGGCAGAGGGGTAAGTGAT	0.453000														51			26		0	0	0.003954	0	0
LRRC55	219527	broad.mit.edu	37	11	56949644	56949644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56949644G>A	uc001njl.2	+	0	424	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	63						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCAGGTGGTGGATTGTAGCAG	0.627000														13			14		0	0	0.003163	0	0
FAM83F	113828	broad.mit.edu	37	22	40417334	40417334	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40417334C>T	uc003ayk.1	+	3	914	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	274										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AAACCTCCTCCTGCTCCTGAC	0.597000														70			41		0	0	0.002522	0	0
CCDC108	255101	broad.mit.edu	37	2	219903722	219903722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219903722C>T	uc002vjl.1	-	2	133	c.49G>A	c.(49-51)Gag>Aag	p.E17K	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.3_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	17						integral to membrane	structural molecule activity	p.V16V(1)|p.E17D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGATTCTCCACCTTCTGG	0.433000														17			20		0	0	0.001523	0	0
HFE2	148738	broad.mit.edu	37	1	145416931	145416931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145416931C>T	uc001eni.2	+	3	1601	c.1276C>T	c.(1276-1278)Cag>Tag	p.Q426*	HFE2_uc001enk.2_Nonsense_Mutation_p.Q313*|HFE2_uc001enj.2_Nonsense_Mutation_p.Q200*|HFE2_uc001enl.2_Nonsense_Mutation_p.Q200*|HFE2_uc021oux.1_Nonsense_Mutation_p.Q200*	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	426					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)					GCTTTGCATTCAGTAAGGGGA	0.463000														67			44		0	0	0.003610	0	0
DUSP8	1850	broad.mit.edu	37	11	1586989	1586989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1586989C>T	uc001lts.2	-	1	196	c.68G>A	c.(67-69)gGg>gAg	p.G23E	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	23	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCCCCCAGGCCCGCCCCGCAG	0.662000														47			21		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179449576	179449576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179449576C>T	uc021vsy.1	-	258	57313	c.57088G>A	c.(57088-57090)Gag>Aag	p.E19030K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12725K|TTN_uc021vta.1_Missense_Mutation_p.E12658K|TTN_uc021vtb.1_Missense_Mutation_p.E12533K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19957	Fibronectin type-III 38.						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)			TCACACTTCTCCACTATATAA	0.502000														77			39		0	0	0.001951	0	0
LMO3	55885	broad.mit.edu	37	12	16704197	16704197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:16704197C>T	uc010shz.2	-	5	688	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	LMO3_uc001rdj.2_Missense_Mutation_p.E144K|LMO3_uc010shy.2_Missense_Mutation_p.E151K|LMO3_uc001rdk.2_Missense_Mutation_p.E133K|LMO3_uc001rdl.2_Missense_Mutation_p.E133K|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Missense_Mutation_p.E133K|LMO3_uc001rdm.2_Missense_Mutation_p.E133K|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATTAAACCTTCCTCGTAGTCC	0.348000														57			22		0	0	0.005443	0	0
NEB	4703	broad.mit.edu	37	2	152352869	152352869	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152352869T>A	uc021vrb.1	-	138	18868	c.18839A>T	c.(18838-18840)gAa>gTa	p.E6280V	NEB_uc002txr.3_Missense_Mutation_p.E2715V|NEB_uc002txu.3_Missense_Mutation_p.E8136V|NEB_uc021vrc.1_Missense_Mutation_p.E8136V|NEB_uc010fnx.3_Missense_Mutation_p.E6268V|NEB_uc021vrd.1_Missense_Mutation_p.E6280V|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Missense_Mutation_p.E80V|NEB_uc002txq.3_Missense_Mutation_p.E159V|NEB_uc010zca.2_Missense_Mutation_p.E111V|NEB_uc010zcb.2_Missense_Mutation_p.E80V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6280					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCCATGTTTTCTTTGTATAA	0.408000														12			9		0	0	0.001368	0	0
OTOP2	92736	broad.mit.edu	37	17	72927037	72927037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72927037G>A	uc010wrp.2	+	5	1399	c.1307G>A	c.(1306-1308)aGt>aAt	p.S436N		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	436						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GAGCCTCACAGTACCCACCCC	0.622000														11			27		0	0	0.003954	0	0
SNRPN	6638	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25442574G>A	uc001yzf.1	+	5		c.569G>A			SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGGCCCCGGGAAAATGTCCC	0.602000									Prader-Willi syndrome					5			4		0	0	0.000248	0	0
PDZRN4	29951	broad.mit.edu	37	12	41957445	41957445	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41957445G>A	uc010skn.2	+	7	1469	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	PDZRN4_uc001rmq.4_Silent_p.E229E|PDZRN4_uc009zjz.3_Silent_p.E227E|PDZRN4_uc001rmr.3_Silent_p.E114E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	487							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAAGGCCAGAGATTCAGGTCA	0.393000														30			26		0	0	0.001786	0	0
CHD5	26038	broad.mit.edu	37	1	6184111	6184111	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:6184111C>T	uc001amb.2	-	30	4707	c.4596G>A	c.(4594-4596)gaG>gaA	p.E1532E	CHD5_uc001alz.2_Silent_p.E389E|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1532					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTCGGGCCCCTCAGGGATCA	0.657000														13			17		0	0	0.000743	0	0
GABRB3	2562	broad.mit.edu	37	15	26793000	26793000	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:26793000G>A	uc001zbb.3	-	9	1633	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GABRB3_uc021sgg.1_Silent_p.I383I|GABRB3_uc021sgh.1_Silent_p.I369I|GABRB3_uc001zaz.3_Silent_p.I454I|GABRB3_uc001zba.3_Silent_p.I454I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGAAACACGATCCTGGACC	0.398000														35			23		0	0	0.005443	0	0
RGPD3	653489	broad.mit.edu	37	2	107041256	107041256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107041256C>T	uc010ywi.1	-	19	3224	c.3167G>A	c.(3166-3168)gGt>gAt	p.G1056D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1056	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AACTTTTTCACCTTCTTCTCC	0.383000														203			72		0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79034797	79034797	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79034797C>T	uc003kgc.3	+	1	10281	c.10209C>T	c.(10207-10209)gtC>gtT	p.V3403V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3403						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)		AAATCCTGGTCCCACCTGAGC	0.443000														8			37		0	0	0.001706	0	0
GPR32	2854	broad.mit.edu	37	19	51274295	51274295	+	Silent	SNP	C	T	T	rs143841096		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51274295C>T	uc010ycf.2	+	0	438	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	146						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCCTCTACCCCGTCTGGGCCC	0.592000														41			52		0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21390430	21390430	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:21390430G>A	uc002kuq.3	+	12	1790	c.1704G>A	c.(1702-1704)agG>agA	p.R568R	LAMA3_uc002kur.3_Silent_p.R568R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	568	Domain V.|Laminin EGF-like 5.				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)	GGTGTGACAGGTGTCTCTCAG	0.562000														31			19		0	0	0.002299	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137831	40137831	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:40137831C>T	uc021qgf.1	-	0	12	c.12G>A	c.(10-12)aaG>aaA	p.K4K	LRRC4C_uc001mxc.1_5'UTR|LRRC4C_uc001mxd.1_5'UTR|LRRC4C_uc001mxa.1_Silent_p.K4K|LRRC4C_uc001mxb.1_5'UTR	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	4					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTAAGGTCATCTTGTTCAACA	0.393000														26			21		0	0	0.002299	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676244	25676244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:25676244C>T	uc003grr.3	+	11	1532	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	SLC34A2_uc003grs.3_Missense_Mutation_p.S483L|SLC34A2_uc010iev.3_Missense_Mutation_p.S483L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	484					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTGAGGAGTTCACTCCAGGTC	0.602000			T	ROS1	NSCLC									54			31		0	0	0.001786	0	0
DTX3L	151636	broad.mit.edu	37	3	122283299	122283300	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122283299_122283300CC>TT	uc003efk.3	+	0	115_116	c.26_27CC>TT	c.(25-27)tcc>tTT	p.S9F	DTX3L_uc010hrj.3_Missense_Mutation_p.S9F|PARP9_uc003eff.4_5'Flank|PARP9_uc010hri.3_5'Flank|PARP9_uc011bjs.2_5'Flank|PARP9_uc003efg.3_5'Flank|PARP9_uc003efi.3_5'UTR|PARP9_uc003efh.3_5'UTR|PARP9_uc003efj.2_5'Flank	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	9					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.P8S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CGCCCGCCGTCCCCGCTCCTCG	0.728000														12			9		0	0	0.004672	0	0
BSN	8927	broad.mit.edu	37	3	49690463	49690463	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49690463C>T	uc003cxe.4	+	4	3588	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1158					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCCCACCTTCATGTCCCTCT	0.597000														16			14		0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71825770	71825770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71825770G>A	uc010fen.3	+	32	3792	c.3651G>A	c.(3649-3651)tgG>tgA	p.W1217*	DYSF_uc010fei.3_Nonsense_Mutation_p.W1216*|DYSF_uc010feh.3_Nonsense_Mutation_p.W1185*|DYSF_uc002sig.4_Nonsense_Mutation_p.W1185*|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Nonsense_Mutation_p.W1230*|DYSF_uc010fee.3_Nonsense_Mutation_p.W1199*|DYSF_uc010fef.3_Nonsense_Mutation_p.W1216*|DYSF_uc002sie.3_Nonsense_Mutation_p.W1199*|DYSF_uc010feo.3_Nonsense_Mutation_p.W1231*|DYSF_uc010fej.3_Nonsense_Mutation_p.W1186*|DYSF_uc010fel.3_Nonsense_Mutation_p.W1186*|DYSF_uc010fem.3_Nonsense_Mutation_p.W1200*|DYSF_uc002sif.3_Nonsense_Mutation_p.W1200*|DYSF_uc010fek.3_Nonsense_Mutation_p.W1217*|DYSF_uc010yqy.2_Nonsense_Mutation_p.W80*	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1199	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.W1199C(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						ACCCCACCTGGGACCAGACGC	0.592000														32			22		0	0	0.002780	0	0
OR1F1	4992	broad.mit.edu	37	16	3254585	3254585	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3254585C>T	uc010uwu.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGACAATTTCCTCCTAGCTG	0.502000														89			45		0	0	0.002522	0	0
FER1L6	654463	broad.mit.edu	37	8	125035699	125035699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:125035699C>T	uc003yqw.3	+	17	2355	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	717						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCACACTATCCCTGACGTTTT	0.527000														70			38		0	0	0.001287	0	0
OR10X1	128367	broad.mit.edu	37	1	158548772	158548772	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158548772C>T	uc010pin.2	-	0	918	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGTCCTTATTCCTCAGGCTGA	0.418000														61			64		0	0	0.003610	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285477	100285477	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100285477G>A	uc003uwg.1	-	2	1204	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	65								p.E64K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCACCGCGGCGAACTCCTTGT	0.677000														38			22		0	0	0.002299	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465622	24465622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:24465622C>T	uc010tcw.2	-	2	828	c.808G>A	c.(808-810)Gga>Aga	p.G270R	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_5'UTR|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Missense_Mutation_p.R106Q|C1QTNF9B_uc001uoz.1_Silent_p.T98T|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.G270R	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	270	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ATTTTTACTCCGTTTTTGACC	0.502000														16			23		0	0	0.003330	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351534	36351534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36351534G>A	uc002ocb.4	+	6	1105	c.893G>A	c.(892-894)gGt>gAt	p.G298D	KIRREL2_uc002obz.4_Missense_Mutation_p.G298D|KIRREL2_uc002oca.4_Missense_Mutation_p.G248D|KIRREL2_uc002ocd.4_Missense_Mutation_p.G295D	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	298	Ig-like C2-type 3.				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)			AACGCCGTGGGTAGCGCCAAC	0.672000														54			26		0	0	0.001786	0	0
PTPRB	5787	broad.mit.edu	37	12	70953393	70953393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70953393G>A	uc001swb.4	-	15	3820	c.3790C>T	c.(3790-3792)Ccc>Tcc	p.P1264S	PTPRB_uc010sto.2_Missense_Mutation_p.P1174S|PTPRB_uc010stp.2_Missense_Mutation_p.P1174S|PTPRB_uc001swc.4_Missense_Mutation_p.P1482S|PTPRB_uc001swa.4_Missense_Mutation_p.P1394S|PTPRB_uc001swd.4_Missense_Mutation_p.P1481S|PTPRB_uc009zrr.2_Missense_Mutation_p.P1361S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1264	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATAAGACTGGGAGGACTTGGA	0.443000														20			16		0	0	0.003163	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366631	7366631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7366631G>A	uc002ghc.4	-	3	1920	c.1670C>T	c.(1669-1671)gCc>gTc	p.A557V	ZBTB4_uc002ghd.4_Missense_Mutation_p.A557V	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCGGCCCTTGGCCTCCTCCGT	0.701000														2			7		0	0	0.001984	0	0
OR4S1	256148	broad.mit.edu	37	11	48328686	48328686	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48328686G>A	uc010rhu.2	+	0	912	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K303T(2)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGTCAAGAGGAGCTTAGGGG	0.418000														14			14		0	0	0.001855	0	0
TNR	7143	broad.mit.edu	37	1	175375419	175375419	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175375419C>T	uc001gkp.1	-	0	513	c.432G>A	c.(430-432)ctG>ctA	p.L144L	TNR_uc009wwu.1_Silent_p.L144L|TNR_uc010pmz.1_Silent_p.L144L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	144					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCCCTCTCCAGCATCTCGA	0.597000														32			49		0	0	0.003610	0	0
STL	7955	broad.mit.edu	37	6	125269104	125269104	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:125269104G>A	uc003pzq.3	-	1		c.346C>T								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		AGCAGATCACGACCCCATATG	0.368000			T	ETV6	B-ALL									33			14		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9047769	9047769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9047769C>T	uc002mkp.3	-	4	34066	c.33862G>A	c.(33862-33864)Gaa>Aaa	p.E11288K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11290	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						GTGTCTAATTCACTGTGGGAA	0.478000														26			21		0	0	0.001523	0	0
LTBP3	4054	broad.mit.edu	37	11	65321212	65321212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:65321212G>A	uc001oej.3	-	2	1093	c.824C>T	c.(823-825)cCc>cTc	p.P275L	LTBP3_uc010roi.2_Missense_Mutation_p.P158L|LTBP3_uc001oei.3_Missense_Mutation_p.P275L|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.P186L|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	275						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCGGCCCAGGGGCTTCTGGGT	0.667000														3			4		0	0	0.000602	0	0
UNC93A	54346	broad.mit.edu	37	6	167705012	167705012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:167705012C>T	uc003qvq.3	+	0	210	c.35C>T	c.(34-36)tCc>tTc	p.S12F	UNC93A_uc003qvr.3_Missense_Mutation_p.S12F	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	12						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTGTGGTTTCCTTTGGGTTC	0.453000														46			31		0	0	0.003271	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743086	13743086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:13743086G>A	uc009voa.1	+	1	374	c.275G>A	c.(274-276)aGg>aAg	p.R92K		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	92										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTACCCACAGGGTTCGTCTC	0.597000														12			12		0	0	0.001523	0	0
CLCA1	1179	broad.mit.edu	37	1	86959980	86959980	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86959980G>A	uc001dlt.3	+	10	2051	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_uc001dls.1_Silent_p.T536T	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	597					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517000														14			9		0	0	0.000978	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:153963239C>A	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														38			17		2.94398e-08	6.164e-08	0.000958	1	0
PLXNA4	91584	broad.mit.edu	37	7	131853305	131853305	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:131853305C>T	uc003vra.4	-	21	4273	c.4044G>A	c.(4042-4044)gtG>gtA	p.V1348V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1348						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCTTTCTCCACACGCTCCT	0.607000														11			21		0	0	0.002299	0	0
STAG1	10274	broad.mit.edu	37	3	136141862	136141862	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:136141862T>C	uc003era.1	-	16	1967	c.1675A>G	c.(1675-1677)Act>Gct	p.T559A	STAG1_uc003erb.1_Missense_Mutation_p.T559A|STAG1_uc003erc.1_Missense_Mutation_p.T333A|STAG1_uc010hua.1_Missense_Mutation_p.T422A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	559					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCAATTTGAGTTTTCCTTTCT	0.299000														12			7		0	0	0.004482	0	0
IQCA1	79781	broad.mit.edu	37	2	237405839	237405839	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237405839G>A	uc002vwb.2	-	1	358	c.324C>T	c.(322-324)ttC>ttT	p.F108F	IQCA1_uc002vvz.1_Silent_p.F101F|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.F101F	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	101							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GGATATCATCGAAATAATGGA	0.453000														8			9		0	0	0.000673	0	0
PSKH2	85481	broad.mit.edu	37	8	87060847	87060847	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:87060847C>T	uc011lfy.2	-	2	1002	c.1002G>A	c.(1000-1002)agG>agA	p.R334R		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	334							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGGATATGGCCCTCTGGAGAT	0.537000														60			20		0	0	0.002299	0	0
CCDC88C	440193	broad.mit.edu	37	14	91806251	91806251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91806251C>T	uc010aty.3	-	6	755	c.601G>A	c.(601-603)Gac>Aac	p.D201N	CCDC88C_uc010twk.1_Missense_Mutation_p.D165N	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	201					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCCGCTGGTCGATGAGCCTC	0.667000														2			7		0	0	0.001984	0	0
HK2	3099	broad.mit.edu	37	2	75107649	75107650	+	Missense_Mutation	DNP	CC	TT	TT	rs142174869		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:75107649_75107650CC>TT	uc002snd.3	+	9	3449_3450	c.1523_1524CC>TT	c.(1522-1524)ccc>cTT	p.P508L		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	508	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCCAGTGCCCCCGTCAAGATGC	0.599000														22			13		0	0	0.004672	0	0
CHRND	1144	broad.mit.edu	37	2	233396114	233396114	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:233396114C>G	uc002vsw.3	+	7	877	c.873C>G	c.(871-873)ttC>ttG	p.F291L	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.F276L|CHRND_uc010zmh.2_Missense_Mutation_p.F97L	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	291					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGTCTGTCTTCCTGCTGCTCA	0.612000														30			13		0	0	0.004990	0	0
MECOM	2122	broad.mit.edu	37	3	168812960	168812960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168812960C>T	uc011bpj.1	-	12	3326	c.2923G>A	c.(2923-2925)Gag>Aag	p.E975K	MECOM_uc010hwk.1_Missense_Mutation_p.E801K|MECOM_uc003ffj.3_Missense_Mutation_p.E852K|MECOM_uc003ffi.3_Missense_Mutation_p.E787K|MECOM_uc011bpi.1_Missense_Mutation_p.E779K|MECOM_uc003ffn.3_Missense_Mutation_p.E787K|MECOM_uc003ffk.2_Missense_Mutation_p.E778K|MECOM_uc003ffl.2_Missense_Mutation_p.E938K|MECOM_uc011bpk.1_Missense_Mutation_p.E787K	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			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						AATGGCTTCTCTTTATTGTGG	0.353000														24			31		0	0	0.002445	0	0
LRRC52	440699	broad.mit.edu	37	1	165532784	165532784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165532784G>A	uc001gde.2	+	1	721	c.665G>A	c.(664-666)gGg>gAg	p.G222E	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	222	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAGCTGACAGGGTGGCCCATC	0.547000														31			15		0	0	0.004990	0	0
ZXDC	79364	broad.mit.edu	37	3	126189788	126189788	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:126189788C>A	uc003eiv.3	-	3	1274	c.1220G>T	c.(1219-1221)gGc>gTc	p.G407V	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.G407V	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	407					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TATGCTGTGGCCTTTCAGATG	0.473000														36			14		0.000151284	0.000315858	0.001855	1	0
SLC29A4	222962	broad.mit.edu	37	7	5340250	5340250	+	Silent	SNP	C	T	T	rs141584802		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:5340250C>T	uc003sod.3	+	9	1568	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	SLC29A4_uc003soc.3_Silent_p.I469I|SLC29A4_uc003soe.3_Silent_p.I455I	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	469					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCCCATGATCCTGGCGGCAG	0.701000														35			21		0	0	0.001523	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	T	T	rs75633112		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:119727733C>T	uc002tln.1	+	2	375	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MARCO_uc010yyf.1_Silent_p.F3F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000														37			21		0	0	0.005443	0	0
NRG3	10718	broad.mit.edu	37	10	84711313	84711313	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:84711313C>T	uc021pvc.1	+	4	1170	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	NRG3_uc010qlz.1_Silent_p.F380F|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Silent_p.F381F|NRG3_uc001kcp.2_Silent_p.F160F|NRG3_uc001kcq.2_Silent_p.F31F|NRG3_uc021pvd.1_Silent_p.F160F|NRG3_uc021pve.1_Silent_p.F185F|NRG3_uc021pvf.1_Silent_p.F31F|NRG3_uc021pvg.1_Silent_p.F185F|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Silent_p.F211F|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Silent_p.F31F|NRG3_uc021pvl.1_Silent_p.F31F	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	381					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTGCAGCATTCTACTTCAAAA	0.383000														49			53		0	0	0.003610	0	0
NIPBL	25836	broad.mit.edu	37	5	36984971	36984971	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36984971C>A	uc003jkl.4	+	9	2188	c.1689C>A	c.(1687-1689)tcC>tcA	p.S563S	NIPBL_uc003jkk.4_Silent_p.S563S|NIPBL_uc003jkm.1_Silent_p.S442S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	563					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGACTCCATAAAAAAGC	0.408000														153			17		0.000566183	0.00118043	0.004990	1	0
SNX13	23161	broad.mit.edu	37	7	17908089	17908089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:17908089G>A	uc003stv.3	-	8	991	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	SNX13_uc010kuc.3_Missense_Mutation_p.L57F|SNX13_uc003stw.1_Missense_Mutation_p.L260F|SNX13_uc003stx.1_Missense_Mutation_p.L180F	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	260	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATTAATGGAAGAAGAATTCCT	0.274000														30			22		0	0	0.002780	0	0
KLHL1	57626	broad.mit.edu	37	13	70314627	70314627	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:70314627C>T	uc001vip.3	-	7	2495	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	KLHL1_uc010thm.2_Silent_p.L506L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	567					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L567M(1)		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)		CCACTGTATTCAGATAGCTCC	0.428000														10			20		0	0	0.001523	0	0
CCDC141	285025	broad.mit.edu	37	2	179710452	179710452	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179710452C>T	uc002une.2	-	21	3493	c.3375G>A	c.(3373-3375)aaG>aaA	p.K1125K	CCDC141_uc002unf.1_Silent_p.K604K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	550							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCGGATTCATCTTTAAAACAT	0.373000														15			11		0	0	0.001368	0	0
IBSP	3381	broad.mit.edu	37	4	88727328	88727328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:88727328G>A	uc003hqx.4	+	4	336	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	80	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AGAGGAGGAGGAAGAAGAGGT	0.368000														21			11		0	0	0.001368	0	0
KRT1	3848	broad.mit.edu	37	12	53073659	53073659	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53073659G>A	uc001sau.1	-	0	533	c.474C>T	c.(472-474)aaC>aaT	p.N158N	KRT1_uc001sav.1_Silent_p.N158N	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	158	Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GAAGGCTCTGGTTGATAGTGA	0.512000														44			19		0	0	0.002299	0	0
PSG11	5680	broad.mit.edu	37	19	43523025	43523025	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43523025G>A	uc002ovm.1	-	2	713	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.L80L|PSG11_uc002ovo.1_Silent_p.L80L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	202	Ig-like C2-type 1.				female pregnancy	extracellular region		p.L202L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAAATAGAAAGAGGGTCCTGT	0.507000														160			127		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179595882	179595882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179595882C>T	uc021vsy.1	-	56	14003	c.13778G>A	c.(13777-13779)gGa>gAa	p.G4593E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1254E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5520	Ig-like 26.						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)			GGCTGGGTCTCCTTGGGTGAC	0.448000														97			68		0	0	0.003610	0	0
SCN2A	6326	broad.mit.edu	37	2	166245684	166245684	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166245684C>T	uc002udc.3	+	26	5658	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	SCN2A_uc002udd.3_Silent_p.L1790L|SCN2A_uc002ude.3_Silent_p.L1790L|SCN2A_uc021vry.1_Silent_p.L290L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1790					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCAGAGCCTCTGAGTGAGGA	0.443000														48			34		0	0	0.002852	0	0
CCDC88C	440193	broad.mit.edu	37	14	91774810	91774810	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91774810T>A	uc010aty.3	-	16	3045	c.2891A>T	c.(2890-2892)aAt>aTt	p.N964I		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	964					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCTGATTCATTTCTGCCCTC	0.408000														71			54		0	0	0.003610	0	0
PARP10	84875	broad.mit.edu	37	8	145059154	145059154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145059154G>A	uc003zal.4	-	4	1124	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	PARP10_uc003zak.4_Missense_Mutation_p.P45L|PARP10_uc011lku.2_Missense_Mutation_p.P351L|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.P339L|PARP10_uc010mfn.1_Missense_Mutation_p.P254L|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	339						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGACCCCATGGGACCTGTCCT	0.607000														43			27		0	0	0.001512	0	0
GSN	2934	broad.mit.edu	37	9	124074640	124074640	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:124074640C>T	uc004blf.1	+	4	751	c.690C>T	c.(688-690)tcC>tcT	p.S230S	GSN_uc004bld.1_Silent_p.S179S|GSN_uc010mvr.1_Silent_p.S190S|GSN_uc010mvq.1_Silent_p.S190S|GSN_uc010mvu.1_Silent_p.S179S|GSN_uc010mvt.1_Silent_p.S179S|GSN_uc010mvs.1_Silent_p.S179S|GSN_uc004ble.1_Silent_p.S179S|GSN_uc010mvv.1_Silent_p.S179S|GSN_uc011lyh.1_Silent_p.S196S|GSN_uc011lyi.1_Silent_p.S179S|GSN_uc011lyj.1_Silent_p.S203S|GSN_uc004blg.1_5'UTR	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	230					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTGTGGTTCCAACAGCAATC	0.612000														13			75		0	0	0.003610	0	0
C3orf20	84077	broad.mit.edu	37	3	14731545	14731545	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14731545T>G	uc003byy.3	+	4	1119	c.667T>G	c.(667-669)Tac>Gac	p.Y223D	C3orf20_uc003byz.3_Missense_Mutation_p.Y101D|C3orf20_uc003bza.3_Missense_Mutation_p.Y101D|C3orf20_uc003byx.2_Missense_Mutation_p.Y223D	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	223						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAACTCGCCTTACCAGCTGAT	0.458000														62			26		0	0	0.001271	0	0
ITGA4	3676	broad.mit.edu	37	2	182363378	182363378	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:182363378G>A	uc002unu.3	+	14	2332	c.1569G>A	c.(1567-1569)gtG>gtA	p.V523V	ITGA4_uc010frj.1_Silent_p.V5V	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	523					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTTTGGATGTGAACAGAAAGG	0.333000														41			16		0	0	0.000743	0	0
TMC5	79838	broad.mit.edu	37	16	19451968	19451968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:19451968G>A	uc002dgc.4	+	2	1357	c.608G>A	c.(607-609)gGa>gAa	p.G203E	TMC5_uc010vaq.2_Missense_Mutation_p.G203E|TMC5_uc002dgb.4_Missense_Mutation_p.G203E|TMC5_uc010var.2_Missense_Mutation_p.G203E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	203						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTCTCTGGGAAAGCCTGAT	0.473000														50			24		0	0	0.003954	0	0
PARN	5073	broad.mit.edu	37	16	14704660	14704660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:14704660G>A	uc010uzd.2	-	6	541	c.395C>T	c.(394-396)cCa>cTa	p.P132L	PARN_uc010uzc.2_Missense_Mutation_p.P71L|PARN_uc010uze.2_Missense_Mutation_p.P86L|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	132					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						ATTTAAATATGGAATTCCTAA	0.348000														55			22		0	0	0.003330	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343242	69343242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69343242C>T	uc003hdz.4	+	7	927	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	288	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGCCCTGTTCCCTACACAAAT	0.408000														127			92		0	0	0.003610	0	0
CLDN19	149461	broad.mit.edu	37	1	43201639	43201639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43201639C>T	uc001cht.1	-	3	727	c.536G>A	c.(535-537)gGc>gAc	p.G179D	CLDN19_uc001chu.2_Missense_Mutation_p.G179D|CLDN19_uc010ojv.1_Missense_Mutation_p.A151T	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	179					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGAAGGAGCCGCCCAGCAC	0.652000														1			7		0	0	0.003080	0	0
MTUS1	57509	broad.mit.edu	37	8	17503462	17503462	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:17503462G>A	uc003wxv.3	-	14	4260	c.3786C>T	c.(3784-3786)ttC>ttT	p.F1262F	MTUS1_uc003wxt.3_Silent_p.F509F|MTUS1_uc011kyg.2_Silent_p.F407F|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.F1208F|MTUS1_uc003wxs.3_Silent_p.F428F	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1262						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGGGGCTAGGGAAGGAGCCCG	0.552000														3			24		0	0	0.001061	0	0
TRPC4	7223	broad.mit.edu	37	13	38357147	38357147	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38357147G>A	uc010abx.3	-	1	559	c.324C>T	c.(322-324)gtC>gtT	p.V108V	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.V108V|TRPC4_uc001uws.3_Silent_p.V108V|TRPC4_uc010tey.2_Silent_p.V108V|TRPC4_uc010abw.3_Silent_p.V108V|TRPC4_uc010aby.3_Silent_p.V108V	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	108	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGCTCCGACGACTTCTTTTC	0.363000														41			74		0	0	0.003610	0	0
SIDT1	54847	broad.mit.edu	37	3	113285303	113285303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:113285303G>A	uc021xcn.1	+	1	910	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.E87K|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	87						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAGTTCCTCTGAGAATCTCAA	0.512000														67			36		0	0	0.005524	0	0
KRT75	9119	broad.mit.edu	37	12	52825840	52825840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52825840C>T	uc001saj.2	-	2	746	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	242	Coil 1B.|Rod.		E -> G (in dbSNP:rs2232393).			keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGTTAATTTCATCTTCGTAC	0.453000														22			10		0	0	0.000978	0	0
ADAM29	11086	broad.mit.edu	37	4	175898030	175898030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:175898030G>A	uc003iuc.3	+	4	2024	c.1354G>A	c.(1354-1356)Ggg>Agg	p.G452R	ADAM29_uc003iud.3_Missense_Mutation_p.G452R|ADAM29_uc010irr.3_Missense_Mutation_p.G452R|ADAM29_uc011cki.2_Missense_Mutation_p.G452R|ADAM29_uc021xuo.1_Missense_Mutation_p.G452R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	452	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACCATCAGGGAAAGTGTG	0.438000														32			22		0	0	0.001523	0	0
OR4M2	390538	broad.mit.edu	37	15	22368673	22368673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:22368673C>T	uc010tzu.2	+	0	196	c.98C>T	c.(97-99)tCc>tTc	p.S33F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(2)|p.L32I(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATATTTCTATCCTTCTATTTG	0.408000														273			67		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106471664	106471664	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106471664C>T	uc021ser.1	-	2491		c.43411G>A								Parts of antibodies, mostly variable regions.																		AAAAGAGGATCCTCCAGGTCC	0.557000														3			8		0	0	0.000978	0	0
PZP	5858	broad.mit.edu	37	12	9316298	9316298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:9316298C>T	uc001qvl.3	-	20	2731	c.2702G>A	c.(2701-2703)aGa>aAa	p.R901K	PZP_uc009zgl.3_Intron|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGTGTCTTTTCTTTTAATCTC	0.443000														41			22		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9060853	9060853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9060853G>A	uc002mkp.3	-	2	26797	c.26593C>T	c.(26593-26595)Cct>Tct	p.P8865S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8867	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8865T(3)|p.P4498T(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						AGTGGCGAAGGTGAGGTTACT	0.502000														57			37		0	0	0.004289	0	0
DNAH7	56171	broad.mit.edu	37	2	196673584	196673584	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196673584C>T	uc002utj.4	-	52	10006	c.9905G>A	c.(9904-9906)tGg>tAg	p.W3302*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3302					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						CAGAAATCTCCACTCAGCTTT	0.388000														22			14		0	0	0.002450	0	0
KIAA0226	9711	broad.mit.edu	37	3	197432026	197432026	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:197432026A>G	uc003fyc.2	-	2	423	c.240T>C	c.(238-240)gaT>gaC	p.D80D	KIAA0226_uc003fyd.3_Silent_p.D20D|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Silent_p.D73D	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	80	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACTGCCAGTAATCCGTCTGGC	0.542000														12			12		0	0	0.003163	0	0
CLIC6	54102	broad.mit.edu	37	21	36081767	36081767	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:36081767G>A	uc010gmt.1	+	5	1884	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	CLIC6_uc002yuf.1_Silent_p.R610R	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	628	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.P627P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTTCTGGAAGGAAGTTTCTGG	0.507000														20			24		0	0	0.002299	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196562	133196562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133196562G>A	uc003ytj.3	-	2	755	c.530C>T	c.(529-531)gCt>gTt	p.A177V	KCNQ3_uc003yti.3_Missense_Mutation_p.A57V|KCNQ3_uc010mdt.3_Missense_Mutation_p.A177V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	177					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACATCCAGCAGCCCAGATCCT	0.532000														87			20		0	0	0.002299	0	0
DUSP27	92235	broad.mit.edu	37	1	167097262	167097262	+	Missense_Mutation	SNP	C	T	T	rs147653213		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:167097262C>T	uc001geb.1	+	4	2910	c.2894C>T	c.(2893-2895)tCg>tTg	p.S965L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	965	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R964K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACACCAGATCGTCCCTGCTC	0.502000														38			22		0	0	0.001882	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044176	75044176	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75044176G>A	uc002ayr.1	+	3	1087	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	341					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGATACAGAGGAAGATCCAGA	0.512000														32			20		0	0	0.001216	0	0
IFNW1	3467	broad.mit.edu	37	9	21141124	21141124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21141124C>T	uc003zol.1	-	0	1021	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	149					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACACGGATTCCCTGGAAGTA	0.488000														10			14		0	0	0.001855	0	0
KIF1B	23095	broad.mit.edu	37	1	10383993	10383993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10383993C>T	uc001aqx.4	+	24	2612	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	KIF1B_uc001aqw.4_Missense_Mutation_p.P758S|KIF1B_uc001aqy.3_Missense_Mutation_p.P778S|KIF1B_uc001aqz.3_Missense_Mutation_p.P804S|KIF1B_uc001ara.3_Missense_Mutation_p.P764S|KIF1B_uc001arb.3_Missense_Mutation_p.P790S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	804					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTTTGCCTCCTGAATTACT	0.448000														53			56		0	0	0.003610	0	0
SPAG16	79582	broad.mit.edu	37	2	214354721	214354721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:214354721C>T	uc002veq.3	+	9	1069	c.977C>T	c.(976-978)cCa>cTa	p.P326L	SPAG16_uc010fuz.2_Missense_Mutation_p.P177L|SPAG16_uc002ver.3_Missense_Mutation_p.P272L|SPAG16_uc010zjk.2_Missense_Mutation_p.P232L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAACCAAATCCAAACCTGAAT	0.348000														67			28		0	0	0.002445	0	0
RASSF6	166824	broad.mit.edu	37	4	74477518	74477518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74477518C>T	uc003hhd.1	-	1	214	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	31					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCTTTTCCTCCTTTTTG	0.333000														63			29		0	0	0.002836	0	0
LDLR	3949	broad.mit.edu	37	19	11216042	11216042	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11216042C>A	uc002mqk.4	+	3	647	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	LDLR_uc010xlk.2_Missense_Mutation_p.Q154K|LDLR_uc010xll.2_Missense_Mutation_p.Q113K|LDLR_uc021upc.1_Missense_Mutation_p.Q33K|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Intron|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	154	LDL-receptor class A 4.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGCCAGCTTCCAGTGCAACAG	0.652000														167			7		0.00448238	0.00930402	0.004482	1	0
PRB2	653247	broad.mit.edu	37	12	11546143	11546144	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546143_11546144CC>TT	uc010shk.1	-	2	903_904	c.868_869GG>AA	c.(868-870)gga>AAa	p.G290K		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGCTGCCTCCTTGTGGGGGT	0.614000														101			88		0	0	0.004672	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256710	32256710	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32256710G>A	uc001bts.1	-	15	3203	c.3145C>T	c.(3145-3147)Cag>Tag	p.Q1049*	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Nonsense_Mutation_p.Q1036*|SPOCD1_uc001btv.3_Nonsense_Mutation_p.Q529*	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1049					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCATCTGGCTGATAGTATCTC	0.602000														13			7		0	0	0.003080	0	0
MUC4	4585	broad.mit.edu	37	3	195516563	195516563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:195516563C>T	uc021xjp.1	-	1	2044	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E512K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	635					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGATTCCTGAGGAGAG	0.488000														87			69		0	0	0.003610	0	0
XIRP1	165904	broad.mit.edu	37	3	39230046	39230046	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:39230046C>T	uc003cjk.2	-	1	1120	c.891G>A	c.(889-891)gaG>gaA	p.E297E	XIRP1_uc003cji.3_Silent_p.E297E|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.E297E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	297							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCCCCCTCCTCCAGGGAAA	0.642000														16			13		0	0	0.001855	0	0
DSP	1832	broad.mit.edu	37	6	7578768	7578768	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:7578768G>T	uc003mxp.1	+	21	3336	c.3057G>T	c.(3055-3057)gaG>gaT	p.E1019D	DSP_uc003mxq.1_Missense_Mutation_p.E1019D|DSP_uc021yle.1_Missense_Mutation_p.E1019D	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1019	Globular 1.				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)		TCTTAAGTGAGATGCTGAAGA	0.348000														83			30		7.63505e-26	1.61067e-25	0.002445	1	0
TCRAVN1	0	broad.mit.edu	37	14	22580838	22580838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22580838C>T	uc010ajh.1	+	1	257	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	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					Homo sapiens mRNA for T cell receptor alpha variable 25, partial cds, clone: SEB 340.																		TGGTGGACATCCCGTTTTTTT	0.423000														25			21		0	0	0.002299	0	0
ITGAD	3681	broad.mit.edu	37	16	31427896	31427896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:31427896G>A	uc010cap.1	+	19	2480	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	ITGAD_uc002ebv.1_Missense_Mutation_p.D810N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	810					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGCAGGTGAGGATTCCTACGG	0.612000														50			39		0	0	0.001706	0	0
FAT3	120114	broad.mit.edu	37	11	92085336	92085336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92085336C>T	uc001pdj.4	+	0	75	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	20					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)				TTGCCTCATCCTCCTGCTTTT	0.507000										TCGA Ovarian(4;0.039)				286			190		0	0	0.003610	0	0
KCNK10	54207	broad.mit.edu	37	14	88652128	88652128	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:88652128C>T	uc001xwm.3	-	6	1505	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	KCNK10_uc001xwn.3_Silent_p.R461R|KCNK10_uc001xwo.3_Silent_p.R456R	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	456					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTGTTTTTCCTCTTGGTGA	0.537000														14			78		0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215809828	215809828	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215809828C>T	uc002vew.3	-	49	7460	c.7240_splice	c.e49-1	p.D2414_splice	ABCA12_uc002vev.3_Splice_Site_p.D2096_splice|ABCA12_uc010zjn.2_Splice_Site_p.D1341_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2414	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCGGCTCATCCTTAATAGAA	0.363000														20			9		0	0	0.004482	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66522027	66522027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:66522027C>T	uc002jhg.3	+	6	862	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PRKAR1A_uc002jhh.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhi.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhj.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhk.3_Nonsense_Mutation_p.R104*|PRKAR1A_uc002jhl.3_Nonsense_Mutation_p.R228*	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	228					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GGGCATCGACCGAGACAGCTA	0.418000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					6			36		0	0	0.002836	0	0
PMFBP1	83449	broad.mit.edu	37	16	72153731	72153731	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72153731T>A	uc002fcc.4	-	19	3213	c.3041A>T	c.(3040-3042)cAa>cTa	p.Q1014L	PMFBP1_uc002fcd.3_Intron|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Intron	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	1014										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTATTTTTTTGACAAATGGC	0.448000														37			24		0	0	0.003954	0	0
RYR3	6263	broad.mit.edu	37	15	33872249	33872249	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:33872249C>T	uc001zhi.3	+	12	1411	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	RYR3_uc010bar.3_Silent_p.I447I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	447					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)		AGGACTTGATCGCCTACTTCC	0.483000														12			10		0	0	0.000443	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	A	A	rs141225150	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55136058G>A	uc010rif.2	+	0	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000														45			33		0	0	0.002096	0	0
CHRM2	1129	broad.mit.edu	37	7	136700038	136700038	+	Missense_Mutation	SNP	G	A	A	rs142493466		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:136700038G>A	uc003vtf.1	+	3	1049	c.426G>A	c.(424-426)atG>atA	p.M142I	CHRM2_uc003vtg.1_Missense_Mutation_p.M142I|CHRM2_uc003vti.1_Missense_Mutation_p.M142I|CHRM2_uc003vtm.1_Missense_Mutation_p.M142I|CHRM2_uc003vtj.1_Missense_Mutation_p.M142I|CHRM2_uc003vtk.1_Missense_Mutation_p.M142I|CHRM2_uc003vtl.1_Missense_Mutation_p.M142I|CHRM2_uc003vtn.1_Missense_Mutation_p.M142I|CHRM2_uc003vto.1_Missense_Mutation_p.M142I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M142I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	142					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGGCAGGTATGATGATTGCAG	0.502000														35			59		0	0	0.003610	0	0
GJB3	2707	broad.mit.edu	37	1	35250684	35250684	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:35250684G>A	uc001bxz.4	+	0	321	c.321G>A	c.(319-321)caG>caA	p.Q107Q	GJB3_uc001bxx.3_Silent_p.Q107Q|GJB3_uc001bxy.3_Silent_p.Q107Q	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	107					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R106S(1)|p.R106H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCACCGCCAGAAACACGGGG	0.632000														47			27		0	0	0.004656	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973312	73973312	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:73973312C>T	uc003uaq.3	+	20	2667	c.2274C>T	c.(2272-2274)ttC>ttT	p.F758F	GTF2IRD1_uc010lbq.3_Silent_p.F775F|GTF2IRD1_uc003uap.3_Silent_p.F743F|GTF2IRD1_uc003uar.1_Silent_p.F743F	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	758						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						CCTGTACCTTCGGCTCCCAGA	0.587000														30			27		0	0	0.002096	0	0
FAM49A	81553	broad.mit.edu	37	2	16742265	16742265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:16742265C>T	uc010exm.2	-	7	851	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	FAM49A_uc002rck.2_Missense_Mutation_p.E235K	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	235						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TACGGAGTTTCCAGCATGACT	0.403000														42			30		0	0	0.002445	0	0
BSN	8927	broad.mit.edu	37	3	49694020	49694020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49694020G>A	uc003cxe.4	+	4	7145	c.7031G>A	c.(7030-7032)gGt>gAt	p.G2344D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2344					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTCCTGGGGGTGGCAGTGGG	0.652000														12			11		0	0	0.001855	0	0
CRMP1	1400	broad.mit.edu	37	4	5830308	5830308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:5830308C>T	uc003gis.3	-	11	1800	c.1711G>A	c.(1711-1713)Gga>Aga	p.G571R	EVC_uc003gim.1_Non-coding_Transcript|CRMP1_uc003giq.3_Missense_Mutation_p.G457R|CRMP1_uc003gir.3_Missense_Mutation_p.G452R	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	457					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTGATGTTTCCGTCTTCAAAG	0.562000														15			9		0	0	0.000673	0	0
GSTA1	2938	broad.mit.edu	37	6	52664052	52664052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:52664052G>A	uc003paz.3	-	1	126	c.14C>T	c.(13-15)cCc>cTc	p.P5L	GSTA1_uc021zan.1_Missense_Mutation_p.P5L	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	5	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GTGGAGCTTGGGCTTCTCTGC	0.458000														51			29		0	0	0.001271	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746875	90746875	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90746875G>A	uc011lti.2	-	3	1106	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	359																	CTGGGAAAGAGGATTGAAGAT	0.537000														204			8		0	0	0.000958	0	0
CCR1	1230	broad.mit.edu	37	3	46244938	46244938	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46244938G>A	uc003cph.1	-	1	938	c.867C>T	c.(865-867)atC>atT	p.I289I	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.I289I	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCGTGTAGGCGATCACCTCCG	0.522000														13			7		0	0	0.001984	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913467	136913467	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136913467C>T	uc003qhc.3	-	22	3430	c.3069G>A	c.(3067-3069)gaG>gaA	p.E1023E	MAP3K5_uc011edj.2_Silent_p.E270E|MAP3K5_uc011edk.1_Silent_p.E869E	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1023					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)		CTTCAAAATTCTCATCTGGAA	0.428000														78			47		0	0	0.003610	0	0
ULK4	54986	broad.mit.edu	37	3	41841661	41841661	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:41841661T>C	uc003ckv.4	-	19	2174	c.1973A>G	c.(1972-1974)cAc>cGc	p.H658R	ULK4_uc003ckw.2_Missense_Mutation_p.H658R	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	658							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCAGTGGAGTGTCTGAATAG	0.403000														64			34		0	0	0.003755	0	0
CSMD3	114788	broad.mit.edu	37	8	113418864	113418864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113418864C>T	uc003ynu.3	-	34	5857	c.5698G>A	c.(5698-5700)Gtt>Att	p.V1900I	CSMD3_uc003yns.3_Missense_Mutation_p.V1102I|CSMD3_uc003ynt.3_Missense_Mutation_p.V1860I|CSMD3_uc011lhx.2_Missense_Mutation_p.V1796I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1900	Sushi 10.					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						TCAAAAAGAACCGATGAACCG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				72			29		0	0	0.001512	0	0
DNAH10	196385	broad.mit.edu	37	12	124270403	124270403	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124270403G>A	uc001uft.4	+	8	1183	c.1158G>A	c.(1156-1158)agG>agA	p.R386R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	386	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGACGAGAGGATGATTCCGC	0.567000														33			27		0	0	0.001786	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432677	140432677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140432677C>T	uc003lik.1	+	0	1699	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTCCTGTCACTGAGTAGC	0.468000														11			29		0	0	0.002096	0	0
COG7	91949	broad.mit.edu	37	16	23444872	23444872	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23444872A>G	uc002dlo.3	-	5	1001	c.804T>C	c.(802-804)gcT>gcC	p.A268A		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	268					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)		TTACCTGTGTAGCCCACTGGA	0.547000														38			21		0	0	0.003954	0	0
ZNF680	340252	broad.mit.edu	37	7	63982354	63982354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:63982354G>A	uc003tta.2	-	3	951	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTTCAATATGAATTTTCTTA	0.343000														11			14		0	0	0.002450	0	0
GZMH	2999	broad.mit.edu	37	14	25077614	25077614	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:25077614C>G	uc001wpr.1	-	1	105	c.60G>C	c.(58-60)gaG>gaC	p.E20D	GZMH_uc010aly.1_Missense_Mutation_p.E20D|GZMH_uc010alz.1_Missense_Mutation_p.E20D	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	20					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CCCCGATGATCTCCTCTGAAA	0.537000														12			63		0	0	0.003610	0	0
FUT9	10690	broad.mit.edu	37	6	96652059	96652059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:96652059G>A	uc003pop.4	+	2	1369	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	FUT9_uc021zcw.1_Missense_Mutation_p.R343K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	343					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATGTGAAAAGGCATCAAGAA	0.323000														43			36		0	0	0.003271	0	0
PXDNL	137902	broad.mit.edu	37	8	52387679	52387680	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:52387679_52387680CC>TT	uc003xqu.4	-	6	647_648	c.546_547GG>AA	c.(544-549)ctggtt>ctAAtt	p.V183I		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	183	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.T182M(1)|p.E183K(1)		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)				CAGTCACAAACCAGGGCGTTGG	0.480000														13			28		0	0	0.004672	0	0
ZNF536	9745	broad.mit.edu	37	19	31040052	31040052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:31040052G>A	uc002nsu.1	+	3	3664	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K	ZNF536_uc010edd.1_Missense_Mutation_p.E1176K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCCAAGGGGGAGAACAACGA	0.542000														33			32		0	0	0.004878	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226032	23226032	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23226032G>A	uc002dlm.1	+	12	1633	c.1494_splice	c.e12-1	p.K498_splice		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	498					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAATTTTGCAGGACAGACTTG	0.512000														25			21		0	0	0.002780	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580387	96580387	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96580387G>A	uc010qnz.2	+	5	954	c.954G>A	c.(952-954)gaG>gaA	p.E318E	CYP2C19_uc010qny.2_Silent_p.E296E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	318					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.E318A(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGCACCCAGAGGTCACAGGTA	0.453000														59			23		0	0	0.005443	0	0
TGM6	343641	broad.mit.edu	37	20	2384129	2384129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2384129C>T	uc002wfy.1	+	7	1137	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	TGM6_uc010gal.1_Missense_Mutation_p.P359L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	359					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)	GATGCCACCCCCCAGGAGGAG	0.582000														6			19		0	0	0.000958	0	0
UNC79	57578	broad.mit.edu	37	14	94052986	94052986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94052986C>T	uc001ybv.1	+	17	2400	c.2317C>T	c.(2317-2319)Ccg>Tcg	p.P773S	UNC79_uc001ybs.1_Missense_Mutation_p.P773S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	950						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						CCAACAGCTTCCGGTAACATT	0.348000														7			20		0	0	0.002780	0	0
SAGE1	55511	broad.mit.edu	37	X	134988657	134988657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:134988657G>A	uc004ezh.3	+	6	850	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	SAGE1_uc010nry.1_Missense_Mutation_p.R197Q|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	228								p.R228Q(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTTCGACCACGGCGTATTAAT	0.418000														18			43		0	0	0.003610	0	0
AHSG	197	broad.mit.edu	37	3	186336349	186336349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186336349G>A	uc003fqk.4	+	4	679	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	200	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TACCTATGTGGAGTTTACAGT	0.517000														32			13		0	0	0.001855	0	0
FILIP1	27145	broad.mit.edu	37	6	76072564	76072564	+	Missense_Mutation	SNP	C	T	T	rs140731996		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76072564C>T	uc010kbe.3	-	3	885	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	FILIP1_uc003phy.1_Missense_Mutation_p.G116R|FILIP1_uc003phz.3_Missense_Mutation_p.G17R|FILIP1_uc003pia.3_Missense_Mutation_p.G116R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	116										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						TCCGCAGACCCGTAATGAGCC	0.502000														68			28		0	0	0.001271	0	0
NME8	51314	broad.mit.edu	37	7	37924006	37924006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37924006G>A	uc003tfn.3	+	12	1468	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	366	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CAAGGAATATGAAAATGAAGA	0.308000														44			28		0	0	0.001271	0	0
CCDC81	60494	broad.mit.edu	37	11	86123497	86123497	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:86123497C>T	uc001pbx.2	+	10	1715	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	CCDC81_uc001pbw.2_Silent_p.S339S|CCDC81_uc010rtq.2_Silent_p.S212S|CCDC81_uc001pby.2_Silent_p.S164S	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	429										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGGAATATTCCCGGAGTCTCC	0.418000														49			27		0	0	0.001786	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779687	133779687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:133779687C>T	uc004bzz.3	-	6	1395	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	FIBCD1_uc011mcc.2_Missense_Mutation_p.G384S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	384	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AACCTCATGCCGCTGTGCTTC	0.632000														10			50		0	0	0.003610	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820403	35820403	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:35820403C>T	uc010ngt.1	+	1	369	c.90C>T	c.(88-90)gtC>gtT	p.V30V	MAGEB16_uc022bus.1_Silent_p.V30V	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	30										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGCACAGGTCTCCAAGGCTC	0.557000														3			17		0	0	0.004007	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949554	97949554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:97949554C>T	uc003upj.3	-	3	534	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	91	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CGTACATTTTCATCAAGACTC	0.358000														20			30		0	0	0.003271	0	0
RAG1	5896	broad.mit.edu	37	11	36596859	36596859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:36596859G>A	uc021qgb.1	+	0	2005	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.E669K	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	669			E -> G (in OS).		T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCTGACCACGAGACGCTGAC	0.493000									Familial Hemophagocytic Lymphohistiocytosis					14			14		0	0	0.001855	0	0
OR8D4	338662	broad.mit.edu	37	11	123777540	123777540	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123777540C>T	uc010saa.2	+	0	402	c.402C>T	c.(400-402)gtC>gtT	p.V134V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTACAGGGTCATCATGTCCC	0.498000														60			35		0	0	0.003755	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279185	105279185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:105279185G>A	uc010npd.3	-	1	1049	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	SERPINA7_uc004eme.2_Missense_Mutation_p.P272S|SERPINA7_uc010npe.2_Missense_Mutation_p.P272S	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	272					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCTCCTTGGGAAGAACAAAG	0.458000														8			49		0	0	0.003610	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55346533	55346533	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55346533G>A	uc002qhm.1	+	2	81	c.35_splice	c.e2-1	p.G12_splice	KIR3DL2_uc010yfj.2_Splice_Site_p.G5_splice|KIR3DL2_uc010yfk.1_Splice_Site|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Splice_Site_p.G12_splice|KIR3DL2_uc002qhn.1_5'Flank	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	12					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)		TTTCTTTCCAGGGTTCTTCTT	0.537000														8			72		0	0	0.003610	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042954	2042954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2042954C>T	uc002cod.3	+	3	729	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	TCRBV20S1_uc021tak.1_Intron	NM_004209	NP_004200	O43761	SNG3_HUMAN	Homo sapiens synaptogyrin 3 (SYNGR3), mRNA.	191					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGGGGCGAGCCAGGCCTACCC	0.701000														7			4		0	0	0.000248	0	0
ABCA6	23460	broad.mit.edu	37	17	67132256	67132256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67132256G>A	uc002jhw.1	-	3	612	c.437C>T	c.(436-438)cCa>cTa	p.P146L	ABCA6_uc002jhy.3_Missense_Mutation_p.P144L	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	146					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTCCAAAGTGGACTGTTATA	0.323000														4			22		0	0	0.005443	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:55537550C>T	uc003xsd.1	+	3	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	370					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.F369I(1)		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)			GATGAGTTTTCCAGGAAGAAC	0.398000														24			35		0	0	0.002836	0	0
IL7R	3575	broad.mit.edu	37	5	35867441	35867441	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35867441C>T	uc003jjs.3	+	2	344	c.255C>T	c.(253-255)ttC>ttT	p.F85F	IL7R_uc011coo.2_Silent_p.F85F|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	85					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCCTGAATTTCAGGAAACTAC	0.403000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							47			29		0	0	0.002836	0	0
XIST	7503	broad.mit.edu	37	X	73050937	73050937	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73050937C>T	uc004ebm.1	-	3		c.11746G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ACTTTATCTTCCTATCTGGGA	0.443000														6			7		0	0	0.004482	0	0
GGT6	124975	broad.mit.edu	37	17	4461464	4461464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4461464G>A	uc010vsc.2	-	3	1406	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	MYBBP1A_uc002fxz.4_5'Flank|MYBBP1A_uc002fyb.4_5'Flank|GGT6_uc010vsb.2_Missense_Mutation_p.P295L|GGT6_uc002fyd.4_Missense_Mutation_p.P443L|GGT6_uc002fyc.4_Missense_Mutation_p.P411L	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	443					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGCCTGGGTAGGGGGCCTTGC	0.622000														9			25		0	0	0.001512	0	0
WDR90	197335	broad.mit.edu	37	16	711461	711461	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:711461C>T	uc002cii.1	+	29	3687	c.3633C>T	c.(3631-3633)gcC>gcT	p.A1211A	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.A738A|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Silent_p.A385A|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1211										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTGCTGGCCCTGGCCTTCT	0.647000														31			18		0	0	0.001882	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95709754	95709754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:95709754C>T	uc003uoc.4	+	15	2058	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	DYNC1I1_uc003uod.4_Missense_Mutation_p.A577V|DYNC1I1_uc003uob.3_Missense_Mutation_p.A557V|DYNC1I1_uc003uoe.4_Missense_Mutation_p.A574V|DYNC1I1_uc010lfl.3_Missense_Mutation_p.A583V	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	594					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAAGAAGTTGCTGTTGGGGAC	0.498000														110			54		0	0	0.003610	0	0
ERG	2078	broad.mit.edu	37	21	39772548	39772548	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:39772548G>A	uc010gnw.3	-	7	1009	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ERG_uc021wjd.1_Silent_p.F238F|ERG_uc002yxa.3_Silent_p.F231F|ERG_uc011aek.2_Silent_p.F139F|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Intron|ERG_uc011ael.2_Silent_p.F238F|ERG_uc002yxb.3_Intron|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Silent_p.F238F|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	238					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)				AAGTATTTGGGAAAATAAAAG	0.423000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									43			22		0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179444787	179444787	+	Silent	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179444787G>T	uc021vsy.1	-	266	59748	c.59523C>A	c.(59521-59523)tcC>tcA	p.S19841S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S13536S|TTN_uc021vta.1_Silent_p.S13469S|TTN_uc021vtb.1_Silent_p.S13344S|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20768	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTGTTTTGGAGCACTCAG	0.453000														141			7		0.000442599	0.00092296	0.000443	1	0
MAP3K13	9175	broad.mit.edu	37	3	185146818	185146818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:185146818C>T	uc010hyf.3	+	2	740	c.449C>T	c.(448-450)tCc>tTc	p.S150F	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Missense_Mutation_p.S150F|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	150					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGGCATATTCCACTGATTAC	0.443000														16			15		0	0	0.004007	0	0
SCN9A	6335	broad.mit.edu	37	2	167055790	167055790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167055790C>T	uc010fpl.3	-	26	5667	c.5326G>A	c.(5326-5328)Gag>Aag	p.E1776K	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1787						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCAAACTTCTCCCAAACCTCA	0.433000														49			45		0	0	0.003214	0	0
LOC654342	654342	broad.mit.edu	37	2	91843511	91843511	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:91843511G>A	uc002sts.4	-	1		c.59C>T			LOC654342_uc010yub.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC654342), non-coding RNA.																		GGGCTAGCTTGGGGGTCTGGC	0.597000														39			5		0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857805	9857806	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9857805_9857806GG>AT	uc010uym.2	-	13	3905_3906	c.3595_3596CC>AT	c.(3595-3597)ccg>ATg	p.P1199M	GRIN2A_uc002czo.4_Missense_Mutation_p.P1199M|GRIN2A_uc010uyn.2_Missense_Mutation_p.P1042M|GRIN2A_uc002czr.4_Missense_Mutation_p.P1199M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1199					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P1199A(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCACTGTGCGGGGAACCCTTG	0.535000														144			59		0	0	0.004672	0	0
EXPH5	23086	broad.mit.edu	37	11	108384777	108384777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108384777C>T	uc001pkk.3	-	5	1568	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	EXPH5_uc010rvz.2_Missense_Mutation_p.G330E|EXPH5_uc010rvy.2_Missense_Mutation_p.G298E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	486					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAAGAATGTCCTTTCTCTTG	0.423000														45			27		0	0	0.001061	0	0
DMBT1	1755	broad.mit.edu	37	10	124399773	124399773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124399773C>T	uc001lgk.1	+	51	6879	c.6773C>T	c.(6772-6774)tCc>tTc	p.S2258F	DMBT1_uc001lgl.1_Missense_Mutation_p.S2248F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1630F|DMBT1_uc021qaf.1_Missense_Mutation_p.S2258F|DMBT1_uc021qag.1_Missense_Mutation_p.S2248F|DMBT1_uc021qah.1_Missense_Mutation_p.S1630F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2257F|DMBT1_uc010qtx.1_Missense_Mutation_p.S978F|DMBT1_uc009yab.1_Missense_Mutation_p.S961F|DMBT1_uc009yac.1_Missense_Mutation_p.S552F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2258	ZP.				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)				GTGAACATTTCCTTTTATACT	0.463000														79			38		0	0	0.002222	0	0
DCN	1634	broad.mit.edu	37	12	91572327	91572327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91572327C>T	uc001tbt.3	-	1	257	c.3G>A	c.(1-3)atG>atA	p.M1I	DCN_uc001tbo.3_Missense_Mutation_p.M1I|DCN_uc001tbp.3_Missense_Mutation_p.M1I|DCN_uc001tbq.3_Missense_Mutation_p.M1I|DCN_uc001tbr.3_Missense_Mutation_p.M1I|DCN_uc001tbu.3_Missense_Mutation_p.M1I	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	1					organ morphogenesis	extracellular space		p.M1T(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAGTGGCCTTCATGATTTATC	0.413000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			16		0	0	0.003163	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459033	45459033	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:45459033C>T	uc001rol.3	-	0		c.162G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAAAGTCCTTCACCAACTGGA	0.443000														15			6		0	0	0.001168	0	0
GPR19	2842	broad.mit.edu	37	12	12814241	12814241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12814241G>A	uc001rar.3	-	1	1335	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	GPR19_uc001raq.2_Missense_Mutation_p.A381V|GPR19_uc021qvj.1_Missense_Mutation_p.A381V	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	381						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AATAGTTTTGGCCATGGAAGG	0.388000														62			54		0	0	0.003610	0	0
ZNF511	118472	broad.mit.edu	37	10	135165858	135165858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:135165858G>A	uc021qbf.1	+	7	889	c.847G>A	c.(847-849)Gag>Aag	p.E283K	ZNF511_uc001lmp.2_Missense_Mutation_p.E124K|ZNF511_uc001lmr.2_Missense_Mutation_p.E115K|ZNF511_uc001lmq.1_Missense_Mutation_p.E96K	NM_145806	NP_665805	Q8NB15	ZN511_HUMAN	Homo sapiens zinc finger protein 511 (ZNF511), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCAGGGCGAGGAGAGGCCCCG	0.657000														45			17		0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	90072346	90072346	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90072346C>T	uc003kju.3	+	60	12576	c.12480C>T	c.(12478-12480)atC>atT	p.I4160I	GPR98_uc003kjt.3_Silent_p.I1866I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4160					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)		CTAGGCACATCCTCATTGGGG	0.403000														7			20		0	0	0.000958	0	0
NOS1AP	9722	broad.mit.edu	37	1	162335266	162335266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162335266C>T	uc001gbv.2	+	8	1399	c.1012C>T	c.(1012-1014)Ctt>Ttt	p.L338F	NOS1AP_uc001gbw.2_Missense_Mutation_p.L333F|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Missense_Mutation_p.L43F	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	338					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CGTGCATCAGCTTTTGCTGCA	0.597000														57			24		0	0	0.003954	0	0
DPPA5	340168	broad.mit.edu	37	6	74063680	74063680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74063680G>A	uc003pgs.2	-	1	239	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	63	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						GGTGAGGTCTGAAGACTCCAG	0.582000														30			21		0	0	0.003330	0	0
PLCH1	23007	broad.mit.edu	37	3	155271912	155271912	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:155271912G>A	uc021xge.1	-	7	1384	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PLCH1_uc021xgd.1_Silent_p.F369F|PLCH1_uc021xgf.1_Silent_p.F351F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	369	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAACATCTCTGAAGAGAATTT	0.453000														36			24		0	0	0.004656	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101181	119101181	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119101181C>T	uc003ecj.4	+	4	1006	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	158	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATATCGCCTCCTTCAGCAGCA	0.547000														55			34		0	0	0.001951	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960249	33960249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:33960249C>T	uc001bxj.4	+	7	2472	c.2305C>T	c.(2305-2307)Ctt>Ttt	p.L769F	ZSCAN20_uc009vui.3_Missense_Mutation_p.L768F	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	769					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTATAAATGCCTTGAATGTGG	0.428000														66			35		0	0	0.003271	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988470	135988470	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:135988470G>A	uc002tum.3	-	12	1684	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ZRANB3_uc002tuk.3_Nonsense_Mutation_p.R66*|ZRANB3_uc002tul.3_Nonsense_Mutation_p.R523*	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	523						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.V522V(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AAAAATGATCGAATATCATGC	0.353000														34			18		0	0	0.000958	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518311	107518311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:107518311G>A	uc010rvs.2	+	6	942	c.538G>A	c.(538-540)Gga>Aga	p.G180R	ELMOD1_uc001pjm.3_Missense_Mutation_p.G180R|ELMOD1_uc010rvt.2_Missense_Mutation_p.G174R	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	180	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGGACTTCTGGGACTGTACAA	0.413000														17			18		0	0	0.002299	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078160	46078160	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46078160C>G	uc002zft.3	+	0	312	c.264C>G	c.(262-264)atC>atG	p.I88M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	88	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAGACCCATCTCCTGCAGCA	0.612000														23			16		0	0	0.004990	0	0
DES	1674	broad.mit.edu	37	2	220286069	220286069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220286069C>T	uc002vll.3	+	5	1117	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	344	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton	p.S344F(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGAACGATTCCCTGATGAGG	0.582000														28			15		0	0	0.001523	0	0
PLCH1	23007	broad.mit.edu	37	3	155200812	155200812	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:155200812C>T	uc021xge.1	-	22	3304	c.3027G>A	c.(3025-3027)ggG>ggA	p.G1009G	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.G971G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1009					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACTTGCTTTCCCTTTTCTTC	0.393000														74			29		0	0	0.001061	0	0
KCNK10	54207	broad.mit.edu	37	14	88729757	88729757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:88729757G>A	uc001xwm.3	-	1	313	c.191C>T	c.(190-192)tCc>tTc	p.S64F	KCNK10_uc001xwn.3_Missense_Mutation_p.S64F|KCNK10_uc001xwo.3_Missense_Mutation_p.S59F	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	59					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCCCCCTTGGGAGGTGCCTTC	0.617000														14			51		0	0	0.003610	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66311202	66311202	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66311202G>A	uc001oin.1	-	1	729	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	ZDHHC24_uc009yrg.2_Silent_p.L178L	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN	Homo sapiens zinc finger, DHHC-type containing 24 (ZDHHC24), mRNA.	178	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CAGGGAAGCAGGAGGAGGGCA	0.677000											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			4		0	0	0.000602	0	0
AK8	158067	broad.mit.edu	37	9	135601098	135601098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:135601098G>A	uc004cbu.1	-	12	1973	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.P269S	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	473	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTGGGCAGGGGATTAATGATC	0.582000														1			10		0	0	0.001855	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897266	130897266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:130897266G>A	uc001uil.2	-	14	2935	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	907	SH3 2.					cell junction|synapse		p.I906N(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATGTTACAAGGAATAAGGCCA	0.463000														18			28		0	0	0.005443	0	0
CCPG1	9236	broad.mit.edu	37	15	55664175	55664175	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:55664175G>A	uc010bfk.2	-	5	821	c.522C>T	c.(520-522)gcC>gcT	p.A174A	CCPG1_uc002acy.3_Silent_p.A174A|CCPG1_uc002acu.2_Silent_p.A30A|CCPG1_uc002acz.2_Silent_p.A174A|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.A174A|CCPG1_uc002acv.2_Silent_p.A174A	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	174	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GTCGTCTAAAGGCAGGACTGG	0.418000														32			20		0	0	0.001216	0	0
PTK7	5754	broad.mit.edu	37	6	43098000	43098000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43098000C>T	uc011dve.1	+	3	569	c.527C>T	c.(526-528)cCc>cTc	p.P176L	PTK7_uc003oub.1_Missense_Mutation_p.P168L|PTK7_uc003ouc.1_Missense_Mutation_p.P168L|PTK7_uc003oud.1_Missense_Mutation_p.P168L|PTK7_uc003oue.1_Missense_Mutation_p.P168L|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.P168L	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	168	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGGGACCCCCCTTTCTGAT	0.597000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			28		0	0	0.001786	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889905	89889905	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:89889905G>A	uc009wcy.1	+	4		c.646G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		TGGAACAGAAGGAGAGGAGTT	0.473000														270			168		0	0	0.003610	0	0
ZNF527	84503	broad.mit.edu	37	19	37879669	37879669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:37879669C>T	uc010efk.1	+	4	829	c.718C>T	c.(718-720)Cct>Tct	p.P240S	ZNF527_uc002ogf.3_Missense_Mutation_p.P208S|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	240					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)			TATAGGAATTCCTCCTGGGGA	0.343000														66			32		0	0	0.002445	0	0
CHST8	64377	broad.mit.edu	37	19	34263248	34263248	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:34263248C>T	uc002nus.4	+	4	1060	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CHST8_uc002nut.4_Silent_p.F185F|CHST8_uc002nuu.3_Silent_p.F185F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	185					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCCGTATCTTCGTGGAGGACC	0.706000														16			15		0	0	0.004007	0	0
PDE1C	5137	broad.mit.edu	37	7	32109931	32109931	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:32109931C>T	uc003tcm.2	-	0	536	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PDE1C_uc003tcn.1_Silent_p.E25E|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.E25E|PDE1C_uc003tcs.3_Silent_p.E25E	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	25					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)			GCCAGATTTTCTCGATCTGTT	0.517000														55			37		0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179437802	179437802	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179437802A>G	uc021vsy.1	-	274	65578	c.65353T>C	c.(65353-65355)Tca>Cca	p.S21785P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15480P|TTN_uc021vta.1_Missense_Mutation_p.S15413P|TTN_uc021vtb.1_Missense_Mutation_p.S15288P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22712	Ig-like 114.						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)			GTGATTTCTGAACCACCATCA	0.453000														27			14		0	0	0.001855	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735717	55735717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55735717C>T	uc010rit.2	-	0	223	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GTCCAAATGTCCATGAGCATT	0.383000														64			33		0	0	0.002445	0	0
PTPRC	5788	broad.mit.edu	37	1	198711129	198711129	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198711129C>T	uc001gur.1	+	23	2709	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	PTPRC_uc001gut.1_Silent_p.F682F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	843	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						GCAATTTCTTCAGTGGTCCCA	0.473000														20			7		0	0	0.003080	0	0
CSN2	1447	broad.mit.edu	37	4	70823080	70823080	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70823080A>T	uc003hes.4	-	4	600	c.587T>A	c.(586-588)cTt>cAt	p.L196H	CSN2_uc003het.4_Missense_Mutation_p.L195H	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	196					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GTTGAGCAGAAGGGCTTGAAC	0.547000														17			19		0	0	0.000958	0	0
PIDD	55367	broad.mit.edu	37	11	802267	802267	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:802267G>A	uc001lro.2	-	5	1251	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Silent_p.V222V|PIDD_uc001lrm.1_Silent_p.V55V|PIDD_uc001lrn.2_Silent_p.V222V|PIDD_uc001lrk.2_Silent_p.V368V|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	368	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GACCCAGGGGGACGAGGCCTG	0.706000														21			8		0	0	0.000443	0	0
C3orf20	84077	broad.mit.edu	37	3	14724464	14724464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14724464G>A	uc003byy.3	+	2	696	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Missense_Mutation_p.E82K	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	82						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGTGCTCATGGAACCCACCTT	0.607000														21			18		0	0	0.001882	0	0
OPN4	94233	broad.mit.edu	37	10	88418296	88418296	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:88418296C>T	uc010qmk.1	+	4	740	c.513C>T	c.(511-513)acC>acT	p.T171T	OPN4_uc001kdp.3_Silent_p.T171T|OPN4_uc001kdq.3_Silent_p.T160T|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	160					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCATGATCACCCTGACGGCCA	0.627000														26			22		0	0	0.001882	0	0
GARS	2617	broad.mit.edu	37	7	30661043	30661043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:30661043C>T	uc003tbm.3	+	10	1751	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	465					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTGATCGTTCCTGTTATGAC	0.378000														142			92		0	0	0.003610	0	0
AHDC1	27245	broad.mit.edu	37	1	27874737	27874737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:27874737G>A	uc021ojw.1	-	0	3890	c.3890C>T	c.(3889-3891)cCc>cTc	p.P1297L	AHDC1_uc009vsy.3_Missense_Mutation_p.P1297L|AHDC1_uc009vsz.1_Missense_Mutation_p.P1297L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1297							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGTGGCTTGGGGATGAACTT	0.667000														53			26		0	0	0.001061	0	0
CLCN1	1180	broad.mit.edu	37	7	143029883	143029883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143029883C>T	uc003wcr.1	+	11	1405	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	440					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGCGGGTGATCCTGAGAGCCT	0.522000														83			37		0	0	0.004878	0	0
POF1B	79983	broad.mit.edu	37	X	84562249	84562249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:84562249C>T	uc004eer.2	-	10	1230	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	POF1B_uc004ees.3_Missense_Mutation_p.D362N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	362							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AATGATAAATCTTTCTCAAGT	0.328000														1			16		0	0	0.000743	0	0
COL19A1	1310	broad.mit.edu	37	6	70897790	70897790	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:70897790G>A	uc003pfc.1	+	46	2985	c.2868G>A	c.(2866-2868)ggG>ggA	p.G956G		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	956	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGATCAGGGGATTCCAGGAG	0.473000														21			18		0	0	0.001882	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264263	85264263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85264263G>A	uc001szv.3	-	8	1982	c.1489C>T	c.(1489-1491)Ctt>Ttt	p.L497F	SLC6A15_uc010sul.2_Missense_Mutation_p.L390F	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	497					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCACCAGTAAGAATTTCTTTC	0.368000														22			24		0	0	0.004656	0	0
ZNF418	147686	broad.mit.edu	37	19	58437565	58437565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58437565G>A	uc002qqs.1	-	3	2276	c.1984C>T	c.(1984-1986)Ctc>Ttc	p.L662F	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.L577F	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGTCGAAGGAGAGAAGAGCTT	0.408000														45			30		0	0	0.002836	0	0
MECOM	2122	broad.mit.edu	37	3	168802767	168802767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168802767G>A	uc011bpj.1	-	16	4053	c.3650C>T	c.(3649-3651)tCc>tTc	p.S1217F	MECOM_uc010hwk.1_3'UTR|MECOM_uc003ffj.3_Missense_Mutation_p.S1094F|MECOM_uc003ffi.3_Missense_Mutation_p.S1029F|MECOM_uc011bpi.1_Missense_Mutation_p.S1021F|MECOM_uc003ffn.3_Missense_Mutation_p.S1029F|MECOM_uc003ffk.2_Missense_Mutation_p.S1020F|MECOM_uc003ffl.2_Missense_Mutation_p.S1180F|MECOM_uc011bpk.1_Missense_Mutation_p.S1029F	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			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						CCACACGTTGGAAGAACTGTG	0.507000														35			28		0	0	0.001512	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817021	69817021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69817021G>A	uc003hef.2	-	0	489	c.458C>T	c.(457-459)cCc>cTc	p.P153L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	153						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTCCACAGGGAATCACAGG	0.433000														26			20		0	0	0.002780	0	0
DPY19L4	286148	broad.mit.edu	37	8	95793318	95793318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:95793318C>T	uc003ygx.2	+	15	1763	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	547						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTAGTTTTTTCCCAGATTAAT	0.318000														108			114		0	0	0.003610	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227153	155227153	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155227153G>A	uc001fjs.3	-	6	936	c.702C>T	c.(700-702)ttC>ttT	p.F234F	FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.F208F	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	234					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAGAAAACGAAGAAATTGA	0.488000														17			11		0	0	0.000978	0	0
TTLL3	26140	broad.mit.edu	37	3	9877137	9877137	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9877137G>A	uc003btg.3	+	12	2759	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	761					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.A761A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGGATGGGGCGAGGCCGTGTA	0.562000														73			49		0	0	0.003610	0	0
RREB1	6239	broad.mit.edu	37	6	7231086	7231086	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:7231086C>T	uc003mxb.3	+	9	3246	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	RREB1_uc021yky.1_Silent_p.S918S|RREB1_uc003mxc.3_Silent_p.S918S|RREB1_uc010jnx.3_Silent_p.S918S|RREB1_uc021ykz.1_Silent_p.S918S|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	918					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	p.S918S(3)		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)				AAAACATCTCCTTTCTGAGCC	0.567000														26			15		0	0	0.002450	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387233	22387233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22387233G>A	uc001mqk.3	+	6	1302	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	297					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGGTGCAATGGAAGTAAGAAA	0.373000														45			20		0	0	0.001523	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969287	140969287	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140969287T>C	uc011mwp.2	+	3	614	c.614T>C	c.(613-615)cTc>cCc	p.L205P		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	205	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAGCCTCTCACAAGAGCA	0.448000														12			56		0	0	0.003610	0	0
SPPL3	121665	broad.mit.edu	37	12	121202836	121202836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121202836G>A	uc001tzd.3	-	10	1606	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	SPPL3_uc001tzc.3_Missense_Mutation_p.S204F	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	375						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTGGACTTGGAGTGGAAAGG	0.498000														26			21		0	0	0.003330	0	0
RIMS1	22999	broad.mit.edu	37	6	73108791	73108791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73108791C>T	uc003pga.3	+	32	4932	c.4855C>T	c.(4855-4857)Ctt>Ttt	p.L1619F	RIMS1_uc011dyb.2_Missense_Mutation_p.L1016F|RIMS1_uc003pgc.3_Missense_Mutation_p.L1034F|RIMS1_uc010kaq.3_Missense_Mutation_p.L939F|RIMS1_uc011dyc.2_Missense_Mutation_p.L744F|RIMS1_uc010kar.3_Missense_Mutation_p.L687F|RIMS1_uc011dyd.2_Missense_Mutation_p.L753F|RIMS1_uc003pge.3_Missense_Mutation_p.L659F|RIMS1_uc003pgf.3_Missense_Mutation_p.L619F|RIMS1_uc003pgi.3_Missense_Mutation_p.L435F|RIMS1_uc003pgg.3_Missense_Mutation_p.L515F|RIMS1_uc003pgh.3_Missense_Mutation_p.L486F|RIMS1_uc003pgd.3_Missense_Mutation_p.L685F|RIMS1_uc011dye.2_Missense_Mutation_p.L425F|RIMS1_uc011dyf.2_Missense_Mutation_p.L243F|RIMS1_uc011dyg.2_Missense_Mutation_p.L146F	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1619	C2 2.				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			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)				GGGTAAAGTTCTTCAGGTCAG	0.373000														48			23		0	0	0.004656	0	0
FGD5	152273	broad.mit.edu	37	3	14863037	14863037	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14863037A>G	uc003bzc.3	+	0	2569	c.2459A>G	c.(2458-2460)tAc>tGc	p.Y820C	FGD5_uc011avk.2_Missense_Mutation_p.Y820C	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	820					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.S820F(2)|p.S820S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AATGATGGCTACGTGGACATG	0.527000														33			23		0	0	0.001882	0	0
DPYS	1807	broad.mit.edu	37	8	105440310	105440310	+	Silent	SNP	G	A	A	rs141994148		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105440310G>A	uc003yly.4	-	5	1119	c.990C>T	c.(988-990)ttC>ttT	p.F330F		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	330					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGGTGTTGAAAGTGCAGT	0.433000														32			65		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	30936197	30936197	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:30936197G>A	uc002nsu.1	+	1	1866	c.1728G>A	c.(1726-1728)caG>caA	p.Q576Q	ZNF536_uc010edd.1_Silent_p.Q576Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCTCCAAGCAGAAAATGCCTG	0.522000														39			28		0	0	0.004656	0	0
COL13A1	1305	broad.mit.edu	37	10	71688693	71688693	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:71688693G>A	uc001jql.3	+	27	1926	c.1390_splice	c.e27-1	p.G464_splice	COL13A1_uc021prz.1_Splice_Site_p.G442_splice|COL13A1_uc021psa.1_Splice_Site_p.G407_splice|COL13A1_uc021psb.1_Splice_Site_p.G413_splice|COL13A1_uc001jqk.2_Splice_Site_p.G442_splice|COL13A1_uc021psc.1_Splice_Site_p.G445_splice|COL13A1_uc021psd.1_Splice_Site_p.G442_splice|COL13A1_uc010qjf.2_Splice_Site_p.G407_splice|COL13A1_uc021pse.1_Splice_Site_p.G413_splice|COL13A1_uc021psf.1_Splice_Site_p.G464_splice|COL13A1_uc021psg.1_Splice_Site_p.G442_splice|COL13A1_uc021psh.1_Splice_Site_p.G445_splice	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	464	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TCTCTCCTAGGGGCCTCCTGG	0.527000														14			10		0	0	0.001368	0	0
OR10J5	127385	broad.mit.edu	37	1	159505008	159505008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159505008C>T	uc010piw.2	-	0	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ATTGAACTTTCTGACTTCGGC	0.488000														31			31		0	0	0.002445	0	0
NPR1	4881	broad.mit.edu	37	1	153665843	153665843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:153665843C>T	uc001fcs.4	+	21	3560	c.3139C>T	c.(3139-3141)Cgg>Tgg	p.R1047W	NPR1_uc010pdz.2_Missense_Mutation_p.R793W|NPR1_uc010pea.2_Missense_Mutation_p.R525W	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	1047					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGGCAAGGTTCGGACCTACTG	0.597000														40			42		0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61747770	61747770	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:61747770C>T	uc002eog.2	-	9	2584	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	543	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P543P(2)|p.P543L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGTGAAATTCGGATTGTTGA	0.333000														31			21		0	0	0.001523	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110463372	110463372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110463372G>A	uc003yne.3	+	40	6448	c.6344G>A	c.(6343-6345)gGa>gAa	p.G2115E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2115	IPT/TIG 14.				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)			GTGGGATCAGGATTCAGGTAC	0.512000										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			9		0	0	0.000443	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768859	127768859	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:127768859T>A	uc011ebs.2	-	4	941	c.605A>T	c.(604-606)gAa>gTa	p.E202V	KIAA0408_uc003qbc.3_Missense_Mutation_p.E202V|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.E85V	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	202							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ATTTGGCATTTCCTGGAGAAA	0.338000														35			22		0	0	0.003954	0	0
SLC29A3	55315	broad.mit.edu	37	10	73104034	73104034	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:73104034C>A	uc001jrr.4	+	2	426	c.369C>A	c.(367-369)ttC>ttA	p.F123L	SLC29A3_uc001jrs.4_Missense_Mutation_p.F123L|SLC29A3_uc010qjq.2_Intron|SLC29A3_uc001jrt.4_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	123					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGCCAACTTCCTGCTTGTCA	0.572000														38			17		2.39187e-15	5.03043e-15	0.001216	1	0
EIF4G3	8672	broad.mit.edu	37	1	21329214	21329214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21329214G>A	uc001bec.3	-	2	278	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	EIF4G3_uc010odj.2_Missense_Mutation_p.R8C|EIF4G3_uc009vpz.3_Missense_Mutation_p.R8C|EIF4G3_uc001bef.3_Missense_Mutation_p.R8C|EIF4G3_uc001bee.3_Missense_Mutation_p.R8C|EIF4G3_uc001beg.3_Missense_Mutation_p.R8C|EIF4G3_uc010odk.2_Missense_Mutation_p.R8C|EIF4G3_uc001beh.3_Missense_Mutation_p.R8C	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	8					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACCGGAGAACGGGTTTGAGGT	0.443000														127			113		0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051353	147051353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:147051353C>T	uc010jgo.1	-	0	165	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R6Q|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Missense_Mutation_p.R6Q	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	6						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTATTTCGCCCTTTCTT	0.458000														9			12		0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82580373	82580373	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82580373C>T	uc003uhx.2	-	5	9820	c.9531G>A	c.(9529-9531)acG>acA	p.T3177T	PCLO_uc003uhv.2_Silent_p.T3177T|PCLO_uc010lec.3_Silent_p.T142T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3108	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T3177T(3)|p.T3108T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAGTCTATCGTCTCAGCAG	0.413000														13			27		0	0	0.001512	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18707036	18707036	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:18707036C>A	uc003zne.4	+	13	2018	c.1866C>A	c.(1864-1866)tcC>tcA	p.S622S		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	622	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCTCCGAGTCCTGTGGAGGAG	0.537000														7			11		1.5842e-08	3.31761e-08	0.001855	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175481	143175481	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143175481G>A	uc003wdc.1	+	0	516	c.516G>A	c.(514-516)tgG>tgA	p.W172*	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	172					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTACAAGTGGAATACAAGGA	0.343000														52			13		0	0	0.001855	0	0
C20orf132	140699	broad.mit.edu	37	20	35738689	35738689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:35738689G>A	uc010zvu.2	-	22	2975	c.2884C>T	c.(2884-2886)Ccc>Tcc	p.P962S	C20orf132_uc002xgk.3_Missense_Mutation_p.P594S	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CTTCTGATGGGAAGTTTTGGG	0.373000														82			155		0	0	0.003610	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107163	120107163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:120107163G>A	uc003icp.4	+	5	816	c.603G>A	c.(601-603)atG>atA	p.M201I		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	201							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CATCAAGAATGGTTAAATTTA	0.348000														38			19		0	0	0.002299	0	0
STK17A	9263	broad.mit.edu	37	7	43663439	43663439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43663439C>T	uc003tih.3	+	5	1023	c.872C>T	c.(871-873)tCt>tTt	p.S291F	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	291	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GATGTTTTGTCTGAGTCGGCT	0.279000														39			29		0	0	0.002445	0	0
SPAG17	200162	broad.mit.edu	37	1	118539095	118539095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:118539095C>T	uc001ehk.2	-	33	5019	c.4951G>A	c.(4951-4953)Gga>Aga	p.G1651R	SPAG17_uc021osr.1_Missense_Mutation_p.G161R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1651						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)		AGTTCCATTCCTGATCCATCA	0.338000														65			37		0	0	0.002522	0	0
GRID1	2894	broad.mit.edu	37	10	87362322	87362322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:87362322G>A	uc001kdl.1	-	15	2839	c.2738C>T	c.(2737-2739)aCc>aTc	p.T913I	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.T484I|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	913						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGGCTCCAAGGTCTGGGTGGG	0.602000										Multiple Myeloma(13;0.14)				14			8		0	0	0.000443	0	0
FNBP4	23360	broad.mit.edu	37	11	47744678	47744678	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47744678A>T	uc009ylv.3	-	14	2808	c.2655T>A	c.(2653-2655)gcT>gcA	p.A885A	FNBP4_uc001ngj.3_Silent_p.A792A	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	885										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCAATGAGGGAGCAGTCACTC	0.547000														15			10		0	0	0.000443	0	0
EPHB2	2048	broad.mit.edu	37	1	23232533	23232533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:23232533G>A	uc009vqj.1	+	9	1964	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	EPHB2_uc001bge.3_Missense_Mutation_p.E608K|EPHB2_uc001bgf.3_Missense_Mutation_p.E607K|EPHB2_uc010odu.2_Missense_Mutation_p.E549K	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	607					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E607K(2)|p.N606N(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCCCAACGAGGCAGTGCG	0.517000														24			19		0	0	0.000743	0	0
TGM3	7053	broad.mit.edu	37	20	2293547	2293547	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2293547G>T	uc002wfx.4	+	4	641	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	182					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)	TGAACAGTTTGAAGAAGACAT	0.453000														35			43		1.22102e-19	2.57215e-19	0.003610	1	0
SLC6A1	6529	broad.mit.edu	37	3	11067521	11067521	+	Silent	SNP	C	T	T	rs35450949	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:11067521C>T	uc010hdq.3	+	8	1323	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	304					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGTCCCTGATCGCTCTCGGGA	0.532000														36			36		0	0	0.001706	0	0
RYR2	6262	broad.mit.edu	37	1	237632407	237632407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:237632407G>A	uc001hyl.1	+	16	1748	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	543					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)			CTAATTAGAGGAAATCGTAAA	0.373000														45			36		0	0	0.004878	0	0
ME1	4199	broad.mit.edu	37	6	83921771	83921771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:83921771G>A	uc003pjy.3	-	13	1856	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	ME1_uc011dzb.2_Missense_Mutation_p.P456S|ME1_uc011dzc.2_Missense_Mutation_p.P365S	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	531					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TGCGGTTCAGGATAAACTGTG	0.358000														33			38		0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	96962854	96962854	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:96962854G>A	uc010how.1	+	4	1372	c.1329G>A	c.(1327-1329)ttG>ttA	p.L443L	EPHA6_uc003drp.1_Silent_p.L443L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	348	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCTTATTTTGGAATGGAGCC	0.418000														14			15		0	0	0.000958	0	0
OXCT1	5019	broad.mit.edu	37	5	41801134	41801134	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41801134G>A	uc003jmn.3	-	10	1420	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	363					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CTGCATTGATGAGATCTGCAT	0.358000														40			22		0	0	0.003954	0	0
AV4S1	0	broad.mit.edu	37	14	22671067	22671067	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22671067C>T	uc021rpv.1	+	1	122	c.87C>T	c.(85-87)atC>atT	p.I29I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		ACTCCACAATCAGTGGAACTG	0.458000														27			11		0	0	0.001368	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949831	44949831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:44949831C>T	uc002zdi.3	-	8	1140	c.808G>A	c.(808-810)Gag>Aag	p.E270K	HSF2BP_uc011aey.2_Missense_Mutation_p.E195K	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	270					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGGCACACCTCTGCATCTGGA	0.453000														21			22		0	0	0.002780	0	0
ABCC8	6833	broad.mit.edu	37	11	17436075	17436075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17436075G>A	uc001mnc.3	-	18	2500	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	792	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTGTTGAAGGGACTCTCAAAG	0.582000														174			118		0	0	0.003610	0	0
LRRC55	219527	broad.mit.edu	37	11	56949683	56949683	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56949683C>T	uc001njl.2	+	0	463	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	76						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCCCCCAGACCTGCCAATGGA	0.612000														10			10		0	0	0.000978	0	0
CHD5	26038	broad.mit.edu	37	1	6228297	6228297	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:6228297G>A	uc001amb.2	-	1	231	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	40					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCCACAGGGAAAAAGTCAT	0.502000														94			58		0	0	0.003610	0	0
MARCH1	55016	broad.mit.edu	37	4	164466772	164466772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:164466772C>T	uc003iqs.2	-	6	729	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MARCH1_uc003iqr.2_Missense_Mutation_p.E166K	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	183					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCTTGATTTCCTCCGCTGTC	0.433000														28			25		0	0	0.003954	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516539	118516539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118516539C>T	uc001ptr.2	+	17	3856	c.3503C>T	c.(3502-3504)tCg>tTg	p.S1168L	PHLDB1_uc001pts.3_Missense_Mutation_p.S1168L|PHLDB1_uc001ptt.3_Missense_Mutation_p.S1121L|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.S983L|PHLDB1_uc001ptw.2_Missense_Mutation_p.S523L|PHLDB1_uc009zai.2_Missense_Mutation_p.S204L|PHLDB1_uc001ptx.2_Missense_Mutation_p.S204L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1168										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)		CTCATGGAGTCGAGGGTGAGT	0.592000														25			17		0	0	0.004990	0	0
CPXM2	119587	broad.mit.edu	37	10	125528047	125528047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125528047C>T	uc001lhk.1	-	8	1619	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	432					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATTACCCCTTCGTAGGCCTTC	0.612000														18			6		0	0	0.001168	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263828	55263828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55263828G>A	uc002qgx.3	+	7	920	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIR3DL2_uc010yfj.2_5'Flank|KIR2DL1_uc010erw.1_Intron|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.	294					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.527000														153			83		0	0	0.003610	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693162	208693162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:208693162G>A	uc002vcl.2	-	7	2657	c.2167C>T	c.(2167-2169)Ccg>Tcg	p.P723S		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	723					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACACCTCGGGCAGGGGACA	0.507000														34			13		0	0	0.001855	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493372	29493372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29493372G>A	uc002kxc.4	-	4	1095	c.731C>T	c.(730-732)cCt>cTt	p.P244L	TRAPPC8_uc002kxb.4_Missense_Mutation_p.P190L|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.P244L|TRAPPC8_uc002kxe.2_Missense_Mutation_p.P244L	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	244					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.P244H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGACTCCAAGGATCTGGTAT	0.318000														57			33		0	0	0.002836	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283624	40283624	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40283624C>T	uc003ayg.3	-	1	380	c.129G>A	c.(127-129)ttG>ttA	p.L43L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	43	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTTGAAAGTCAAGTCACTGA	0.423000														42			37		0	0	0.003755	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543265	46543265	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:46543265G>A	uc010tfw.1	-	12	3420	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Silent_p.S1138S|ZC3H13_uc001vat.1_Silent_p.S1138S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1138							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tggcagaggtggaaatagtga	0.512000														30			24		0	0	0.002299	0	0
OR2G2	81470	broad.mit.edu	37	1	247751937	247751937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247751937G>A	uc010pyy.2	+	0	276	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	92					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)			GGGAACCCATGAAAACTATCG	0.522000														55			49		0	0	0.003610	0	0
IL20RA	53832	broad.mit.edu	37	6	137322750	137322750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:137322750G>A	uc003qhj.3	-	6	2040	c.1607C>T	c.(1606-1608)aCc>aTc	p.T536I	IL20RA_uc011edl.2_Missense_Mutation_p.T487I|IL20RA_uc003qhk.3_Missense_Mutation_p.T425I|IL20RA_uc003qhi.3_Missense_Mutation_p.T268I	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	536						integral to membrane	receptor activity	p.T536A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CATGAGATAGGTTTCATTTTC	0.502000														95			70		0	0	0.003610	0	0
UGGT1	56886	broad.mit.edu	37	2	128900740	128900740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128900740C>T	uc002tps.3	+	16	1970	c.1792C>T	c.(1792-1794)Ccg>Tcg	p.P598S	UGGT1_uc010fme.1_Missense_Mutation_p.P473S|UGGT1_uc002tpr.3_Missense_Mutation_p.P574S	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	598					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGAAATATCCGTATGTAGA	0.358000														46			37		0	0	0.005524	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800530	74800530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:74800530G>A	uc010rro.2	-	0	229	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GTGGTGAAAAGGATGTCCAAG	0.527000														23			29		0	0	0.001061	0	0
FCRL1	115350	broad.mit.edu	37	1	157772449	157772449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157772449G>A	uc001frg.3	-	3	438	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.P109S|FCRL1_uc001fri.3_Missense_Mutation_p.P109S|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	109	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCAGCGACAGGGACCCCTGTG	0.537000														14			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179644801	179644801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179644801C>T	uc021vsy.1	-	21	3880	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	TTN_uc021vsz.1_Missense_Mutation_p.E1173K|TTN_uc021vta.1_Missense_Mutation_p.E1173K|TTN_uc021vtb.1_Missense_Mutation_p.E1173K|TTN_uc002unb.2_Missense_Mutation_p.E1219K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1219							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K1218N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTtctttttcatactctttt	0.358000														62			29		0	0	0.001512	0	0
ANP32C	23520	broad.mit.edu	37	4	165118166	165118166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:165118166C>T	uc011cjk.2	-	0	698	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	233								p.R233Q(2)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ttctcattttcgcttctgacc	0.423000														20			8		0	0	0.000673	0	0
abParts	0	broad.mit.edu	37	22	23265077	23265077	+	RNA	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23265077T>C	uc021wml.1	+	445		c.18546T>C								Parts of antibodies, mostly variable regions.																		CCCTGCAGAATGCTCTTAGGC	0.652000														15			7		0	0	0.003080	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958532	57958532	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57958532G>A	uc010rka.2	+	0	627	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCTCCTGTGGGGACAGCTACA	0.443000														22			23		0	0	0.001882	0	0
TTLL9	164395	broad.mit.edu	37	20	30475014	30475014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30475014G>A	uc010gdx.1	+	2	338	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.G38E|TTLL9_uc010ztp.1_Intron	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	29					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAATTACAAGGGCCATGGATT	0.443000														32			25		0	0	0.002096	0	0
CLCC1	23155	broad.mit.edu	37	1	109479864	109479865	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109479864_109479865GG>TT	uc021ora.1	-	8	1228_1229	c.1217_1218CC>AA	c.(1216-1218)ccc>cAA	p.P406Q	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.P356Q|CLCC1_uc001dwf.1_Missense_Mutation_p.P406Q|CLCC1_uc009wes.1_Missense_Mutation_p.P285Q|CLCC1_uc009wet.1_Missense_Mutation_p.P221Q	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	406						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTTGCTCAGTGGGGCCCATTTG	0.500000														546			12		0	0	0.004672	0	0
CDH2	1000	broad.mit.edu	37	18	25568577	25568577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:25568577C>T	uc002kwg.2	-	10	2111	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CDH2_uc010xbn.1_Missense_Mutation_p.G520E	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	551	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G551E(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTTATTTGTCCATTCACAGG	0.308000														28			20		0	0	0.001216	0	0
TRPC1	7220	broad.mit.edu	37	3	142455375	142455375	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142455375G>A	uc003evc.3	+	2	463	c.327_splice	c.e2+1	p.Q109_splice	TRPC1_uc003evb.3_Splice_Site_p.Q109_splice	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	109					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACGGTTGTCAGGTACAAGGCT	0.373000														57			35		0	0	0.004289	0	0
GPR98	84059	broad.mit.edu	37	5	90052350	90052350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90052350G>A	uc003kju.3	+	55	11756	c.11660G>A	c.(11659-11661)gGa>gAa	p.G3887E	GPR98_uc003kjt.3_Missense_Mutation_p.G1593E|GPR98_uc003kjv.3_Missense_Mutation_p.G1487E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3887					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)		TTCTCTACAGGACAGCCAAGT	0.448000														13			46		0	0	0.003610	0	0
PLOD2	5352	broad.mit.edu	37	3	145790401	145790401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:145790401C>T	uc003evr.1	-	16	2301	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	PLOD2_uc003evq.1_Missense_Mutation_p.E259K|PLOD2_uc011bnm.1_Missense_Mutation_p.E544K|PLOD2_uc003evs.1_Missense_Mutation_p.E578K	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	578					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTACCAATTCATCACAGGCT	0.363000														30			12		0	0	0.001368	0	0
SLC28A1	9154	broad.mit.edu	37	15	85448872	85448872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:85448872G>A	uc002blg.3	+	7	908	c.706G>A	c.(706-708)Gag>Aag	p.E236K	SLC28A1_uc010upd.1_Missense_Mutation_p.E158K|SLC28A1_uc010bnb.3_Missense_Mutation_p.E236K|SLC28A1_uc010upe.2_Missense_Mutation_p.E236K|SLC28A1_uc010upf.1_Missense_Mutation_p.E236K|SLC28A1_uc010upg.1_Missense_Mutation_p.E236K	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	236					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGCTGGGCGAGCAGATCCG	0.567000														28			9		0	0	0.000443	0	0
XIRP2	129446	broad.mit.edu	37	2	168103448	168103448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168103448G>A	uc002udx.3	+	8	5635	c.5546G>A	c.(5545-5547)aGc>aAc	p.S1849N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S1674N|XIRP2_uc010fpq.3_Missense_Mutation_p.S1627N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1674					actin cytoskeleton organization	cell junction	actin binding	p.S1849N(2)		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						AATTCCCTCAGCCAGGCTGTA	0.383000														28			23		0	0	0.002780	0	0
RASAL1	8437	broad.mit.edu	37	12	113544974	113544974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113544974G>A	uc001tun.2	-	15	1889	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S	RASAL1_uc010syp.2_Missense_Mutation_p.P529S|RASAL1_uc001tul.3_Missense_Mutation_p.P529S|RASAL1_uc001tum.2_Missense_Mutation_p.P529S|RASAL1_uc010syq.2_Missense_Mutation_p.P529S|RASAL1_uc001tuo.4_Missense_Mutation_p.P529S|RASAL1_uc010syr.2_3'UTR	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	529					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCAGGAAGGGGTGCAGGGGG	0.617000														26			11		0	0	0.001368	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666839	116666839	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:116666839G>A	uc001egc.1	+	3	607	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	114										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGCAGTGGCTGGAGGTGGAAC	0.607000														27			18		0	0	0.001216	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480632	27480632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:27480632G>A	uc002dov.2	-	31	5094	c.5054C>T	c.(5053-5055)cCc>cTc	p.P1685L	GTF3C1_uc002dou.3_Missense_Mutation_p.P1685L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1685						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGCCGGGCGGGCACAGGGGT	0.657000														5			8		0	0	0.004482	0	0
GLI3	2737	broad.mit.edu	37	7	42064977	42064977	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:42064977C>T	uc011kbh.2	-	9	1334	c.1243_splice	c.e9-1	p.N415_splice	GLI3_uc011kbg.2_Splice_Site_p.N356_splice	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	415					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGGCTTGTTCTGCTGGTCAC	0.502000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					21			25		0	0	0.005443	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951918	119951918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119951918C>T	uc010inb.3	+	3	2184	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	SYNPO2_uc010ina.3_Missense_Mutation_p.S663L|SYNPO2_uc003icm.4_Missense_Mutation_p.S663L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S591L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	663						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTTTACGATTCGTCTGAGCGA	0.567000														28			17		0	0	0.000743	0	0
SALL1	6299	broad.mit.edu	37	16	51174059	51174059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:51174059G>A	uc021tif.1	-	1	2105	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	SALL1_uc021tid.1_Nonsense_Mutation_p.Q595*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q692*|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	692					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCAGTTGCTGAAGCTTGGAC	0.532000														48			34		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179452278	179452278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179452278C>T	uc021vsy.1	-	254	56279	c.56054G>A	c.(56053-56055)gGa>gAa	p.G18685E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12380E|TTN_uc021vta.1_Missense_Mutation_p.G12313E|TTN_uc021vtb.1_Missense_Mutation_p.G12188E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19612	Fibronectin type-III 35.						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)			AGCCTTTTCTCCTGCTGGGTT	0.423000														13			4		0	0	0.000248	0	0
ANXA2	302	broad.mit.edu	37	15	60656652	60656652	+	Silent	SNP	G	A	A	rs140871735	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:60656652G>A	uc002agm.3	-	3	346	c.273C>T	c.(271-273)ttC>ttT	p.F91F	ANXA2_uc002agk.3_Silent_p.F73F|ANXA2_uc002agn.3_Silent_p.F73F|ANXA2_uc002agl.3_Silent_p.F73F|ANXA2_uc010uhd.2_Non-coding_Transcript|ANXA2_uc010bgj.3_Silent_p.F73F	NM_001002858	NP_001002858	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 1, mRNA.	73					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TCTGGTAGGCGAAGGCAATAT	0.423000														32			18		0	0	0.000958	0	0
TNPO2	30000	broad.mit.edu	37	19	12826066	12826066	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12826066G>A	uc002mup.3	-	5	1377	c.915C>T	c.(913-915)acC>acT	p.T305T	TNPO2_uc002muq.3_Silent_p.T213T|TNPO2_uc002muo.3_Silent_p.T213T|TNPO2_uc002mur.3_Silent_p.T213T	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	213					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCGATGAAGGTGTCAATAT	0.647000														10			13		0	0	0.002450	0	0
DPYSL4	10570	broad.mit.edu	37	10	134013999	134013999	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:134013999C>T	uc009ybb.3	+	8	1105	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	317					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGGACCACCTCACCTGCTTGC	0.667000														16			9		0	0	0.000673	0	0
CCDC108	255101	broad.mit.edu	37	2	219903697	219903697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219903697G>A	uc002vjl.1	-	2	158	c.74C>T	c.(73-75)tCt>tTt	p.S25F	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.3_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	25						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAAAGAAGAGGCAAATGA	0.408000														34			15		0	0	0.002450	0	0
SCARF1	8578	broad.mit.edu	37	17	1542987	1542987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:1542987G>A	uc002fsz.1	-	6	1239	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	SCARF1_uc002fsy.1_Missense_Mutation_p.P397S|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Intron	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	397					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CATTCACAAGGAACTGAGCAG	0.617000														0			8		0	0	0.000673	0	0
PRR23C	389152	broad.mit.edu	37	3	138762997	138762997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:138762997C>T	uc011bmt.1	-	0	738	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	156										breast(2)|lung(7)|skin(2)	11						GCGTCCTCCTCGTAGGCCTCT	0.632000														3			4		0	0	0.000248	0	0
UPF1	5976	broad.mit.edu	37	19	18976399	18976399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18976399C>T	uc002nkg.3	+	21	3357	c.3082C>T	c.(3082-3084)Cgt>Tgt	p.R1028C	UPF1_uc002nkf.3_Missense_Mutation_p.R1017C|UPF1_uc002nkh.3_Missense_Mutation_p.R272C	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1028					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAAGACTGGTCGTGGGGGACG	0.627000														30			21		0	0	0.001523	0	0
AMPD3	272	broad.mit.edu	37	11	10503757	10503757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10503757G>A	uc001min.1	+	3	946	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	AMPD3_uc010rbz.1_Missense_Mutation_p.E33K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.E192K|AMPD3_uc001mio.1_Missense_Mutation_p.E192K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E199K|AMPD3_uc009yfy.2_Missense_Mutation_p.E192K	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	192					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCACCTCCGGAAGAGGGCCT	0.607000														25			22		0	0	0.003954	0	0
CNR1	1268	broad.mit.edu	37	6	88854040	88854040	+	Silent	SNP	G	A	A	rs77173482		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:88854040G>A	uc010kbz.3	-	1	1084	c.954C>T	c.(952-954)atC>atT	p.I318I	CNR1_uc011dzr.2_Silent_p.I318I|CNR1_uc011dzs.2_Silent_p.I318I|CNR1_uc003pmq.4_Silent_p.I318I|CNR1_uc011dzt.2_Silent_p.I318I|CNR1_uc010kca.3_Silent_p.I285I|CNR1_uc021zco.1_Silent_p.I318I	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	318					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			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)	ACGTGTGGATGATGATGCTCT	0.547000														40			28		0	0	0.004656	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028531	38028531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38028531G>A	uc002hte.3	+	4	568	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	ZPBP2_uc002htf.3_Missense_Mutation_p.E117K	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	139					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCCTATCGGGAACCTGATTA	0.328000														17			66		0	0	0.003610	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33412331	33412331	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33412331C>T	uc011dri.2	+	15	3714	c.3519C>T	c.(3517-3519)atC>atT	p.I1173I	SYNGAP1_uc010juy.3_Silent_p.I1144I|SYNGAP1_uc010juz.3_Silent_p.I885I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	1173					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTGCCCACATCGAGCGGGAAG	0.567000														14			5		0	0	0.000602	0	0
ZNF583	147949	broad.mit.edu	37	19	56935630	56935630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56935630C>T	uc010ygl.1	+	4	1768	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F	ZNF583_uc002qnc.2_Missense_Mutation_p.L535F|ZNF583_uc010ygm.1_Missense_Mutation_p.L535F	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GCGTGCACATCTTGCTCATCA	0.418000														40			31		0	0	0.001786	0	0
PLCH2	9651	broad.mit.edu	37	1	2428416	2428417	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:2428416_2428417CC>TT	uc001aji.1	+	14	2354_2355	c.2080_2081CC>TT	c.(2080-2082)ccg>TTg	p.P694L	PLCH2_uc010nyz.2_Missense_Mutation_p.P483L|PLCH2_uc009vle.1_Missense_Mutation_p.P483L|PLCH2_uc001ajj.1_Missense_Mutation_p.P483L|PLCH2_uc001ajk.1_Missense_Mutation_p.P483L|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	695	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAACTACAACCCGCAGCCCTTC	0.644000														10			7		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152275979	152275979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152275979C>T	uc001ezu.1	-	2	11419	c.11383G>A	c.(11383-11385)Gga>Aga	p.G3795R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3795	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3795*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACCTTCCCTGGGATGTG	0.577000									Ichthyosis					238			95		0	0	0.003610	0	0
POTEE	445582	broad.mit.edu	37	2	132021551	132021552	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132021551_132021552CC>TT	uc002tsn.2	+	14	2575_2576	c.2523_2524CC>TT	c.(2521-2526)tccctg>tcTTtg	p.841_842SL>SL	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.441_442SL>SL|POTEE_uc002tsl.2_Silent_p.423_424SL>SL|POTEE_uc010fmy.1_Silent_p.305_306SL>SL	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	841	Actin-like.						ATP binding										CCGTGCCGTCCCTGTACACCTC	0.609000														90			42		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215901522	215901522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215901522C>T	uc001hku.1	-	60	12303	c.11916G>A	c.(11914-11916)tgG>tgA	p.W3972*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3972	Fibronectin type-III 25.				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)		TGGCTTGAGCCCAAGGAGCTG	0.488000										HNSCC(13;0.011)				56			27		0	0	0.004656	0	0
MAP3K5	4217	broad.mit.edu	37	6	136923095	136923095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136923095G>A	uc003qhc.3	-	19	3063	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	MAP3K5_uc011edj.2_Missense_Mutation_p.P148L|MAP3K5_uc011edk.1_Missense_Mutation_p.P746L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	901	Protein kinase.				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)		TGGGATCTCAGGGTGGACTTT	0.443000														34			27		0	0	0.002096	0	0
SLFN11	91607	broad.mit.edu	37	17	33690076	33690076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33690076C>T	uc002hjg.4	-	1	998	c.751G>A	c.(751-753)Gat>Aat	p.D251N	SLFN11_uc010ctr.3_Missense_Mutation_p.D251N|SLFN11_uc010ctp.3_Missense_Mutation_p.D251N|SLFN11_uc010ctq.3_Missense_Mutation_p.D251N|SLFN11_uc002hjh.4_Missense_Mutation_p.D251N	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	251						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTTATCATCCACTCCAATA	0.393000														15			79		0	0	0.003610	0	0
TNC	3371	broad.mit.edu	37	9	117846615	117846615	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:117846615G>A	uc004bjj.4	-	3	2416	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	TNC_uc010mvf.3_Silent_p.F668F|TNC_uc022bmj.1_Silent_p.F668F	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	668	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.F668F(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCACACGGAACTGCATTT	0.567000														9			30		0	0	0.001512	0	0
SCN9A	6335	broad.mit.edu	37	2	167085452	167085452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167085452G>A	uc010fpl.3	-	21	4263	c.3922C>T	c.(3922-3924)Cct>Tct	p.P1308S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1319						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGATGGAAGGAATTGCTCCT	0.353000														51			50		0	0	0.003610	0	0
OR8D1	283159	broad.mit.edu	37	11	124179772	124179772	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124179772C>T	uc010sag.2	-	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D296N(1)		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)		ATGCTTTCTTCACATCCTTAT	0.408000														28			23		0	0	0.002299	0	0
PLCB4	5332	broad.mit.edu	37	20	9353042	9353042	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:9353042C>T	uc021wam.1	+	7	693	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PLCB4_uc010gbw.1_Silent_p.F226F|PLCB4_uc010gbx.3_Silent_p.F226F|PLCB4_uc021wal.1_Silent_p.F226F|PLCB4_uc002wnh.3_Silent_p.F73F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	226					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGATCTTTTCAAAAAAATGT	0.313000														22			18		0	0	0.004990	0	0
AGAP5	729092	broad.mit.edu	37	10	75435613	75435613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75435613G>A	uc009xri.3	-	7	846	c.805C>T	c.(805-807)Ccg>Tcg	p.P269S	AGAP5_uc001juu.4_Missense_Mutation_p.P230S	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	269					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGATTCTCCGGGGCTTTCCTC	0.537000														63			45		0	0	0.003610	0	0
ACIN1	22985	broad.mit.edu	37	14	23530347	23530347	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23530347G>A	uc001wit.4	-	17	3973	c.3645C>T	c.(3643-3645)ttC>ttT	p.F1215F	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Silent_p.F457F|ACIN1_uc001wiq.4_Silent_p.F457F|ACIN1_uc001wir.4_Silent_p.F488F|ACIN1_uc001wis.4_Silent_p.F896F|ACIN1_uc010akg.3_Silent_p.F1202F|ACIN1_uc010tnj.2_Silent_p.F1175F	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1215	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGGTCTTTCGGAAAAGGTCAT	0.547000														10			44		0	0	0.003610	0	0
CNPY1	285888	broad.mit.edu	37	7	155301617	155301617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:155301617G>A	uc003wmc.1	-	1	261	c.116C>T	c.(115-117)tCt>tTt	p.S39F		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	Homo sapiens canopy 1 homolog (zebrafish) (CNPY1), mRNA.	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368000														65			19		0	0	0.001523	0	0
MYH7B	57644	broad.mit.edu	37	20	33586397	33586397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33586397G>A	uc002xbi.2	+	33	4401	c.4084G>A	c.(4084-4086)Gaa>Aaa	p.E1362K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1320						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)			CCAAAGCCTGGAAGAGTTGCG	0.637000														46			18		0	0	0.001523	0	0
MLL2	8085	broad.mit.edu	37	12	49426047	49426047	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49426047G>A	uc001rta.4	-	38	12441	c.12441C>T	c.(12439-12441)tcC>tcT	p.S4147S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4147	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCTGGGTCATGGACCCAGGCT	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				19			11		0	0	0.001368	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060830	48060830	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:48060830C>T	uc010bek.3	+	17	2178	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	SEMA6D_uc001zvw.3_Intron|SEMA6D_uc001zvy.3_Silent_p.I606I|SEMA6D_uc001zvz.3_Intron|SEMA6D_uc001zwa.3_Intron|SEMA6D_uc001zwb.3_Intron|SEMA6D_uc001zwc.3_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	606					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCAGAAATCACACCTAAAG	0.368000														31			22		0	0	0.001523	0	0
DOK3	79930	broad.mit.edu	37	5	176931477	176931477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176931477G>A	uc003mhk.3	-	5	1003	c.998C>T	c.(997-999)tCc>tTc	p.S333F	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	333	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGTGTCCAGGGAGGGCAGAGA	0.731000														0			8		0	0	0.000673	0	0
FAM65B	9750	broad.mit.edu	37	6	24865552	24865552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24865552G>A	uc003neo.1	-	6	717	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	FAM65B_uc011djs.1_Missense_Mutation_p.R210W|FAM65B_uc011dju.2_Missense_Mutation_p.R215W|FAM65B_uc003nep.3_Missense_Mutation_p.R181W|FAM65B_uc011djt.2_Missense_Mutation_p.R181W	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	181					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTGAAGCTCCGATTGATCTCT	0.517000														31			28		0	0	0.002096	0	0
DAB1	1600	broad.mit.edu	37	1	57611028	57611028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57611028C>T	uc009vzx.1	-	2	462	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	DAB1_uc001cyt.1_Missense_Mutation_p.G48R|DAB1_uc001cyq.1_Missense_Mutation_p.G48R|DAB1_uc001cyr.1_Missense_Mutation_p.G48R|DAB1_uc009vzw.1_Missense_Mutation_p.G48R|DAB1_uc001cys.1_Missense_Mutation_p.G48R	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	48	PID.				cell differentiation|nervous system development			p.G48W(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCATCAATCCCGATCAATTTG	0.413000														37			27		0	0	0.001512	0	0
NMD3	51068	broad.mit.edu	37	3	160965057	160965057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:160965057C>T	uc003feb.1	+	12	1261	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	NMD3_uc003fec.3_Missense_Mutation_p.A381V|NMD3_uc003fed.1_Missense_Mutation_p.A381V|NMD3_uc010hwh.3_Missense_Mutation_p.A201V	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	381					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTTGATTTGGCCAACTGTAAC	0.328000														35			13		0	0	0.002450	0	0
SSPO	23145	broad.mit.edu	37	7	149492370	149492370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:149492370G>A	uc010lpk.3	+	41	6250	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2087	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCAGCTGGAACACCCCAC	0.667000														19			22		0	0	0.004656	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713473	70713473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:70713473G>A	uc010ttg.2	-	0	1046	c.395C>T	c.(394-396)tCa>tTa	p.S132L						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACTTATAAGTGAATTTTTTAT	0.383000														12			63		0	0	0.003610	0	0
WSCD1	23302	broad.mit.edu	37	17	6023659	6023659	+	Missense_Mutation	SNP	C	T	T	rs148765035		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:6023659C>T	uc010cli.3	+	8	1785	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	WSCD1_uc002gcn.3_Missense_Mutation_p.S469L|WSCD1_uc002gco.3_Missense_Mutation_p.S469L|WSCD1_uc010clj.3_Missense_Mutation_p.S160L	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	469						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCTACGCCTCGTGGTGGTCC	0.672000														22			94		0	0	0.003610	0	0
DOPEY1	23033	broad.mit.edu	37	6	83866994	83866994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:83866994C>T	uc011dyy.2	+	34	6931	c.6671C>T	c.(6670-6672)cCc>cTc	p.P2224L	DOPEY1_uc003pjs.1_Missense_Mutation_p.P2233L|DOPEY1_uc010kbl.1_Missense_Mutation_p.P2224L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2233					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAATGTCTCCCCAACATCTT	0.383000														64			27		0	0	0.001271	0	0
DCC	1630	broad.mit.edu	37	18	51053061	51053061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:51053061C>T	uc002lfe.2	+	27	4802	c.4186C>T	c.(4186-4188)Cct>Tct	p.P1396S	DCC_uc010dpf.2_Missense_Mutation_p.P1029S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1396					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTTTGCTTCCTGTGTCTGT	0.473000														43			18		0	0	0.004990	0	0
FAM71C	196472	broad.mit.edu	37	12	100042316	100042316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:100042316C>T	uc001tgn.3	+	0	789	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	122										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CAGGCTGCTTCCCTTGATGTT	0.517000														46			24		0	0	0.003330	0	0
LCE3D	84648	broad.mit.edu	37	1	152552401	152552401	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152552401C>G	uc021oza.1	-	0	12	c.12G>C	c.(10-12)caG>caC	p.Q4H	LCE3D_uc001fab.3_Missense_Mutation_p.Q4H	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	4					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)		GCTGGTTCTGCTGGCAGGACA	0.547000														29			26		0	0	0.001271	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198580	170198580	+	Silent	SNP	C	T	T	rs145787666	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170198580C>T	uc003fgz.2	-	6	1807	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	497						integral to membrane	amino acid transmembrane transporter activity	p.G497G(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTCTGATTTCCCTATGAGCA	0.488000														100			79		0	0	0.003610	0	0
ZNF98	148198	broad.mit.edu	37	19	22585674	22585674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22585674G>A	uc002nqt.2	-	2	292	c.170C>T	c.(169-171)tCt>tTt	p.S57F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57Y(3)		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)				GTCTGGCTTAGAGGCAGCAAT	0.393000														41			33		0	0	0.004289	0	0
MYT1	4661	broad.mit.edu	37	20	62843415	62843415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62843415G>A	uc002yii.3	+	8	1805	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	MYT1_uc002yih.3_Missense_Mutation_p.E183K|MYT1_uc002yij.3_Missense_Mutation_p.E113K	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	481					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCCATGCATGAGAACGTGCT	0.607000														59			98		0	0	0.003610	0	0
ENGASE	64772	broad.mit.edu	37	17	77079621	77079621	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:77079621C>T	uc002jwv.3	+	8	1208	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	ENGASE_uc002jww.3_Silent_p.F106F	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	400						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTTGCCTTTCGTCACGTCCT	0.627000														7			25		0	0	0.001061	0	0
IBSP	3381	broad.mit.edu	37	4	88732595	88732595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:88732595G>A	uc003hqx.4	+	6	585	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	163	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.E163K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		aaatgaaaacgaagaaagcga	0.453000														8			4		0	0	0.000248	0	0
BAI3	577	broad.mit.edu	37	6	69728382	69728382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:69728382G>A	uc010kak.3	+	11	2374	c.2098G>A	c.(2098-2100)Gga>Aga	p.G700R	BAI3_uc003pev.4_Missense_Mutation_p.G700R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	700					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G700R(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTAATGACTGGAAATGTAGG	0.318000														34			31		0	0	0.003271	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350237	51350237	+	Silent	SNP	G	A	A	rs138297422	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:51350237G>A	uc001zyy.3	-	2	820	c.720C>T	c.(718-720)caC>caT	p.H240H		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	240										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGGGCGTCAGGTGCCGCTGCA	0.547000														22			15		0	0	0.003163	0	0
DRD5	1816	broad.mit.edu	37	4	9785024	9785024	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:9785024G>A	uc003gmb.4	+	0	1767	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	457					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCTGGGAGCTGGACTGCGAGG	0.502000														31			26		0	0	0.001786	0	0
MMP3	4314	broad.mit.edu	37	11	102713201	102713201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:102713201C>T	uc001phj.1	-	2	525	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	154					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GCCTCTCCTTCATACAGCCTG	0.348000														57			37		0	0	0.002222	0	0
SMA	0	broad.mit.edu	37	5	68902950	68902950	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:68902950G>A	uc010ixi.1	+	0		c.25G>A								Homo sapiens cDNA, FLJ18088.																		TCCTACTAAAGGACGGACAGA	0.398000														70			28		0	0	0.003610	0	0
TECPR1	25851	broad.mit.edu	37	7	97860614	97860614	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:97860614G>A	uc003upg.3	-	13	2251	c.2046C>T	c.(2044-2046)gcC>gcT	p.A682A	TECPR1_uc003uph.1_Silent_p.A612A	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	682	PH.					integral to membrane	protein binding	p.A682D(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGTGTACAGGGCAAAGGAGT	0.622000														14			5		0	0	0.001984	0	0
TRPV4	59341	broad.mit.edu	37	12	110234354	110234354	+	Silent	SNP	G	A	A	rs141244183	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:110234354G>A	uc001tpj.2	-	5	1403	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	TRPV4_uc001tpg.2_Silent_p.I402I|TRPV4_uc021rdp.1_Intron|TRPV4_uc001tph.2_Silent_p.I389I|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Silent_p.I436I	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	436					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTACACCAGGATCTCCAGCA	0.627000														19			10		0	0	0.000978	0	0
CHD2	1106	broad.mit.edu	37	15	93567810	93567810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:93567810C>T	uc002bsp.3	+	38	5937	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C		NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1788					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCAGATCCTCGCTCACCCCC	0.502000														23			17		0	0	0.000958	0	0
KEL	3792	broad.mit.edu	37	7	142649701	142649701	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142649701G>A	uc003wcb.3	-	9	1308	c.1098C>T	c.(1096-1098)atC>atT	p.I366I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	366					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGCCCTAAGATCATGTGGC	0.527000														14			36		0	0	0.001706	0	0
DNAH2	146754	broad.mit.edu	37	17	7689617	7689617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7689617C>T	uc002giu.1	+	38	6319	c.6305C>T	c.(6304-6306)tCc>tTc	p.S2102F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2102	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCTCCCTGTCCTCTCTGTGC	0.562000														9			33		0	0	0.003271	0	0
DCN	1634	broad.mit.edu	37	12	91558384	91558384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91558384G>A	uc001tbt.3	-	2	576	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Missense_Mutation_p.H108Y|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.H108Y	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	108					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTCTTACGTGAAGGTTCTTC	0.368000														27			14		0	0	0.001855	0	0
ZNF423	23090	broad.mit.edu	37	16	49669584	49669584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:49669584G>A	uc002efs.3	-	4	3777	c.3479C>T	c.(3478-3480)tCg>tTg	p.S1160L	ZNF423_uc010vgn.2_Missense_Mutation_p.S1043L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1160					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)				GGGCACTGGCGATGTCTGGGT	0.642000														38			21		0	0	0.001523	0	0
IQSEC3	440073	broad.mit.edu	37	12	278180	278180	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:278180G>A	uc001qhw.2	+	12	2972	c.2972_splice	c.e12-1	p.W991_splice	IQSEC3_uc001qhu.1_Splice_Site_p.W688_splice	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	991					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ATTCCTTAGGGGAGCTGGAGA	0.587000														34			33		0	0	0.004878	0	0
REPS2	9185	broad.mit.edu	37	X	17153431	17153431	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:17153431C>T	uc004cxv.1	+	15	1881	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	REPS2_uc004cxw.1_Silent_p.F569F|REPS2_uc011miw.1_Silent_p.F368F	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	570	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTAGGAAATTCAGACCAGAAA	0.418000														13			69		0	0	0.003610	0	0
MST4	51765	broad.mit.edu	37	X	131206371	131206371	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:131206371G>A	uc004ewk.1	+	8	1309	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	MST4_uc004ewl.1_Silent_p.K259K|MST4_uc011mux.1_Silent_p.K358K|MST4_uc010nrj.1_Silent_p.K336K|MST4_uc004ewm.1_Silent_p.K274K	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	336					cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.P335S(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGATCCAAAGAAAGTACAGA	0.393000														2			11		0	0	0.000978	0	0
RFX6	222546	broad.mit.edu	37	6	117244329	117244329	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117244329G>A	uc003pxm.3	+	13	1560	c.1497G>A	c.(1495-1497)tgG>tgA	p.W499*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	499					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTTAAAGTGGAGTTTTTTTG	0.338000														45			39		0	0	0.001485	0	0
PTH1R	5745	broad.mit.edu	37	3	46944924	46944924	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46944924C>T	uc003cqm.3	+	15	1763	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	PTH1R_uc021wxg.1_Silent_p.P520P	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	520						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCCTCAGCCCCCGCCTACTGC	0.682000														18			13		0	0	0.001855	0	0
NCOA3	8202	broad.mit.edu	37	20	46281231	46281232	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:46281231_46281232CC>TT	uc002xtk.3	+	20	4289_4290	c.4028_4029CC>TT	c.(4027-4029)tcc>tTT	p.S1343F	NCOA3_uc002xtl.3_Missense_Mutation_p.S1339F|NCOA3_uc002xtn.3_Missense_Mutation_p.S1342F|NCOA3_uc010ght.2_Missense_Mutation_p.S1334F|NCOA3_uc002xtm.3_Missense_Mutation_p.S1338F|NCOA3_uc010zyc.2_Missense_Mutation_p.S1138F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1343					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						ATGGGTCCCTCCCAGAATCCCA	0.480000														47			13		0	0	0.004672	0	0
ATP1A1	476	broad.mit.edu	37	1	116932243	116932243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:116932243C>T	uc001ege.3	+	7	1276	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	ATP1A1_uc010owv.1_Missense_Mutation_p.L282F|ATP1A1_uc010oww.2_Missense_Mutation_p.L313F|ATP1A1_uc010owx.2_Missense_Mutation_p.L282F	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	313					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTCTCTCATCCTTGAGTACAC	0.512000														26			30		0	0	0.001271	0	0
ZNF470	388566	broad.mit.edu	37	19	57088184	57088184	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57088184C>T	uc002qnl.4	+	5	1063	c.387C>T	c.(385-387)gaC>gaT	p.D129D	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGCTATGACCTTGAATGTT	0.383000														45			31		0	0	0.001512	0	0
MUC17	140453	broad.mit.edu	37	7	100679542	100679542	+	Silent	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100679542C>A	uc003uxp.1	+	2	4898	c.4845C>A	c.(4843-4845)acC>acA	p.T1615T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1615	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)					CATCTACAACCGCTGAAGGTA	0.502000														242			12		0.00010058	0.000210122	0.001368	1	0
TLR10	81793	broad.mit.edu	37	4	38774959	38774959	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:38774959T>A	uc003gtj.3	-	3	2891	c.2253A>T	c.(2251-2253)aaA>aaT	p.K751N	TLR10_uc021xnk.1_Missense_Mutation_p.K737N|TLR10_uc003gti.3_Missense_Mutation_p.K751N|TLR10_uc021xnl.1_Missense_Mutation_p.K751N|TLR10_uc003gtk.3_Missense_Mutation_p.K751N|TLR10_uc021xnm.1_Missense_Mutation_p.K751N	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	751	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGTATGCTTTTTTTTCCAGGA	0.393000														33			32		0	0	0.003271	0	0
GSDMC	56169	broad.mit.edu	37	8	130789712	130789712	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:130789712T>C	uc003ysr.3	-	1	1004	c.122A>G	c.(121-123)aAg>aGg	p.K41R		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	41						mitochondrion		p.K41N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATCCTTCTTCTTTCGTAATAT	0.393000														87			27		0	0	0.003954	0	0
NTRK3	4916	broad.mit.edu	37	15	88678470	88678470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:88678470C>T	uc002bme.2	-	9	1372	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	NTRK3_uc002bmh.2_Missense_Mutation_p.G356R|NTRK3_uc002bmf.2_Missense_Mutation_p.G356R|NTRK3_uc021sua.1_Missense_Mutation_p.G356R|NTRK3_uc010upl.1_Missense_Mutation_p.G258R|NTRK3_uc010bnh.1_Missense_Mutation_p.G356R|NTRK3_uc002bmg.3_Missense_Mutation_p.G356R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	356	Ig-like C2-type 2.				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)			GAAATCTCTCCCTCTTGGTAG	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				56			22		0	0	0.002299	0	0
NHSL2	340527	broad.mit.edu	37	X	71360221	71360221	+	Silent	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:71360221A>T	uc011mqa.2	+	5	2823	c.2823A>T	c.(2821-2823)tcA>tcT	p.S941S	NHSL2_uc004eak.1_Silent_p.S575S|NHSL2_uc010nli.2_Silent_p.S710S	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	941										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGGGGAGTCAACAGCACCCT	0.547000														1			13		0	0	0.001855	0	0
ACE	1636	broad.mit.edu	37	17	61566318	61566318	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:61566318G>A	uc002jau.2	+	16	2500	c.2466G>A	c.(2464-2466)ggG>ggA	p.G822G	ACE_uc010wpj.2_Silent_p.G248G|ACE_uc010ddv.2_Silent_p.G49G|ACE_uc002jav.2_Silent_p.G248G|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	822	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TAGATGCAGGGGACTCGTGGA	0.572000														6			35		0	0	0.004878	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169400	90169400	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:90169400T>C	uc003hsm.1	-	1	2381	c.1862A>G	c.(1861-1863)aAg>aGg	p.K621R	GPRIN3_uc021xqb.1_Missense_Mutation_p.K621R	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	621										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGGGTCTTCTTGCCAGAACC	0.572000														65			39		0	0	0.002522	0	0
CLCA4	22802	broad.mit.edu	37	1	87040296	87040296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87040296G>A	uc009wcs.3	+	9	1585	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	CLCA4_uc009wct.3_Missense_Mutation_p.G277E|CLCA4_uc009wcu.3_Missense_Mutation_p.G334E	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	514						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)		AGTACAGTGGGAAAGGACACG	0.393000														36			43		0	0	0.002852	0	0
MUC16	94025	broad.mit.edu	37	19	9072284	9072284	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9072284C>T	uc002mkp.3	-	2	15366	c.15162G>A	c.(15160-15162)ctG>ctA	p.L5054L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5056	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						TAGAAGAAATCAGGGAAGGTG	0.478000														42			40		0	0	0.004878	0	0
LRRC7	57554	broad.mit.edu	37	1	70504756	70504756	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:70504756A>T	uc001dep.3	+	18	3165	c.3135A>T	c.(3133-3135)gaA>gaT	p.E1045D	LRRC7_uc009wbg.3_Missense_Mutation_p.E329D|LRRC7_uc001deq.3_Missense_Mutation_p.E286D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1045						centrosome|focal adhesion|nucleolus	protein binding	p.A1044P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGAAAGCCGAAAAGAGGATAC	0.438000														26			14		0	0	0.004007	0	0
STX6	10228	broad.mit.edu	37	1	180962549	180962549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:180962549G>A	uc021pfr.1	-	3	550	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	STX6_uc010pnr.2_Nonsense_Mutation_p.Q4*	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	105					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GTTGACATCTGATCTTTCATG	0.308000														52			49		0	0	0.003610	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591171	55591171	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55591171G>A	uc002qis.4	+	4	335	c.231G>A	c.(229-231)ctG>ctA	p.L77L	EPS8L1_uc010ess.1_Silent_p.L59L|EPS8L1_uc010est.1_Silent_p.L77L|EPS8L1_uc010yfr.2_Silent_p.L13L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank|EPS8L1_uc002qiv.3_5'Flank|EPS8L1_uc002qiw.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	77						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGGAGATGCTGCTGCGAGTGT	0.662000														15			12		0	0	0.001368	0	0
SLIT3	6586	broad.mit.edu	37	5	168111062	168111062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168111062C>T	uc010jjg.3	-	31	4036	c.3616G>A	c.(3616-3618)Gga>Aga	p.G1206R	SLIT3_uc003mab.3_Missense_Mutation_p.G1199R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1199	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.G1199*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTCTCCTTTGTAGAGA	0.587000														10			28		0	0	0.001786	0	0
PREX1	57580	broad.mit.edu	37	20	47273669	47273669	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:47273669G>A	uc002xtw.1	-	17	2055	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	678	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AACGGCCGCAGGAACACCAGG	0.607000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			12		0	0	0.001855	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751401	26751401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:26751401C>T	uc003cdp.3	+	1	827	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	LRRC3B_uc003cdq.3_Missense_Mutation_p.P80S|LRRC3B_uc021wuj.1_Missense_Mutation_p.P80S	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	80						integral to membrane		p.P80P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CACATCTATTCCCAATGAAAT	0.403000														22			21		0	0	0.002299	0	0
ITGB2	3689	broad.mit.edu	37	21	46310002	46310002	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46310002C>T	uc002zgd.2	-	10	1592	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	ITGB2_uc002zgf.3_Silent_p.Q516Q|ITGB2_uc011afl.1_Silent_p.Q438Q|ITGB2_uc010gpw.2_Silent_p.Q459Q|ITGB2_uc002zgg.2_Silent_p.Q516Q	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	516	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.G515G(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCACAGGCACTGCCCGCAGA	0.627000														16			5		0	0	0.000602	0	0
COL9A1	1297	broad.mit.edu	37	6	70964860	70964860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:70964860C>T	uc003pfg.4	-	22	1763	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	COL9A1_uc003pfe.4_Missense_Mutation_p.G108E|COL9A1_uc003pff.4_Missense_Mutation_p.G292E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	535	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TACCGTGTCTCCTTTGGGCCC	0.423000														80			65		0	0	0.003610	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659852	74659852	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:74659852C>T	uc002axt.2	-	0	230	c.75G>A	c.(73-75)gaG>gaA	p.E25E	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.E25E	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	25					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCCCCAGCCCCTCCCTGGGGG	0.642000														21			13		0	0	0.002450	0	0
BDP1	55814	broad.mit.edu	37	5	70766290	70766290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:70766290C>T	uc003kbp.1	+	6	1251	c.988C>T	c.(988-990)Cct>Tct	p.P330S	BDP1_uc003kbn.1_Missense_Mutation_p.P330S|BDP1_uc003kbo.3_Missense_Mutation_p.P330S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	330	Myb-like.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAACTTTTTCCTCACAGAGC	0.318000														7			23		0	0	0.005443	0	0
CAMKV	79012	broad.mit.edu	37	3	49898695	49898695	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49898695C>T	uc003cxt.1	-	5	673	c.480G>A	c.(478-480)tcG>tcA	p.S160S	CAMKV_uc011bcy.1_Silent_p.S85S|CAMKV_uc003cxv.1_Silent_p.S160S|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.S160S|CAMKV_uc011bcz.1_Silent_p.S123S|CAMKV_uc011bda.1_Silent_p.S117S|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	160	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACAATCTTCGAGTTCTTCA	0.542000														24			11		0	0	0.001368	0	0
C16orf59	80178	broad.mit.edu	37	16	2514539	2514539	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2514539T>G	uc002cqh.3	+	9	1203	c.1172T>G	c.(1171-1173)cTc>cGc	p.L391R	C16orf59_uc002cqg.2_3'UTR|C16orf59_uc002cqi.3_Missense_Mutation_p.L224R|C16orf59_uc010uwb.2_3'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	391										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATGGCTGAACTCCTCCCCCTG	0.706000														11			12		0	0	0.001855	0	0
OR8B2	26595	broad.mit.edu	37	11	124253219	124253220	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124253219_124253220GG>AA	uc010sai.2	-	0	20_21	c.20_21CC>TT	c.(19-21)tcc>tTT	p.S7F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N6S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGTCACTAAGGAGTTGTTTCT	0.356000														58			18		0	0	0.004672	0	0
EXOC4	60412	broad.mit.edu	37	7	133689691	133689691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:133689691C>T	uc003vrk.3	+	15	2410	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	EXOC4_uc011kpo.2_Missense_Mutation_p.P691L|EXOC4_uc003vrl.3_Missense_Mutation_p.P402L|EXOC4_uc011kpp.2_Missense_Mutation_p.P324L|EXOC4_uc011kpq.2_Missense_Mutation_p.P80L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	792					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TATCTTATCCCTCTTGCAAAG	0.453000														37			65		0	0	0.003610	0	0
C14orf133	63894	broad.mit.edu	37	14	77908908	77908908	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77908908G>A	uc001xtt.2	-	10	1146	c.729C>T	c.(727-729)ctC>ctT	p.L243L	C14orf133_uc001xtu.2_Silent_p.L243L|C14orf133_uc001xtv.2_Silent_p.L243L|C14orf133_uc021rwu.1_Silent_p.L243L|C14orf133_uc010tvj.2_Silent_p.L194L	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	243					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTTACCTGAAGAGGTCTAAAA	0.433000														36			114		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92565151	92565151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92565151G>A	uc001pdj.4	+	12	9862	c.9845G>A	c.(9844-9846)gGg>gAg	p.G3282E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3282	Cadherin 30.				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)				AACGAACAAGGGAAATTTAAG	0.483000										TCGA Ovarian(4;0.039)				54			26		0	0	0.005443	0	0
SAP30	8819	broad.mit.edu	37	4	174292510	174292510	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:174292510C>T	uc003itd.3	+	0	418	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_003864	NP_003855	O75446	SAP30_HUMAN	Homo sapiens Sin3A-associated protein, 30kDa (SAP30), mRNA.	59	Ala-rich.|Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		cgggggcggcCGGGCCGGGCC	0.796000														4			5		0	0	0.000602	0	0
COL15A1	1306	broad.mit.edu	37	9	101797356	101797356	+	Missense_Mutation	SNP	C	T	T	rs142089094	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:101797356C>T	uc004azb.1	+	17	2346	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	714	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P714S(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCTGGCCCTCCTGGGGTCAT	0.612000														5			41		0	0	0.001287	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808301	48808301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:48808301C>T	uc002rwp.2	+	1	643	c.529C>T	c.(529-531)Cga>Tga	p.R177*	STON1-GTF2A1L_uc021vhf.1_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_uc002rwo.4_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_uc010fbm.3_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_uc010yol.2_Nonsense_Mutation_p.R177*	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	177					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTATTTTCGAGAGGACTG	0.438000														47			19		0	0	0.001216	0	0
OR52K1	390036	broad.mit.edu	37	11	4510453	4510453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4510453C>T	uc001lza.2	+	0	345	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCTTCACTCCTTCTCCATC	0.522000														23			17		0	0	0.004007	0	0
LRIF1	55791	broad.mit.edu	37	1	111494466	111494466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:111494466G>A	uc001eaa.3	-	1	1296	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.R346Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATATTTTTGGATCGCGTCCC	0.353000														65			47		0	0	0.002852	0	0
LRP1B	53353	broad.mit.edu	37	2	141474303	141474303	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141474303G>A	uc002tvj.1	-	35	6813	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1947					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)		CATTGGTAATGATATCTTCTT	0.383000										TSP Lung(27;0.18)				56			48		0	0	0.003610	0	0
CHRM5	1133	broad.mit.edu	37	15	34356319	34356319	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:34356319C>T	uc001zhk.1	+	2	2071	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	CHRM5_uc001zhl.1_Silent_p.F467F|CHRM5_uc021sir.1_Silent_p.F467F	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	467					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTTCTACCTTCTGTGACAAGT	0.502000														36			22		0	0	0.002299	0	0
CRB1	23418	broad.mit.edu	37	1	197390497	197390497	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197390497G>A	uc001gtz.3	+	5	1748	c.1539G>A	c.(1537-1539)agG>agA	p.R513R	CRB1_uc010poz.2_Silent_p.R444R|CRB1_uc009wza.3_Silent_p.R401R|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.R513R|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Silent_p.R162R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	513	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAGCCCTCAGGTTTCAGACTG	0.473000														36			27		0	0	0.001271	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891226	18891226	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:18891226G>A	uc001rdy.3	+	0	182	c.24G>A	c.(22-24)agG>agA	p.R8R	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	8					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCTGAGCAGGAAGGACAAGG	0.433000														55			25		0	0	0.004656	0	0
SPESP1	246777	broad.mit.edu	37	15	69238249	69238249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:69238249C>T	uc002arn.2	+	1	530	c.376C>T	c.(376-378)Cca>Tca	p.P126S	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	126					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCGATCAAACCAAACAATGT	0.448000														13			17		0	0	0.004990	0	0
OR10C1	442194	broad.mit.edu	37	6	29408290	29408290	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29408290C>T	uc011dlp.2	+	0	575	c.498C>T	c.(496-498)ccC>ccT	p.P166P	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	166					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						TCTCTTTGCCCTTCTGCGGCC	0.592000														47			27		0	0	0.001786	0	0
OR51B6	390058	broad.mit.edu	37	11	5373349	5373349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5373349G>A	uc010qzb.2	+	0	612	c.612G>A	c.(610-612)atG>atA	p.M204I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTGCAATGGTCTTGTTGG	0.443000														48			32		0	0	0.003755	0	0
FKBP8	23770	broad.mit.edu	37	19	18652665	18652665	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18652665T>A	uc002njk.1	-	1	229	c.116A>T	c.(115-117)gAg>gTg	p.E39V	FKBP8_uc010xqi.1_Missense_Mutation_p.E68V|FKBP8_uc002njj.1_Missense_Mutation_p.E39V|FKBP8_uc021uqp.1_Missense_Mutation_p.E39V	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	39	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ttcctcctcctcttcctcctc	0.662000														9			5		0	0	0.001168	0	0
ATF4	468	broad.mit.edu	37	22	39918017	39918017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39918017C>T	uc003axz.3	+	2	746	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	ATF4_uc011aol.1_Missense_Mutation_p.P68S|ATF4_uc003aya.3_Missense_Mutation_p.P156S|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	156					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CCAGGTTGCCCCCTTCACCTT	0.532000														51			37		0	0	0.004878	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075259	226075259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:226075259G>A	uc001hpo.3	-	2	657	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	PYCR2_uc010pvj.2_Missense_Mutation_p.A301V|LEFTY1_uc009xej.2_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	193					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGCTGCCGGGGCCGGCTCAGC	0.687000														10			12		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9058186	9058186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9058186G>A	uc002mkp.3	-	2	29464	c.29260C>T	c.(29260-29262)Cct>Tct	p.P9754S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9756	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGGAAGAGGAGAGGAGGGG	0.468000														24			12		0	0	0.001368	0	0
C6	729	broad.mit.edu	37	5	41203209	41203209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41203209C>T	uc003jmk.2	-	1	334	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C6_uc003jml.1_Missense_Mutation_p.G42R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	42	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G42E(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCTGGGTTCCAGAATTGCAA	0.493000														147			84		0	0	0.003610	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956288	5956288	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:5956288G>A	uc002kmz.4	-	19	1963	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	L3MBTL4_uc002kmy.4_Silent_p.I592I|L3MBTL4_uc010dkt.3_Silent_p.I601I	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	601	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGAACATCAGGATAGAGTTGT	0.498000														76			99		0	0	0.003610	0	0
LY9	4063	broad.mit.edu	37	1	160784216	160784216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160784216G>A	uc001fwu.3	+	3	787	c.737G>A	c.(736-738)gGa>gAa	p.G246E	LY9_uc010pjs.1_Missense_Mutation_p.G246E|LY9_uc001fwv.3_Missense_Mutation_p.G246E|LY9_uc001fww.3_Missense_Mutation_p.G246E|LY9_uc001fwy.1_Missense_Mutation_p.G148E|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	246					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGATCCAGGAGCCTCCAGA	0.612000														58			18		0	0	0.001523	0	0
EPPK1	83481	broad.mit.edu	37	8	144943558	144943558	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144943558G>A	uc003zaa.1	-	0	3877	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1288						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCAACAAGGAAGCCAGATG	0.667000														30			32		0	0	0.002836	0	0
ZNF215	7762	broad.mit.edu	37	11	6953620	6953620	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6953620G>A	uc001mey.3	+	2	705	c.117G>A	c.(115-117)gtG>gtA	p.V39V	ZNF215_uc010raw.2_Silent_p.V39V|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Silent_p.V39V	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	39					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACCCCGTCGTGGAGACACATG	0.493000														63			33		0	0	0.001706	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036380	71036380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:71036380G>A	uc003tvy.3	+	5	1073	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	WBSCR17_uc003tvz.3_Missense_Mutation_p.G57E	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	358	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATTGAACTGGGAATCAAGGTT	0.478000														39			30		0	0	0.003271	0	0
SCN3A	6328	broad.mit.edu	37	2	165986541	165986541	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165986541C>T	uc002ucx.3	-	16	3323	c.2831G>A	c.(2830-2832)tGg>tAg	p.W944*	SCN3A_uc002ucy.3_Nonsense_Mutation_p.W895*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.W895*|SCN3A_uc002uda.1_Nonsense_Mutation_p.W764*|SCN3A_uc002udb.1_Nonsense_Mutation_p.W764*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	944						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)	GGTCTCTATCCACTCTCCACA	0.493000														68			49		0	0	0.003610	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423303	107423303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107423303C>T	uc003ver.2	-	10	1461	c.1250G>A	c.(1249-1251)gGt>gAt	p.G417D	SLC26A3_uc003ves.2_Missense_Mutation_p.G382D	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	417					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATGATGGCACCAATAAGCCC	0.428000														32			45		0	0	0.003214	0	0
PTPRB	5787	broad.mit.edu	37	12	70988418	70988418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70988418G>A	uc001swb.4	-	3	721	c.691C>T	c.(691-693)Cga>Tga	p.R231*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R231*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R231*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R449*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R449*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R448*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R328*|PTPRB_uc001swe.3_Nonsense_Mutation_p.R449*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	231	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCGGTATCGTTCCACATTC	0.468000														31			16		0	0	0.004990	0	0
TP63	8626	broad.mit.edu	37	3	189455644	189455644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:189455644G>A	uc003fry.2	+	1	267	c.178G>A	c.(178-180)Gat>Aat	p.D60N	TP63_uc003frx.2_Missense_Mutation_p.D60N|TP63_uc003frz.2_Missense_Mutation_p.D60N|TP63_uc010hzc.1_Missense_Mutation_p.D60N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	60	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCATATCTGGGATTTTCTGGA	0.388000										HNSCC(45;0.13)				25			17		0	0	0.001523	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805857	169805857	+	Missense_Mutation	SNP	C	T	T	rs148835131	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:169805857C>T	uc003maq.1	-	3	827	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNIP1_uc003map.3_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	143					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ACGCTGGTTTCGTTCCCCCGA	0.617000														4			14		0	0	0.002450	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586370	15586370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15586370C>T	uc002nbg.3	-	1	1244	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	PGLYRP2_uc002nbf.4_Missense_Mutation_p.E371K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	371					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.K370K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCAGTGAATTCCTTGGTAGCA	0.562000														93			62		0	0	0.003610	0	0
ACSS3	79611	broad.mit.edu	37	12	81647092	81647092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81647092C>T	uc001szl.1	+	13	1817	c.1726C>T	c.(1726-1728)Ctt>Ttt	p.L576F	ACSS3_uc001szm.1_Missense_Mutation_p.L575F|ACSS3_uc001szn.1_Missense_Mutation_p.L258F	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	576						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACAGTCAATCCTTTCCCATGG	0.363000														128			93		0	0	0.003610	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457071	42457071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42457071G>A	uc002igt.1	-	17	1896	c.1864C>T	c.(1864-1866)Cat>Tat	p.H622Y	ITGA2B_uc002igu.1_Missense_Mutation_p.H103Y	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	622					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)	TCCTGCACATGGGTGTCTCCA	0.592000														22			101		0	0	0.003610	0	0
LRP6	4040	broad.mit.edu	37	12	12288111	12288112	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12288111_12288112CC>AA	uc001rah.4	-	16	3872_3873	c.3730_3731GG>TT	c.(3730-3732)gga>TTa	p.G1244L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G1244L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1244	EGF-like 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATATTTACCTCCACATGATAGC	0.401000														272			11		0	0	0.004672	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:88854820G>A	uc010kbz.3	-	1	304	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CNR1_uc011dzr.2_Silent_p.F58F|CNR1_uc011dzs.2_Silent_p.F58F|CNR1_uc003pmq.4_Silent_p.F58F|CNR1_uc011dzt.2_Silent_p.F58F|CNR1_uc010kca.3_Silent_p.F25F|CNR1_uc021zco.1_Silent_p.F58F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	58					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			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)	TCTTCTCTTGGAAGGGACTTC	0.458000														18			12		0	0	0.001368	0	0
LILRA1	11024	broad.mit.edu	37	19	55107356	55107356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55107356C>T	uc002qgh.1	+	5	1096	c.914C>T	c.(913-915)tCc>tTc	p.S305F	LILRA1_uc010yfg.1_Missense_Mutation_p.S303F|LILRA1_uc010yfh.2_Missense_Mutation_p.S305F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	305	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AACCTCTCCTCCGAGTGGTCG	0.682000														30			23		0	0	0.004656	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175046766C>T	uc001gkl.1	+	1	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNN_uc010pmx.1_Missense_Mutation_p.S71L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587000														11			22		0	0	0.003954	0	0
MYCT1	80177	broad.mit.edu	37	6	153043113	153043113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:153043113C>T	uc003qpc.4	+	1	441	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	145						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCTCACCTTCCAGCGACAAGC	0.493000														67			28		0	0	0.002836	0	0
SAP130	79595	broad.mit.edu	37	2	128747391	128747391	+	Silent	SNP	C	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128747391C>G	uc010fmd.2	-	12	1737	c.1605G>C	c.(1603-1605)ggG>ggC	p.G535G	SAP130_uc002tpn.2_Silent_p.G296G|SAP130_uc002tpp.2_Silent_p.G535G|SAP130_uc002tpq.1_Silent_p.G508G	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	535					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TAGACGCTACCCCAACACCAG	0.488000														21			14		0	0	0.002450	0	0
PLXNA4	91584	broad.mit.edu	37	7	131833406	131833406	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:131833406C>T	uc003vra.4	-	26	4890	c.4661_splice	c.e26-1	p.E1554_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1554						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCGCCACTCTGCCAAAAGA	0.537000														19			34		0	0	0.005524	0	0
NTN4	59277	broad.mit.edu	37	12	96063853	96063854	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:96063853_96063854CC>TT	uc001tei.3	-	8	2028	c.1579_splice	c.e8+1	p.V527_splice	NTN4_uc009ztf.3_Intron|NTN4_uc009ztg.3_Splice_Site_p.V490_splice	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	527	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCAGACTCACCATATGAATAT	0.347000														24			7		0	0	0.004672	0	0
ANP32A	8125	broad.mit.edu	37	15	69076829	69076829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:69076829G>A	uc002arl.3	-	3	604	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_006305	NP_006296	P39687	AN32A_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA.	145	LRRCT.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TAGCCGTCGAGATATGTGAGT	0.537000														29			17		0	0	0.004990	0	0
SCN10A	6336	broad.mit.edu	37	3	38738959	38738959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38738959G>A	uc003ciq.3	-	26	5752	c.5752C>T	c.(5752-5754)Cca>Tca	p.P1918S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1918					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)	TAGGACGGTGGGAATGATGTG	0.448000														75			35		0	0	0.002222	0	0
PAPPA	5069	broad.mit.edu	37	9	118950101	118950101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:118950101G>A	uc004bjn.3	+	1	1465	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	PAPPA_uc011lxp.1_Missense_Mutation_p.E155K|PAPPA_uc011lxq.2_Missense_Mutation_p.E155K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	362	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAACCTCTATGAAGATGATCA	0.542000														6			21		0	0	0.001882	0	0
C9orf64	84267	broad.mit.edu	37	9	86554574	86554574	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:86554574A>G	uc004anb.3	-	3	1126	c.878T>C	c.(877-879)cTt>cCt	p.L293P	C9orf64_uc004anc.3_Missense_Mutation_p.L152P	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	293										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAGCTCCAGAAGACAATCCCG	0.453000														8			64		0	0	0.003610	0	0
CD244	51744	broad.mit.edu	37	1	160811109	160811109	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160811109C>T	uc009wtq.3	-	2	786	c.561G>A	c.(559-561)gaG>gaA	p.E187E	CD244_uc001fxa.3_Silent_p.E182E|CD244_uc009wtr.3_Intron|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	187	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGTCAACCTCCTCGTCCAGGT	0.512000														65			73		0	0	0.003610	0	0
MICAL2	9645	broad.mit.edu	37	11	12245040	12245040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:12245040C>T	uc001mjz.3	+	11	1820	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	MICAL2_uc010rch.1_Missense_Mutation_p.S511F|MICAL2_uc001mka.3_Missense_Mutation_p.S511F|MICAL2_uc010rci.2_Missense_Mutation_p.S511F|MICAL2_uc001mkb.3_Missense_Mutation_p.S511F|MICAL2_uc001mkc.3_Missense_Mutation_p.S511F|MICAL2_uc001mkd.3_Missense_Mutation_p.S340F|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	511						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCAACCTCTCCAGGAAGGGT	0.572000														47			33		0	0	0.003755	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389963	150389963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150389963G>A	uc003who.3	+	2	677	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	197						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAAGTGAAGGAACTAATGGA	0.453000														44			21		0	0	0.005443	0	0
IL17F	112744	broad.mit.edu	37	6	52103713	52103713	+	Silent	SNP	G	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:52103713G>T	uc003pam.1	-	1	140	c.69C>A	c.(67-69)gcC>gcA	p.A23A	IL17F_uc003pal.1_5'UTR	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	23					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					CACTCAGAAAGGCAAGCCCCA	0.502000														39			36		3.43241e-23	7.23649e-23	0.002222	1	0
KIF13A	63971	broad.mit.edu	37	6	17855830	17855830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:17855830G>A	uc003ncg.4	-	5	492	c.332C>T	c.(331-333)tCc>tTc	p.S111F	KIF13A_uc003ncf.3_Missense_Mutation_p.S111F|KIF13A_uc003nch.4_Missense_Mutation_p.S111F|KIF13A_uc003nci.4_Missense_Mutation_p.S111F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	111	Kinesin-motor.				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCCCATCATGGAAAAGGATTT	0.443000														20			11		0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13914692	13914692	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13914692G>A	uc003jfd.2	-	9	1299	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	419	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)					GGTTCCAGATGGAAGCGGTTC	0.343000									Kartagener syndrome					53			33		0	0	0.002445	0	0
HIF3A	64344	broad.mit.edu	37	19	46832684	46832684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46832684C>T	uc002peh.3	+	11	1692	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	HIF3A_uc002peg.4_Missense_Mutation_p.P554L|HIF3A_uc021uwf.1_Missense_Mutation_p.P498L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.P485L|HIF3A_uc002pel.3_Missense_Mutation_p.P552L|HIF3A_uc010xxz.2_Missense_Mutation_p.P503L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	554	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCTCCAGCCCTTCCAGAGGG	0.677000														8			6		0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	34276439	34276439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34276439C>T	uc001bxm.1	-	9	1528	c.1351G>A	c.(1351-1353)Ggc>Agc	p.G451S	CSMD2_uc001bxn.1_Missense_Mutation_p.G411S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	411	CUB 3.					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)				CCCGAGGGGCCTCGAAGGTGG	0.537000														61			40		0	0	0.002852	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167376	140167376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140167376G>A	uc003lhb.2	+	0	1501	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E501K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E501K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGTGGGCGAGCGCGCGCT	0.677000														5			21		0	0	0.001882	0	0
GABRR1	2569	broad.mit.edu	37	6	89926975	89926975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:89926975C>T	uc003pna.2	-	0	522	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	GABRR1_uc011dzv.1_Missense_Mutation_p.E17K|GABRR1_uc011dzw.1_Non-coding_Transcript	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	23					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCTGCTTTCAGTGGCCAAA	0.463000														21			15		0	0	0.001216	0	0
SCARF2	91179	broad.mit.edu	37	22	20783619	20783619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:20783619G>A	uc002zsj.2	-	8	1553	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	SCARF2_uc002zsk.2_Missense_Mutation_p.S478L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	478					cell adhesion	integral to membrane	protein binding|receptor activity	p.S483L(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTCCCAAGCGAAAGCTCCCT	0.697000														7			4		0	0	0.000248	0	0
ZMYM1	79830	broad.mit.edu	37	1	35577700	35577700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:35577700C>T	uc001bym.3	+	8	1261	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	ZMYM1_uc001byn.3_Missense_Mutation_p.S372L|ZMYM1_uc010ohu.2_Missense_Mutation_p.S353L|ZMYM1_uc001byo.3_Missense_Mutation_p.S12L|ZMYM1_uc009vut.3_Missense_Mutation_p.S297L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	372						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTTTCTTCAGTAACAGCA	0.269000														60			34		0	0	0.003610	0	0
TAT	6898	broad.mit.edu	37	16	71604186	71604186	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:71604186G>C	uc002fap.2	-	8	1126	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	343					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGGAAGCTCAGAGTGTTGTGG	0.527000														25			18		0	0	0.001523	0	0
EEF2K	29904	broad.mit.edu	37	16	22269973	22269973	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:22269973C>T	uc002dki.3	+	9	1673	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	396					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.S396F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCTTCTTCCCCATCTTCGG	0.607000														25			19		0	0	0.001882	0	0
EXD3	54932	broad.mit.edu	37	9	140242631	140242631	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:140242631G>A	uc004cmp.2	-	16	2086	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	630					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						ACACCACACGGAAGGCCCTGG	0.667000														6			14		0	0	0.004007	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407025	38407025	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38407025C>T	uc003jlc.2	+	7	1270	c.924C>T	c.(922-924)ctC>ctT	p.L308L	EGFLAM_uc003jlb.2_Silent_p.L308L|EGFLAM_uc003jle.2_Silent_p.L74L|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	308						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTCTAGGCTCATCCCCCCTA	0.478000														41			29		0	0	0.001512	0	0
XIRP2	129446	broad.mit.edu	37	2	168103905	168103905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168103905G>A	uc002udx.3	+	8	6092	c.6003G>A	c.(6001-6003)atG>atA	p.M2001I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M1826I|XIRP2_uc010fpq.3_Missense_Mutation_p.M1779I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1826					actin cytoskeleton organization	cell junction	actin binding	p.M2001I(2)		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						GTCAAACTATGGGGAAATCTT	0.453000														36			19		0	0	0.001882	0	0
XIRP2	129446	broad.mit.edu	37	2	168101389	168101389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168101389C>T	uc002udx.3	+	8	3576	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R988C|XIRP2_uc010fpq.3_Missense_Mutation_p.R941C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	988					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGGGATGTTCGTACAGCATG	0.403000														24			10		0	0	0.000978	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332311	100332311	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:100332311G>A	uc021sxl.1	-	1		c.842C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		AGGTCATGGAGAAGCTGGAGG	0.627000														53			26		0	0	0.004656	0	0
FCGBP	8857	broad.mit.edu	37	19	40363038	40363038	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:40363038A>G	uc002omp.4	-	31	15040	c.15032T>C	c.(15031-15033)tTc>tCc	p.F5011S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5011	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAGCCCCGAAGGTCTCCAC	0.647000														9			10		0	0	0.000673	0	0
ZXDC	79364	broad.mit.edu	37	3	126191064	126191064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:126191064G>A	uc003eiv.3	-	1	1046	c.992C>T	c.(991-993)tCc>tTc	p.S331F	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.S331F	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	331					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S331P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCAGGAAAGGAGCAGGAAAA	0.493000														26			28		0	0	0.001786	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543919	141543919	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141543919C>T	uc010ioj.3	-	20	3503	c.3231G>A	c.(3229-3231)gaG>gaA	p.E1077E		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1077						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGCTCCCGCCCTCCTTTGCAG	0.652000														14			10		0	0	0.000673	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885815	88885815	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:88885815A>T	uc003ydz.3	-	0	482	c.385T>A	c.(385-387)Tct>Act	p.S129T		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	129								p.S129Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCACATAGAATTCACCTTC	0.567000														38			40		0	0	0.005524	0	0
CREB5	9586	broad.mit.edu	37	7	28843904	28843904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:28843904C>T	uc003szq.3	+	7	1181	c.791C>T	c.(790-792)tCc>tTc	p.S264F	CREB5_uc003szo.3_Missense_Mutation_p.S231F|CREB5_uc003szr.3_Missense_Mutation_p.S257F|CREB5_uc003szs.3_Missense_Mutation_p.S125F	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	264					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGATGGGCTCCCGGCAGGAC	0.572000														156			112		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158650377	158650377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158650377G>A	uc001fst.1	-	4	873	c.674C>T	c.(673-675)gCc>gTc	p.A225V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	225					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	p.A225A(1)		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)					CCTCACCTCGGCACACTCATT	0.448000														122			53		0	0	0.003610	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506908	74506908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:74506908C>T	uc001dfy.4	-	6	1899	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	569										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAACTTTTTTCATTTCTTTAA	0.294000														43			18		0	0	0.000743	0	0
IL21	59067	broad.mit.edu	37	4	123534024	123534024	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:123534024G>A	uc003ies.2	-	3	465	c.420C>T	c.(418-420)ttC>ttT	p.F140F	IL21_uc010int.3_Silent_p.F140F	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	133					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GAAGTGATTTGAATCTTTCTA	0.313000														37			17		0	0	0.001216	0	0
LPA	4018	broad.mit.edu	37	6	161006189	161006189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:161006189C>T	uc003qtl.3	-	26	4298	c.4178G>A	c.(4177-4179)gGa>gAa	p.G1393E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3901	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACTCTGTCCATCACCTCG	0.463000														89			49		0	0	0.003610	0	0
EML5	161436	broad.mit.edu	37	14	89181462	89181462	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:89181462T>A	uc021ryf.1	-	8	1514	c.1265A>T	c.(1264-1266)tAc>tTc	p.Y422F	EML5_uc021ryg.1_Missense_Mutation_p.Y422F|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	422						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACAGCAAGGTAAGTTCCATC	0.368000														5			22		0	0	0.002780	0	0
IGFL3	388555	broad.mit.edu	37	19	46627529	46627529	+	Silent	SNP	A	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46627529A>G	uc002pea.1	-	1	100	c.75T>C	c.(73-75)acT>acC	p.T25T		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	25						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CCTTACCTGTAGTTCCTTTTG	0.453000														29			23		0	0	0.005443	0	0
NTM	50863	broad.mit.edu	37	11	132184491	132184491	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:132184491C>T	uc010sci.2	+	6	1159	c.828C>T	c.(826-828)ttC>ttT	p.F276F	NTM_uc001qgm.3_Silent_p.F276F|NTM_uc010sch.2_Silent_p.F267F|NTM_uc010scj.2_Silent_p.F235F|NTM_uc001qgo.3_Silent_p.F276F|NTM_uc001qgq.3_Silent_p.F276F|NTM_uc001qgp.3_Silent_p.F276F	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	276	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACAGACCTTTCCTCTCAAAAC	0.428000														32			29		0	0	0.002836	0	0
MS4A10	341116	broad.mit.edu	37	11	60558557	60558557	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60558557G>A	uc001npz.1	+	2	390	c.294G>A	c.(292-294)ggG>ggA	p.G98G		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	98						integral to membrane	receptor activity	p.G98G(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATTCTGGGGGGCTGCCTCTG	0.582000														30			23		0	0	0.001061	0	0
TUSC3	7991	broad.mit.edu	37	8	15508318	15508318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:15508318C>T	uc003wwt.3	+	2	765	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	TUSC3_uc003wwu.3_Nonsense_Mutation_p.Q141*	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	141					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGACGTTTTTCAGCAGGTAAA	0.358000														20			78		0	0	0.003610	0	0
MSLNL	401827	broad.mit.edu	37	16	820106	820106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:820106G>A	uc002cjz.1	-	14	2879	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L	MIR662_uc021tac.1_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	609					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGGTGCTGGGGGGCCCCCT	0.731000														6			4		0	0	0.000248	0	0
HHLA2	11148	broad.mit.edu	37	3	108072364	108072364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108072364C>T	uc003dwz.3	+	3	569	c.155C>T	c.(154-156)tCa>tTa	p.S52L	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.S52L|HHLA2_uc003dwy.4_Missense_Mutation_p.S52L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	52						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTCCCTTCTTCATTTGAGAGG	0.383000														8			8		0	0	0.004482	0	0
NOB1	28987	broad.mit.edu	37	16	69778779	69778779	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:69778779G>A	uc002exs.3	-	7	982	c.966C>T	c.(964-966)ctC>ctT	p.L322L		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	322						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CACTCACCCGGAGGCCGCGGG	0.577000														13			10		0	0	0.001368	0	0
COL11A2	1302	broad.mit.edu	37	6	33134870	33134870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33134870C>T	uc003ocx.1	-	57	4435	c.4207G>A	c.(4207-4209)Gat>Aat	p.D1403N	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.D1317N|COL11A2_uc003ocz.1_Missense_Mutation_p.D1296N	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1403	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCCAGCATCGCCCCGGAGA	0.612000														14			13		0	0	0.002450	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907220	164907220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164907220C>T	uc003fej.4	-	1	1843	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	SLITRK3_uc003fek.3_Missense_Mutation_p.D467N|SLITRK3_uc021xgy.1_Missense_Mutation_p.D467N	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	467						integral to membrane		p.N466N(1)		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						TTCTCTATATCGTTGCCATTA	0.468000										HNSCC(40;0.11)				21			18		0	0	0.000958	0	0
FNDC1	84624	broad.mit.edu	37	6	159687136	159687136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:159687136C>T	uc010kjv.3	+	20	5505	c.5305C>T	c.(5305-5307)Cca>Tca	p.P1769S		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1769						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TATCTGGATCCCATTCGCTTT	0.488000														17			15		0	0	0.000743	0	0
KCNN3	3782	broad.mit.edu	37	1	154680613	154680613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154680613C>T	uc021pah.1	-	8	2394	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	KCNN3_uc001ffo.3_Missense_Mutation_p.D374N|KCNN3_uc001ffp.3_Missense_Mutation_p.D679N	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.	684						integral to membrane	calmodulin binding	p.D679N(1)|p.D374N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGCAGGGTGTCGGCGATGAGC	0.637000														65			49		0	0	0.003610	0	0
PDE6C	5146	broad.mit.edu	37	10	95386417	95386417	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95386417C>T	uc001kiu.4	+	5	1098	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	320	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTATAAAATCATTGATTACA	0.333000														19			12		0	0	0.002450	0	0
TTC9	23508	broad.mit.edu	37	14	71137855	71137855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:71137855G>A	uc001xmi.2	+	2	995	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	218							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CTCCCAGAGAGAAAAAGAAGC	0.557000														5			11		0	0	0.001368	0	0
DOCK3	1795	broad.mit.edu	37	3	51349990	51349990	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51349990G>A	uc011bds.2	+	29	3200	c.3177G>A	c.(3175-3177)agG>agA	p.R1059R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1059						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGCCAAAAGGAAGAAGATTC	0.398000														39			21		0	0	0.002299	0	0
GLI1	2735	broad.mit.edu	37	12	57859013	57859013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57859013C>T	uc001snx.3	+	4	603	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GLI1_uc021qzi.1_Missense_Mutation_p.S129F|GLI1_uc009zpq.3_Missense_Mutation_p.S42F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	170					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.Q169E(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CATCCTCAGTCCCGGGGACCC	0.587000														10			9		0	0	0.004482	0	0
MYB	4602	broad.mit.edu	37	6	135518428	135518428	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:135518428C>T	uc003qfh.3	+	9	1732	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Silent_p.S508S|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Silent_p.S495S|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	458				I -> F (in Ref. 1; AAA52032).	blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.G510E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCAAGCGTTCCCCTGTCAAAA	0.488000			T	NFIB	adenoid cystic carcinoma									30			31		0	0	0.002836	0	0
WDR81	124997	broad.mit.edu	37	17	1631537	1631537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:1631537C>T	uc002ftj.2	+	0	3413	c.3284C>T	c.(3283-3285)cCc>cTc	p.P1095L	WDR81_uc002fth.2_Missense_Mutation_p.P44L|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACTGAGTCTCCCCAGCCCCAG	0.657000														6			40		0	0	0.001951	0	0
C11orf35	256329	broad.mit.edu	37	11	558870	558870	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:558870G>A	uc001lpx.3	-	1	207	c.144C>T	c.(142-144)tgC>tgT	p.C48C	AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	48										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCGGCAGAGCAGACCACCG	0.706000														22			10		0	0	0.001368	0	0
FAM120C	54954	broad.mit.edu	37	X	54161361	54161361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:54161361G>A	uc004dsz.4	-	6	1602	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	FAM120C_uc011moh.2_Missense_Mutation_p.P507S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	507										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGTAATTGGGAAACTGGGAT	0.512000														3			19		0	0	0.001523	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:46252598C>T	uc011bzc.1	-	9	1510	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	GABRA2_uc003gxc.3_Missense_Mutation_p.M361I|GABRA2_uc010igc.2_Missense_Mutation_p.M361I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					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)	TGTTCTGTATCATAACGGAAG	0.398000														46			35		0	0	0.004878	0	0
ABCA10	10349	broad.mit.edu	37	17	67210953	67210953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67210953G>A	uc010dfa.1	-	9	1777	c.898C>T	c.(898-900)Cct>Tct	p.P300S	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Missense_Mutation_p.P192S	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	300					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAGGGATCAGGAAAAATAACA	0.274000														20			86		0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47488716	47488716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:47488716C>T	uc002leb.2	-	11	1753	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	MYO5B_uc021ukb.1_Missense_Mutation_p.D488N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	489	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCATAAAAATCAATCAGGGTC	0.418000														30			16		0	0	0.004990	0	0
SORL1	6653	broad.mit.edu	37	11	121391533	121391533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121391533G>A	uc001pxx.3	+	8	1508	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	460					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTTCACGGGATATGGAGAG	0.413000														29			16		0	0	0.003163	0	0
TBC1D24	57465	broad.mit.edu	37	16	2548287	2548287	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2548287C>T	uc002cql.3	+	3	1172	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TBC1D24_uc002cqk.3_Silent_p.I338I|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	344					neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTCGGAGATCGTCAGCGTGA	0.637000														5			4		0	0	0.000602	0	0
DMBX1	127343	broad.mit.edu	37	1	46976938	46976938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:46976938G>A	uc001cpx.3	+	2	695	c.680G>A	c.(679-681)aGg>aAg	p.R227K	DMBX1_uc001cpw.3_Missense_Mutation_p.R222K	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	227				R -> K (in Ref. 2; BAC00920).	brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCTGCAAGAGGGGCAGCCCC	0.657000														6			5		0	0	0.001984	0	0
SYT9	143425	broad.mit.edu	37	11	7324533	7324533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7324533C>T	uc001mfe.3	+	1	646	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	137						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCTGACATTCCCCTCTCCAC	0.612000														7			9		0	0	0.001368	0	0
DPPA3	359787	broad.mit.edu	37	12	7867799	7867799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7867799G>A	uc001qtf.3	+	1	181	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	35						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AATCTCCTCCGAGACGTTGAT	0.458000														71			58		0	0	0.003610	0	0
ANXA1	301	broad.mit.edu	37	9	75775278	75775278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75775278C>T	uc004ajf.1	+	4	444	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	ANXA1_uc004ajg.1_Missense_Mutation_p.R124C	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	124					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.R124H(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGATGAACTTCGTGCTGCCAT	0.433000														15			98		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179565924G>A	uc021vsy.1	-	107	27098	c.26873C>T	c.(26872-26874)cCt>cTt	p.P8958L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5619L|TTN_uc010fre.1_Missense_Mutation_p.P69L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9885	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8958H(2)|p.R8958R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCACAGGAGGGATTTCTGA	0.368000														58			36		0	0	0.001951	0	0
ZFAT	57623	broad.mit.edu	37	8	135612690	135612690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:135612690G>A	uc003yup.3	-	6	2650	c.2464C>T	c.(2464-2466)Cac>Tac	p.H822Y	ZFAT_uc003yun.3_Missense_Mutation_p.H810Y|ZFAT_uc003yuo.3_Missense_Mutation_p.H810Y|ZFAT_uc010meh.3_Missense_Mutation_p.H810Y|ZFAT_uc010mej.3_Missense_Mutation_p.H760Y|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.H810Y|ZFAT_uc003yur.3_Missense_Mutation_p.H810Y|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTGCTGTGTGAACTTTAAGA	0.473000														90			40		0	0	0.001287	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069408	29069408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:29069408C>T	uc021okf.1	+	4	889	c.626C>T	c.(625-627)tCt>tTt	p.S209F	YTHDF2_uc001brc.3_Missense_Mutation_p.S209F|YTHDF2_uc010ofx.2_Missense_Mutation_p.S159F|YTHDF2_uc001bre.3_Missense_Mutation_p.S159F	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	209					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGTAGGTTCTGCTGTTGGT	0.473000														36			30		0	0	0.001271	0	0
PDE6B	5158	broad.mit.edu	37	4	628613	628613	+	Missense_Mutation	SNP	G	A	A	rs140444984		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:628613G>A	uc003gap.3	+	1	669	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PDE6B_uc003gao.4_Missense_Mutation_p.E206K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	206	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCGAAGACGAAGATGTGAG	0.602000														24			18		0	0	0.001882	0	0
RAET1K	646024	broad.mit.edu	37	6	150322493	150322493	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:150322493G>A	uc003qnq.3	-	1		c.384C>T								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		TTACCGATGGGTATTACATTC	0.408000														8			6		0	0	0.001984	0	0
PSRC1	84722	broad.mit.edu	37	1	109824339	109824340	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109824339_109824340GG>AA	uc001dxj.3	-	3	566_567	c.420_421CC>TT	c.(418-423)tcccca>tcTTca	p.P141S	PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Missense_Mutation_p.P141S|PSRC1_uc001dxd.3_Missense_Mutation_p.P141S|PSRC1_uc001dxf.3_Missense_Mutation_p.P141S	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	141	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGGCTGCTTGGGGAGGGGGTGC	0.599000														191			143		0	0	0.004672	0	0
PAX2	5076	broad.mit.edu	37	10	102509623	102509623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102509623C>T	uc001krk.4	+	1	714	c.164C>T	c.(163-165)tCc>tTc	p.S55F	PAX2_uc001krm.4_Missense_Mutation_p.S55F|PAX2_uc001krn.4_Missense_Mutation_p.S55F|PAX2_uc001kro.4_Missense_Mutation_p.S55F|PAX2_uc010qps.2_Missense_Mutation_p.S54F|PAX2_uc001krl.4_Missense_Mutation_p.S55F|PAX2_uc001krp.1_Missense_Mutation_p.S59F	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	55	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGTGACATCTCCCGGCAGCTG	0.687000														8			14		0	0	0.004990	0	0
JAG1	182	broad.mit.edu	37	20	10621490	10621490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:10621490G>A	uc002wnw.2	-	24	3656	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1047					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGCAATCAGCGAGCTGTTTCC	0.443000									Alagille Syndrome					34			5		0	0	0.000602	0	0
POU6F2	11281	broad.mit.edu	37	7	39503854	39503854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:39503854G>A	uc003thb.2	+	10	1788	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	POU6F2_uc022acb.1_Intron	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	549	POU-specific.				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						CAGTCTGACAGCCAAACTGAA	0.502000														67			41		0	0	0.002522	0	0
ADAM18	8749	broad.mit.edu	37	8	39502881	39502881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39502881G>A	uc003xni.3	+	10	989	c.934G>A	c.(934-936)Gga>Aga	p.G312R	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G288R	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	312	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGGTTTGGAGGGATTTTCGGT	0.313000														16			62		0	0	0.003610	0	0
PDCD4	27250	broad.mit.edu	37	10	112635822	112635822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:112635822C>T	uc001kzh.3	+	1	323	c.37C>T	c.(37-39)Cct>Tct	p.P13S	PDCD4_uc001kzg.3_5'UTR|PDCD4_uc010qre.2_Missense_Mutation_p.P13S	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	13					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GAATGTAAACCCTGCAGGTAA	0.393000														23			10		0	0	0.000443	0	0
PRSS55	203074	broad.mit.edu	37	8	10389019	10389019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:10389019G>A	uc003wta.3	+	2	602	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.E188K|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	188	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACATGGCGCGAATGCTGGGT	0.607000														15			31		0	0	0.002096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860355	228860355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228860355C>T	uc002vpq.2	-	7	4551	c.4504G>A	c.(4504-4506)Gcc>Acc	p.A1502T	SPHKAP_uc002vpp.2_Missense_Mutation_p.A1502T|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1502						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)		TCATCGGGGGCTCTGGCTTCT	0.557000														17			11		0	0	0.000673	0	0
DNAH8	1769	broad.mit.edu	37	6	38843394	38843394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38843394C>T	uc021yzh.1	+	52	7757	c.7648C>T	c.(7648-7650)Ccc>Tcc	p.P2550S	DNAH8_uc003ooe.2_Missense_Mutation_p.P2333S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGGTTAATTCCCTCCAAAGA	0.299000														38			15		0	0	0.003163	0	0
CFH	3075	broad.mit.edu	37	1	196694406	196694406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:196694406C>T	uc001gtj.4	+	11	2092	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	618	Sushi 10.				complement activation, alternative pathway	extracellular space		p.P618T(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGATTGTCTCCTGACCTCCC	0.358000														45			27		0	0	0.001786	0	0
MTMR2	8898	broad.mit.edu	37	11	95590751	95590751	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:95590751T>C	uc001pfu.3	-	6	872	c.619A>G	c.(619-621)Aag>Gag	p.K207E	MTMR2_uc001pfv.3_Missense_Mutation_p.K135E|MTMR2_uc001pfs.3_Missense_Mutation_p.K135E|MTMR2_uc001pft.3_Missense_Mutation_p.K135E|MTMR2_uc010ruj.1_Missense_Mutation_p.K190E	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	207	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCATATAGCTTCCACCCATTT	0.318000														61			5		0	0	0.000602	0	0
OR51A4	401666	broad.mit.edu	37	11	4967778	4967778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4967778C>T	uc010qys.2	-	0	553	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	185					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)		TTCATGACATCCTGGTGGAGA	0.408000														90			8		0	0	0.000743	0	0
RIMS1	22999	broad.mit.edu	37	6	72967888	72967888	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:72967888A>T	uc003pga.3	+	16	2908	c.2831A>T	c.(2830-2832)cAa>cTa	p.Q944L	RIMS1_uc011dyb.2_Missense_Mutation_p.Q569L|RIMS1_uc003pgc.3_Missense_Mutation_p.Q570L|RIMS1_uc010kaq.3_Missense_Mutation_p.Q417L|RIMS1_uc011dyc.2_Missense_Mutation_p.Q418L|RIMS1_uc010kar.3_Missense_Mutation_p.Q337L|RIMS1_uc011dyd.2_Missense_Mutation_p.Q403L|RIMS1_uc003pge.3_Missense_Mutation_p.Q161L|RIMS1_uc003pgf.3_Missense_Mutation_p.Q160L|RIMS1_uc003pgi.3_Missense_Mutation_p.Q160L|RIMS1_uc003pgg.3_Missense_Mutation_p.Q161L|RIMS1_uc003pgh.3_Missense_Mutation_p.Q160L|RIMS1_uc003pgd.3_Missense_Mutation_p.Q161L|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.Q570L|RIMS1_uc010kas.1_Missense_Mutation_p.Q403L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	944					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			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)				CCAGAACAGCAAAGAACAACT	0.428000														23			11		0	0	0.000673	0	0
SCN1A	6323	broad.mit.edu	37	2	166900267	166900267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166900267G>A	uc002udo.4	-	12	2182	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	SCN1A_uc010fpk.3_Missense_Mutation_p.S652F|SCN1A_uc021vsb.1_Missense_Mutation_p.S652F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	652						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACCAACCAAGGAAACCACACC	0.493000														42			26		0	0	0.001786	0	0
TAF1L	138474	broad.mit.edu	37	9	32631735	32631735	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:32631735C>T	uc003zrg.1	-	0	3933	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1281					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCACATTTCAGTTTTAGGT	0.473000														18			55		0	0	0.003610	0	0
C17orf56	146705	broad.mit.edu	37	17	79210864	79210864	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:79210864G>A	uc002jzu.2	-	2	187	c.129C>T	c.(127-129)tcC>tcT	p.S43S	C17orf56_uc002jzs.2_5'UTR|C17orf56_uc002jzt.2_5'UTR|C17orf56_uc002jzv.2_5'UTR|C17orf89_uc010dib.1_5'Flank|C17orf89_uc002jzx.2_5'Flank	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	43						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGACTCGTGGGAGATTTCTG	0.677000														0			5		0	0	0.001984	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168801	142168801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142168801C>T	uc011kry.1	-	0	210	c.44G>A	c.(43-45)gGa>gAa	p.G15E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACCTGCTCCCAGGAGACA	0.627000														12			25		0	0	0.001271	0	0
PTPRH	5794	broad.mit.edu	37	19	55707938	55707938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55707938C>T	uc002qjq.3	-	9	2282	c.2209G>A	c.(2209-2211)Gga>Aga	p.G737R	PTPRH_uc010esv.3_Missense_Mutation_p.G559R|PTPRH_uc002qjs.2_Missense_Mutation_p.G744R	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	737	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACCTTCATTCCGTCCCAGATG	0.627000														37			21		0	0	0.001523	0	0
DCN	1634	broad.mit.edu	37	12	91552088	91552088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91552088G>A	uc001tbt.3	-	3	777	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Nonsense_Mutation_p.Q175*	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	175					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACAATCATCTGGTTCAGTCCA	0.378000														70			42		0	0	0.002522	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751702	73751702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73751702G>A	uc011dyh.2	+	2	880	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	KCNQ5_uc003pgj.4_Missense_Mutation_p.R178Q|KCNQ5_uc011dyi.2_Missense_Mutation_p.R178Q|KCNQ5_uc010kat.3_Missense_Mutation_p.R178Q|KCNQ5_uc003pgk.3_Missense_Mutation_p.R178Q|KCNQ5_uc011dyj.2_Missense_Mutation_p.R178Q|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	178					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCATCATTCGAATCTGGTCT	0.428000														110			73		0	0	0.003610	0	0
LOC493754	493754	broad.mit.edu	37	7	66038513	66038513	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:66038513G>A	uc010lac.2	-	1		c.153C>T			LOC493754_uc010lad.3_Non-coding_Transcript|LOC493754_uc011kdx.2_Non-coding_Transcript|LOC493754_uc011kdy.1_Non-coding_Transcript|LOC493754_uc011kea.2_Non-coding_Transcript|LOC493754_uc003tvc.4_Non-coding_Transcript|LOC493754_uc011keb.2_Non-coding_Transcript					Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 pseudogene (LOC493754), non-coding RNA.																		TGCTGGCAAAGGCCTCTTCTT	0.458000														15			9		0	0	0.000743	0	0
COL17A1	1308	broad.mit.edu	37	10	105800840	105800840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105800840G>A	uc001kxr.3	-	38	2853	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	895	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGACAGGAACGATCCTGGTGG	0.587000														46			26		0	0	0.001512	0	0
ILDR2	387597	broad.mit.edu	37	1	166904659	166904659	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:166904659G>A	uc001gdx.2	-	5	815	c.759C>T	c.(757-759)gtC>gtT	p.V253V		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	253						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGGGCCGGGGACACCGGAGA	0.597000														36			13		0	0	0.001368	0	0
CWH43	80157	broad.mit.edu	37	4	48990612	48990612	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:48990612C>T	uc003gyv.3	+	1	344	c.162C>T	c.(160-162)ttC>ttT	p.F54F	CWH43_uc011bzl.2_Silent_p.F27F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	54					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCCAATATTCCTAACAATTA	0.368000														28			20		0	0	0.000958	0	0
OOEP	441161	broad.mit.edu	37	6	74079509	74079509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74079509C>T	uc003pgu.4	-	0	7	c.7G>A	c.(7-9)Gat>Aat	p.D3N	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	3						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CCAGCATCATCGACCATACTG	0.627000														39			15		0	0	0.002450	0	0
NFATC4	4776	broad.mit.edu	37	14	24845739	24845740	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:24845739_24845740CC>TT	uc001wpc.3	+	8	2617_2618	c.2296_2297CC>TT	c.(2296-2298)cct>TTt	p.P766F	NFATC4_uc010alr.3_Missense_Mutation_p.P829F|NFATC4_uc010tok.2_Missense_Mutation_p.P829F|NFATC4_uc010tol.2_Missense_Mutation_p.P829F|NFATC4_uc010too.2_Missense_Mutation_p.P779F|NFATC4_uc010tom.2_Missense_Mutation_p.P779F|NFATC4_uc010ton.2_Missense_Mutation_p.P779F|NFATC4_uc010toq.2_Missense_Mutation_p.P798F|NFATC4_uc010alt.3_Missense_Mutation_p.P798F|NFATC4_uc010top.2_Missense_Mutation_p.P798F|NFATC4_uc010tor.2_Missense_Mutation_p.P766F|NFATC4_uc010tos.2_Missense_Mutation_p.P696F|NFATC4_uc010tot.2_Missense_Mutation_p.P754F|NFATC4_uc010tou.2_Missense_Mutation_p.P696F|NFATC4_uc010tov.2_Missense_Mutation_p.P754F|NFATC4_uc010tow.2_Missense_Mutation_p.P696F|NFATC4_uc010alv.3_Missense_Mutation_p.P754F|NFATC4_uc010tox.2_Missense_Mutation_p.P696F|NFATC4_uc001wpd.3_Missense_Mutation_p.P301F|NFATC4_uc010toy.2_Missense_Mutation_p.P301F|NFATC4_uc010toz.2_Missense_Mutation_p.P301F|NFATC4_uc010tpa.2_Missense_Mutation_p.P54F|NFATC4_uc010tpb.2_Missense_Mutation_p.P54F	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	766	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCGGATGTTCCCTGAGACTAGG	0.619000														7			17		0	0	0.004672	0	0
SPATA6	54558	broad.mit.edu	37	1	48877184	48877184	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:48877184G>A	uc001crr.2	-	4	553	c.357C>T	c.(355-357)caC>caT	p.H119H	SPATA6_uc001crs.2_Silent_p.H119H|SPATA6_uc010omv.2_Silent_p.H105H	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	119					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGAATCATGGTGTCCAGACA	0.413000														32			23		0	0	0.003954	0	0
ETS1	2113	broad.mit.edu	37	11	128354878	128354878	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128354878G>A	uc010sbs.1	-	4	886	c.570C>T	c.(568-570)ccC>ccT	p.P190P	ETS1_uc001qej.2_Silent_p.P234P|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.P190P	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	190					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P190R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CCGAGCTGATGGGATGGAGCG	0.522000														50			48		0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109692838	109692838	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:109692838C>T	uc004bcz.3	+	3	6169	c.5880C>T	c.(5878-5880)atC>atT	p.I1960I	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.I1808I|ZNF462_uc004bda.3_Silent_p.I1808I|ZNF462_uc011lvz.2_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1960					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCCAAAGATCAAGGAGAGGA	0.478000														3			30		0	0	0.001061	0	0
MOV10L1	54456	broad.mit.edu	37	22	50596499	50596499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:50596499G>A	uc003bjj.3	+	22	3163	c.3080G>A	c.(3079-3081)cGg>cAg	p.R1027Q	MOV10L1_uc003bjk.4_Missense_Mutation_p.R1027Q|MOV10L1_uc011arp.2_Missense_Mutation_p.R1007Q|MOV10L1_uc003bjl.3_Missense_Mutation_p.R154Q|MOV10L1_uc003bjm.1_Missense_Mutation_p.R70Q	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1027					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCGAGGCACGGGAGGGAAAA	0.577000														45			25		0	0	0.001512	0	0
DMGDH	29958	broad.mit.edu	37	5	78350118	78350118	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:78350118C>T	uc003kfs.3	-	3	435	c.429G>A	c.(427-429)agG>agA	p.R143R	DMGDH_uc011cte.1_5'UTR|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	143					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)		ATTCATCTACCCTTACAGGGG	0.408000														3			18		0	0	0.004990	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21428330	21428330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21428330C>T	uc001rer.3	-	11	1890	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	SLCO1A2_uc010siq.2_Missense_Mutation_p.G415S|SLCO1A2_uc001res.3_Missense_Mutation_p.G547S|SLCO1A2_uc010sio.2_Missense_Mutation_p.G415S|SLCO1A2_uc010sip.2_Missense_Mutation_p.G415S|SLCO1A2_uc001ret.3_Missense_Mutation_p.G545S	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	547					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						AATCCCACACCAAGGGACTTC	0.264000														15			4		0	0	0.001168	0	0
TUBE1	51175	broad.mit.edu	37	6	112393209	112393209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:112393209G>A	uc003pvq.3	-	10	1279	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	389					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGGCCCACAGGAGGTACGGAA	0.408000														67			28		0	0	0.001786	0	0
GJA10	84694	broad.mit.edu	37	6	90605568	90605568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90605568C>T	uc011eaa.2	+	0	1381	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	461					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTGGATTTTCCTCACTGGGA	0.507000														51			30		0	0	0.001786	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573503	53573503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:53573503G>A	uc003xre.4	-	10	2168	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	RB1CC1_uc003xrf.4_Missense_Mutation_p.S537F	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	537					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTTCCCAAAGGATTCCCTTTT	0.294000														16			18		0	0	0.000743	0	0
DNAH8	1769	broad.mit.edu	37	6	38840389	38840389	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38840389G>A	uc021yzh.1	+	49	7177	c.7068G>A	c.(7066-7068)acG>acA	p.T2356T	DNAH8_uc003ooe.2_Silent_p.T2139T	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCGTTATCACGATTCTAATGA	0.443000														29			21		0	0	0.001216	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071133	150071133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:150071133C>T	uc002twv.1	+	6	934	c.533C>T	c.(532-534)gCc>gTc	p.A178V	LYPD6B_uc002tww.1_Missense_Mutation_p.A140V|LYPD6B_uc002twx.1_Missense_Mutation_p.A140V	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.	154						anchored to membrane|plasma membrane		p.A178V(2)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GCAGTGTTTGCCGTAATGCAC	0.483000														64			41		0	0	0.002852	0	0
NOTCH4	4855	broad.mit.edu	37	6	32191635	32191635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32191635C>T	uc003obb.3	-	0	210	c.71G>A	c.(70-72)aGa>aAa	p.R24K	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.R24K	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	24	EGF-like 1.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCCTCACCTCTGGGTCTGAC	0.647000														59			36		0	0	0.004878	0	0
NDST4	64579	broad.mit.edu	37	4	115749015	115749015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:115749015G>A	uc003ibu.3	-	13	3255	c.2576C>T	c.(2575-2577)cCt>cTt	p.P859L	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	859	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P859T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CGATGGCAGAGGCTGTCCCAG	0.398000														33			17		0	0	0.004990	0	0
ABCC6	368	broad.mit.edu	37	16	16286741	16286741	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:16286741G>A	uc002den.4	-	10	1414	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.F471F	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	459	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAGGCTCAGGAAGACAGCGA	0.587000														38			18		0	0	0.003330	0	0
ZEB1	6935	broad.mit.edu	37	10	31809275	31809275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31809275C>T	uc001ivs.4	+	6	1075	c.1012C>T	c.(1012-1014)Caa>Taa	p.Q338*	ZEB1_uc001ivr.4_Nonsense_Mutation_p.Q120*|ZEB1_uc010qef.2_Nonsense_Mutation_p.Q120*|ZEB1_uc009xlj.1_Nonsense_Mutation_p.Q264*|ZEB1_uc010qeg.1_Nonsense_Mutation_p.Q197*|ZEB1_uc009xlk.1_Nonsense_Mutation_p.Q120*|ZEB1_uc001ivu.4_Nonsense_Mutation_p.Q339*|ZEB1_uc010qeh.2_Nonsense_Mutation_p.Q271*|ZEB1_uc001ivv.4_Nonsense_Mutation_p.Q318*|ZEB1_uc001ivt.4_Nonsense_Mutation_p.Q120*|ZEB1_uc009xlo.2_Nonsense_Mutation_p.Q321*|ZEB1_uc009xlp.3_Nonsense_Mutation_p.Q322*	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	338					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)				TAAACCCCTTCAAGAACAACT	0.423000														23			11		0	0	0.000673	0	0
INTS1	26173	broad.mit.edu	37	7	1516266	1516266	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:1516266G>A	uc003skn.2	-	36	5192	c.5091C>T	c.(5089-5091)ttC>ttT	p.F1697F		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1697					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCCCAGAGGAAGTCCAGAG	0.662000														41			12		0	0	0.002450	0	0
ELF1	1997	broad.mit.edu	37	13	41525489	41525489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:41525489G>A	uc001uxs.3	-	3	710	c.337C>T	c.(337-339)Cct>Tct	p.P113S	ELF1_uc010tfc.2_Missense_Mutation_p.P113S|ELF1_uc010acd.3_Missense_Mutation_p.P6S	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	113					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCCAGCATAGGGCCAGGGGAA	0.368000														96			26		0	0	0.001061	0	0
MACF1	23499	broad.mit.edu	37	1	39818804	39818805	+	Missense_Mutation	DNP	GG	AA	AA	rs150239827	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:39818804_39818805GG>AA	uc021olw.1	+	7	6645_6646	c.6645_6646GG>AA	c.(6643-6648)tcggga>tcAAga	p.G2216R	MACF1_uc021ols.1_Missense_Mutation_p.G1714R|MACF1_uc001cdc.2_Missense_Mutation_p.G1714R|MACF1_uc021olt.1_Missense_Mutation_p.G1714R|MACF1_uc001cda.1_Missense_Mutation_p.G1622R|MACF1_uc001cdb.1_Missense_Mutation_p.G801R	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3781					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.S2215S(2)|p.S1713S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCAGCTCTCGGGAGCTAGCTT	0.505000														44			24		0	0	0.004672	0	0
AKR1B10	57016	broad.mit.edu	37	7	134223737	134223737	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:134223737C>T	uc003vrr.3	+	8	1196	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	292					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TACTCAGCTTCAACAGAAACT	0.428000														36			29		0	0	0.004878	0	0
TTBK1	84630	broad.mit.edu	37	6	43252050	43252050	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43252050G>A	uc003ouq.1	+	14	3851	c.3572_splice	c.e14+1	p.R1191_splice	TTBK1_uc021yzs.1_Splice_Site_p.S479_splice	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	1191						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATCACCAGCAGGTGAGAAACC	0.662000														12			6		0	0	0.001168	0	0
ZNF808	388558	broad.mit.edu	37	19	53057053	53057053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53057053C>T	uc010epq.1	+	4	1061	c.884C>T	c.(883-885)tCc>tTc	p.S295F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTGGAAAGTCCTTCAGTTAC	0.408000														92			59		0	0	0.003610	0	0
ADARB2-AS1	642394	broad.mit.edu	37	10	1569002	1569002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:1569002C>T	uc001ign.3	+	0	178	c.35C>T	c.(34-36)tCc>tTc	p.S12F	ADARB2_uc009xhq.3_Intron					Homo sapiens ADARB2 antisense RNA 1 (non-protein coding) (ADARB2-AS1), non-coding RNA.																		CCTGGCACCTCCCTGACTCAC	0.602000														16			13		0	0	0.001855	0	0
C1orf187	374946	broad.mit.edu	37	1	11766526	11766526	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11766526C>T	uc001asr.1	+	1	351	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	71					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		GGGCCCAGGCCTGCCCAGCCA	0.716000														8			7		0	0	0.004482	0	0
YBX2	51087	broad.mit.edu	37	17	7193773	7193773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7193773G>A	uc002gfq.2	-	4	598	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	181					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647000														6			28		0	0	0.001512	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763940	92763940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92763940C>T	uc003umh.1	-	4	2561	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	SAMD9L_uc003umj.1_Missense_Mutation_p.E449K|SAMD9L_uc003umi.1_Missense_Mutation_p.E449K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E449K|SAMD9L_uc003umk.1_Missense_Mutation_p.E449K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E449K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E449K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E449K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	449										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCATAGATTCAGGATCAAAC	0.353000														55			59		0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179702243	179702243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179702243C>T	uc002une.2	-	22	3821	c.3703G>A	c.(3703-3705)Gaa>Aaa	p.E1235K	CCDC141_uc002unf.1_Missense_Mutation_p.E714K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	660							protein binding	p.E1235K(1)|p.E660K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACAGGCTCTTCCACCTCCATG	0.577000														17			17		0	0	0.000743	0	0
FMNL2	114793	broad.mit.edu	37	2	153482066	153482066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:153482066G>A	uc002tye.3	+	15	2319	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	FMNL2_uc010fob.3_Missense_Mutation_p.R107Q|FMNL2_uc002tyf.3_Missense_Mutation_p.R100Q	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	651	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding	p.R651Q(2)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GATGATGAGCGAATTCTGGAG	0.438000														36			26		0	0	0.001512	0	0
TMEM8A	58986	broad.mit.edu	37	16	426150	426150	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:426150G>A	uc002cgu.4	-	5	1339	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	TMEM8A_uc002cgv.4_Silent_p.L211L	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	404					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TTGGCCCGCAGGGAGATGGTG	0.677000														9			5		0	0	0.001168	0	0
LILRB4	11006	broad.mit.edu	37	19	55177872	55177872	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55177872C>T	uc002qgp.3	+	8	1335	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	LILRB4_uc002qgq.3_Nonsense_Mutation_p.Q325*|LILRB4_uc010ert.3_Nonsense_Mutation_p.Q366*|LILRB4_uc010eru.3_Nonsense_Mutation_p.Q354*	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	325						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCTGACGTCCAGGGAGAAAA	0.587000														28			12		0	0	0.001855	0	0
NCEH1	57552	broad.mit.edu	37	3	172351766	172351766	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:172351766G>A	uc011bpx.2	-	4	984	c.846C>T	c.(844-846)atC>atT	p.I282I	NCEH1_uc003fig.3_Silent_p.I274I|NCEH1_uc011bpw.2_Silent_p.I109I|NCEH1_uc011bpy.2_Silent_p.I109I	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	242					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						AGCGGGGCAGGATTGGGGTGT	0.393000														34			13		0	0	0.002450	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545893	138545893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:138545893G>A	uc011kql.2	-	15	5288	c.5239C>T	c.(5239-5241)Ccc>Tcc	p.P1747S	KIAA1549_uc011kqi.2_Missense_Mutation_p.P531S|KIAA1549_uc011kqk.2_Missense_Mutation_p.P531S|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1747S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1747						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACACTGCAGGGATTGTTGGCC	0.582000			O	BRAF	pilocytic astrocytoma									10			34		0	0	0.003271	0	0
CACNA1I	8911	broad.mit.edu	37	22	40075813	40075813	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40075813C>T	uc003ayc.3	+	32	5481	c.5481C>T	c.(5479-5481)tcC>tcT	p.S1827S	CACNA1I_uc003ayd.3_Silent_p.S1792S|CACNA1I_uc003aye.3_Silent_p.S1742S|CACNA1I_uc003ayf.3_Silent_p.S1707S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1827					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGTCGGGCTCCATCTTCCACC	0.612000														7			9		0	0	0.000673	0	0
FAM123B	139285	broad.mit.edu	37	X	63409897	63409897	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:63409897G>A	uc022byb.1	-	0	3270	c.3270C>T	c.(3268-3270)gtC>gtT	p.V1090V	FAM123B_uc004dvo.3_Silent_p.V1090V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	1090	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GCTCAGGCCGGACCCTGGGCA	0.627000														2			6		0	0	0.003080	0	0
TMEM37	140738	broad.mit.edu	37	2	120194827	120194827	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:120194827C>T	uc002tly.3	+	1	418	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	128						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCATGGGTTCCATCCTCCTCC	0.577000														90			56		0	0	0.003610	0	0
ZFR2	23217	broad.mit.edu	37	19	3834946	3834946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3834946C>T	uc002lyw.2	-	1	101	c.89G>A	c.(88-90)gGg>gAg	p.G30E	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	30						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)		ATAGCTGGCCCCCACAGTGGG	0.637000														10			5		0	0	0.001168	0	0
MYH7B	57644	broad.mit.edu	37	20	33586701	33586701	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33586701G>A	uc002xbi.2	+	34	4616	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1391						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)			AGAGGACCGAGGAGCTGGAGG	0.637000														8			24		0	0	0.002299	0	0
TP53	7157	broad.mit.edu	37	17	7576857	7576857	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7576857A>C	uc002gim.2	-	8	1183	c.989T>G	c.(988-990)cTt>cGt	p.L330R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.L330R|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Missense_Mutation_p.L198R|TP53_uc010cnf.1_Missense_Mutation_p.L198R|TP53_uc002gii.1_Missense_Mutation_p.L198R|TP53_uc010cni.1_Missense_Mutation_p.L330R|TP53_uc010cnh.1_Missense_Mutation_p.L330R|TP53_uc002gij.2_Missense_Mutation_p.L330R|DL476313_uc021tpe.1_Non-coding_Transcript|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	330	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L330H(6)|p.T329T(2)|p.T329fs*8(2)|p.L330P(2)|p.L330R(2)|p.T329I(2)|p.?(1)|p.T329fs*21(1)|p.L330fs*15(1)|p.Q331fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGTACCTGAAGGGTGAAATA	0.453000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				15			34		0	0	0.003755	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711275	140711275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140711275G>A	uc003lji.2	+	0	1024	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D342N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	345	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTAAATGATAATGCCCC	0.438000														9			19		0	0	0.001216	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183363	118183363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:118183363C>T	uc003yoh.3	+	6	1150	c.920C>T	c.(919-921)tCt>tTt	p.S307F	SLC30A8_uc010mcz.3_Missense_Mutation_p.S258F|SLC30A8_uc003yog.3_Missense_Mutation_p.S258F|SLC30A8_uc011lia.2_Missense_Mutation_p.S258F|SLC30A8_uc022bab.1_Missense_Mutation_p.S258F	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	307					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CACATCTGGTCTCTAACAATG	0.443000														221			278		0	0	0.003610	0	0
SH3GL1	6455	broad.mit.edu	37	19	4361744	4361744	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4361744C>T	uc002maj.3	-	9	1160	c.960G>A	c.(958-960)gaG>gaA	p.E320E	SH3GL1_uc002mak.3_Silent_p.E256E|SH3GL1_uc010xig.2_Silent_p.E272E	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	320	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCCCGTCGTTCTCGGGCTCGA	0.687000			T	MLL	AL									36			14		0	0	0.004990	0	0
MED12L	116931	broad.mit.edu	37	3	151131009	151131009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151131009C>T	uc003eyp.3	+	39	6247	c.6118C>T	c.(6118-6120)Ccc>Tcc	p.P2040S	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2040	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCAAACCTTCCCTCCGTGCC	0.577000														26			30		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179452454	179452454	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179452454G>A	uc021vsy.1	-	254	56103	c.55878C>T	c.(55876-55878)ctC>ctT	p.L18626L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L12321L|TTN_uc021vta.1_Silent_p.L12254L|TTN_uc021vtb.1_Silent_p.L12129L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19553							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)			CTATAGCAAAGAGACGAATAG	0.443000														18			17		0	0	0.004990	0	0
ABCC12	94160	broad.mit.edu	37	16	48119551	48119551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:48119551C>T	uc002efc.1	-	26	4127	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1261	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGCTGACGTTCCCCTACTGAG	0.418000														45			30		0	0	0.001287	0	0
ROS1	6098	broad.mit.edu	37	6	117674323	117674323	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117674323G>C	uc003pxp.1	-	25	4350	c.4151C>G	c.(4150-4152)aCc>aGc	p.T1384S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1384					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTAACAAGGGTTTTTCCTGC	0.308000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									29			11		0	0	0.001368	0	0
THBS1	7057	broad.mit.edu	37	15	39885655	39885656	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39885655_39885656GG>AA	uc001zkh.3	+	18	3232_3233	c.3053_3054GG>AA	c.(3052-3054)agg>aAA	p.R1018K	THBS1_uc010bbi.3_Missense_Mutation_p.R490K	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1018	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.R1018M(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AACACCGAAAGGGACGATGACT	0.495000														104			77		0	0	0.004672	0	0
USH1C	10083	broad.mit.edu	37	11	17553056	17553056	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17553056C>T	uc001mnf.3	-	2	247	c.138G>A	c.(136-138)ctG>ctA	p.L46L	USH1C_uc001mne.3_Silent_p.L46L|USH1C_uc009yhb.3_Silent_p.L46L|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.L10L	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	46					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						TGACCAGCTTCAGGTCTCCCA	0.607000														14			10		0	0	0.000673	0	0
XIST	7503	broad.mit.edu	37	X	73062187	73062187	+	RNA	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73062187G>A	uc004ebm.1	-	0		c.10402C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGTGTACACTGGAAACACAAA	0.443000														1			5		0	0	0.001168	0	0
DGKI	9162	broad.mit.edu	37	7	137076046	137076046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:137076046C>T	uc003vtt.3	-	33	3119	c.3118G>A	c.(3118-3120)Gac>Aac	p.D1040N	DGKI_uc003vtu.3_Missense_Mutation_p.D709N	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	1040					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.D1040A(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAGTCTGGGTCCCCAGCCTGC	0.468000														9			76		0	0	0.003610	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37199453	37199453	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:37199453A>T	uc002hrd.1	+	3		c.2605_splice	c.e3-1							Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TTTTGGTAGGAATCTTGGTTG	0.353000														20			79		0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183066172	183066172	+	Silent	SNP	G	A	A	rs149666537		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:183066172G>A	uc002uos.3	-	10	1251	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	PDE1A_uc010zfp.1_Silent_p.F285F|PDE1A_uc002uoq.1_Silent_p.F389F|PDE1A_uc010zfq.1_Silent_p.F389F|PDE1A_uc002uor.3_Silent_p.F373F|PDE1A_uc002uou.3_Silent_p.F355F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	389	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F389F(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCACCTGCAGGAAAAACTCCT	0.483000														57			32		0	0	0.003271	0	0
ZNF264	9422	broad.mit.edu	37	19	57723784	57723784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57723784C>T	uc002qob.3	+	3	1733	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		ACCCACTGCTCTACTTTTATC	0.517000														29			19		0	0	0.000743	0	0
PRKCG	5582	broad.mit.edu	37	19	54394961	54394961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54394961C>T	uc002qcq.1	+	5	845	c.563C>T	c.(562-564)cCc>cTc	p.P188L	PRKCG_uc010eqz.1_Missense_Mutation_p.P188L|PRKCG_uc010yef.1_Missense_Mutation_p.P188L|PRKCG_uc010yeg.1_Missense_Mutation_p.P188L|PRKCG_uc010yeh.1_Missense_Mutation_p.P75L|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	188	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTATGGACCCCAATGGTCTC	0.552000														72			33		0	0	0.002522	0	0
ME1	4199	broad.mit.edu	37	6	84108201	84108201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84108201C>T	uc003pjy.3	-	2	512	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ME1_uc011dzb.2_Missense_Mutation_p.E8K|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	83					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAGAGTTTTTCATTTCTATCT	0.343000														36			15		0	0	0.004007	0	0
LRRK1	79705	broad.mit.edu	37	15	101549171	101549171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:101549171C>T	uc002bwr.3	+	6	1211	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	298					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCGGTTATCCCCTGGGGCCT	0.597000											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			10		0	0	0.001368	0	0
FBXO30	84085	broad.mit.edu	37	6	146126358	146126358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:146126358G>A	uc003qla.3	-	1	1383	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	395	F-box.						ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AGACCAACATGAATTAGAAAG	0.388000														79			58		0	0	0.003610	0	0
HTR2A	3356	broad.mit.edu	37	13	47409676	47409676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:47409676C>T	uc010acr.3	-	3	1401	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	HTR2A_uc001vbr.3_Missense_Mutation_p.G154S	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	238					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACAAAAGAGCCGATCAGGACA	0.428000														28			28		0	0	0.002445	0	0
ARPP21	10777	broad.mit.edu	37	3	35732430	35732430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:35732430G>A	uc011axy.2	+	7	831	c.619G>A	c.(619-621)Gga>Aga	p.G207R	ARPP21_uc003cga.3_Missense_Mutation_p.G207R|ARPP21_uc003cgb.3_Missense_Mutation_p.G207R|ARPP21_uc003cgf.3_Missense_Mutation_p.G43R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	207	R3H.					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						AGCTTATTTTGGATTGGATCA	0.378000														39			27		0	0	0.001061	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303487	151303487	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:151303487G>A	uc022cgz.1	-	0	606	c.606C>T	c.(604-606)gtC>gtT	p.V202V	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.V202V|MAGEA10_uc004ffm.2_Silent_p.V202V|MAGEA10_uc004ffl.3_Silent_p.V202V	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	202	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACAAGGACAAAGGAGT	0.498000														6			23		0	0	0.003330	0	0
LY9	4063	broad.mit.edu	37	1	160766023	160766023	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160766023T>A	uc001fwu.3	+	0	96	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	LY9_uc001fwt.3_Missense_Mutation_p.F16I|LY9_uc010pjs.1_Missense_Mutation_p.F16I|LY9_uc001fwv.3_Missense_Mutation_p.F16I|LY9_uc001fww.3_Missense_Mutation_p.F16I	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	16					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCTGGGCCTTTCTCCAGTAA	0.498000														80			32		0	0	0.002096	0	0
HEMGN	55363	broad.mit.edu	37	9	100693345	100693345	+	Missense_Mutation	SNP	G	A	A	rs139664531	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:100693345G>A	uc004axy.3	-	2	440	c.332C>T	c.(331-333)cCt>cTt	p.P111L	HEMGN_uc004axz.3_Missense_Mutation_p.P111L	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	111					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TATGCTCCCAGGTGGCTCAGT	0.418000														12			64		0	0	0.003610	0	0
RAVER2	55225	broad.mit.edu	37	1	65273010	65273010	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:65273010G>A	uc001dbt.2	+	6	1217	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	RAVER2_uc001dbs.2_Silent_p.Q498Q|RAVER2_uc010opb.2_Intron	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	511						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGGAGAAACAGCCAGCCACGG	0.512000														29			15		0	0	0.004990	0	0
COL25A1	84570	broad.mit.edu	37	4	109782121	109782121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:109782121G>A	uc021xqo.1	-	21	1260	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	COL25A1_uc003hze.1_Missense_Mutation_p.R402C|COL25A1_uc021xqp.1_Missense_Mutation_p.R402C|COL25A1_uc003hzg.3_Missense_Mutation_p.R402C|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.R168C	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	402	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTTTCTCCACGATCCCCCTTT	0.438000														26			23		0	0	0.001061	0	0
TTN	7273	broad.mit.edu	37	2	179399109	179399109	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179399109T>A	uc021vsy.1	-	306	94754	c.94529A>T	c.(94528-94530)gAa>gTa	p.E31510V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25205V|TTN_uc021vta.1_Missense_Mutation_p.E25138V|TTN_uc021vtb.1_Missense_Mutation_p.E25013V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32437	Ig-like 140.						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)			ACTGACTCTTTCTATCTTCTG	0.463000														39			38		0	0	0.005524	0	0
TMEM8A	58986	broad.mit.edu	37	16	426584	426584	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:426584G>A	uc002cgu.4	-	4	993	c.864C>T	c.(862-864)ccC>ccT	p.P288P	TMEM8A_uc002cgv.4_Silent_p.P95P	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	288					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTGTCCCGAGGGGCCCCACCA	0.692000														14			8		0	0	0.000443	0	0
JPH2	57158	broad.mit.edu	37	20	42789047	42789047	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42789047C>T	uc002xli.1	-	2	1253	c.380_splice	c.e2-1	p.G127_splice		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	127	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGGTACGTCCCTGCGGGCGA	0.721000														16			5		0	0	0.001984	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063782	15063782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15063782G>A	uc002naa.1	-	7	1464	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	SLC1A6_uc010dzu.1_Missense_Mutation_p.P408L|SLC1A6_uc010xod.1_Missense_Mutation_p.P422L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	486					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GTCTTCCGTGGGCAAGCCGAC	0.612000														48			44		0	0	0.002522	0	0
KRT76	51350	broad.mit.edu	37	12	53169341	53169341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53169341C>T	uc001sax.3	-	1	700	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	216	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGAGCAGTTCCCACTTGGTC	0.552000														66			39		0	0	0.001485	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858522	43858522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:43858522C>T	uc010skx.2	-	9	1381	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	461	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.E461*(3)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAAGACATTCCCCGTAACCA	0.363000														28			14		0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152281990	152281990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152281990C>T	uc001ezu.1	-	2	5408	c.5372G>A	c.(5371-5373)aGa>aAa	p.R1791K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1791	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCGGGATCTTTGTCTTCC	0.602000									Ichthyosis					133			126		0	0	0.003610	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857576	30857576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30857576C>T	uc003ahy.3	-	9	966	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SEC14L3_uc003ahz.3_Missense_Mutation_p.E216K|SEC14L3_uc003aia.3_Missense_Mutation_p.E234K|SEC14L3_uc003aib.3_Missense_Mutation_p.E234K	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	293	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATCTCGTATTCCACTTGGTGT	0.592000														10			11		0	0	0.000978	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463542	50463542	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50463542G>A	uc010ybh.2	-	2	688	c.597C>T	c.(595-597)tcC>tcT	p.S199S	SIGLEC11_uc010ybi.2_Silent_p.S199S	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	199	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTCTTCTAGGGGAGAGGGCAG	0.607000														10			7		0	0	0.000673	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534638	37534639	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:37534638_37534639CC>TT	uc002xje.3	+	6	912_913	c.723_724CC>TT	c.(721-726)tacctg>taTTtg	p.241_242YL>YL	PPP1R16B_uc010ggc.3_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	241					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCAATGGATACCTGCGGGCAGC	0.594000														21			40		0	0	0.004672	0	0
DOK5	55816	broad.mit.edu	37	20	53205089	53205089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:53205089G>A	uc002xwy.3	+	2	462	c.242G>A	c.(241-243)gGg>gAg	p.G81E		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	81	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CATGCCATAGGGATTTATTTC	0.418000														54			76		0	0	0.003610	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338030	39338030	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39338030G>A	uc021uuh.1	-	1	323	c.312C>T	c.(310-312)gtC>gtT	p.V104V	HNRNPL_uc021uui.1_5'UTR	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	104	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCTGATGTGGACAACTGGGG	0.532000														36			18		0	0	0.000958	0	0
PEAR1	375033	broad.mit.edu	37	1	156883066	156883066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156883066C>T	uc001fqj.1	+	18	2619	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	PEAR1_uc001fqk.1_Missense_Mutation_p.P460S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	835	Pro-rich.					integral to membrane		p.P834S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCCCACCCCCTAACAAGGT	0.607000														51			19		0	0	0.001882	0	0
UTP20	27340	broad.mit.edu	37	12	101693833	101693834	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101693833_101693834GG>TT	uc001tia.1	+	13	1825_1826	c.1669_1670GG>TT	c.(1669-1671)ggg>TTg	p.G557L		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	557					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGGAAGCTTTGGGAAAGGTCAG	0.411000														132			7		0	0	0.004672	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22236785	22236785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22236785G>A	uc001wbt.1	+	0	57	c.50G>A	c.(49-51)gGg>gAg	p.G17E	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		CCACATTTGGGGAGACGAATG	0.468000														134			73		0	0	0.003610	0	0
ZNF569	148266	broad.mit.edu	37	19	37904621	37904621	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:37904621G>A	uc002ogj.3	-	8	1943	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	ZNF569_uc002ogh.3_Silent_p.L154L|ZNF569_uc002ogi.3_Silent_p.L313L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTGCAATGAGGCTTTGCT	0.388000														91			66		0	0	0.003610	0	0
SLC2A2	6514	broad.mit.edu	37	3	170732471	170732471	+	Missense_Mutation	SNP	C	T	T	rs145210664		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170732471C>T	uc003fhe.1	-	2	467	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	53					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GATAGCTTTTCGGTCATCCAG	0.368000														42			38		0	0	0.001485	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873957	24873957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24873957G>A	uc001isb.2	-	25	5748	c.5261C>T	c.(5260-5262)tCc>tTc	p.S1754F	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1753	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTTTTTCGGATTCGCCTCT	0.438000														90			64		0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1437351	1437351	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1437351G>A	uc002qwr.3	+	3	407	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.L107L|TPO_uc002qww.3_Silent_p.L107L|TPO_uc002qwx.3_Silent_p.L107L|TPO_uc002qwu.3_Silent_p.L107L|TPO_uc010yio.2_Silent_p.L107L|TPO_uc010yip.2_Silent_p.L107L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	107					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGTCAACCTGAAAACTCAAC	0.498000														17			11		0	0	0.000978	0	0
CACNA1C	775	broad.mit.edu	37	12	2705123	2705123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:2705123C>T	uc009zdu.1	+	19	3060	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S916F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S916F|CACNA1C_uc001qke.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S916F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S916F|CACNA1C_uc001qko.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S916F|CACNA1C_uc001qku.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S916F|CACNA1C_uc001qks.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S913F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S916F|CACNA1C_uc001qka.1_Missense_Mutation_p.S451F|CACNA1C_uc001qki.1_Missense_Mutation_p.S652F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	916					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	p.S915P(1)		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)	AGCAGCATTTCCCTGGCTGCT	0.582000														33			9		0	0	0.000673	0	0
STAB2	55576	broad.mit.edu	37	12	104105273	104105273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104105273G>A	uc001tjw.3	+	39	4499	c.4313G>A	c.(4312-4314)gGg>gAg	p.G1438E	STAB2_uc009zug.3_5'Flank	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1438	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACTGCAATGGGACATGCCAT	0.468000														51			37		0	0	0.001951	0	0
COL4A5	1287	broad.mit.edu	37	X	107869005	107869005	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:107869005C>T	uc022ccg.1	+	34	3289	c.3087C>T	c.(3085-3087)atC>atT	p.I1029I	COL4A5_uc004enz.1_Silent_p.I1029I|COL4A5_uc004eob.1_Silent_p.I637I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1029	Triple-helical region.				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						AAGGAACCATCGGTGATATGG	0.413000									Alport syndrome with Diffuse Leiomyomatosis					6			22		0	0	0.004656	0	0
C7orf62	219557	broad.mit.edu	37	7	88424228	88424228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:88424228C>T	uc003ujv.3	-	1	211	c.29G>A	c.(28-30)gGc>gAc	p.G10D	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.G10D	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	10										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCTTTTGCTGCCCTTCTGGTT	0.423000														81			96		0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121293205	121293205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121293205C>T	uc003yox.3	+	30	3996	c.3731C>T	c.(3730-3732)tCa>tTa	p.S1244L	COL14A1_uc003yoz.3_Missense_Mutation_p.S209L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1244	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAAGATTTTTCATCAGTGGAA	0.358000														25			25		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179430965	179430965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179430965C>T	uc021vsy.1	-	274	72415	c.72190G>A	c.(72190-72192)Gaa>Aaa	p.E24064K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17759K|TTN_uc021vta.1_Missense_Mutation_p.E17692K|TTN_uc021vtb.1_Missense_Mutation_p.E17567K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24991	Fibronectin type-III 75.						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)			TCTGTGAATTCACCTTCCTCT	0.388000														79			70		0	0	0.003610	0	0
C6orf165	154313	broad.mit.edu	37	6	88170799	88170799	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:88170799G>A	uc003plv.3	+	11	1677	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.Q330Q|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	518										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GTAGCACACAGACGAATACAC	0.323000														35			20		0	0	0.001523	0	0
AOAH	313	broad.mit.edu	37	7	36677516	36677516	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:36677516C>T	uc022abu.1	-	5	792	c.391_splice	c.e5-1	p.E131_splice	AOAH_uc003tfh.4_Splice_Site_p.E131_splice|AOAH_uc011kba.2_Splice_Site_p.E99_splice	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	131					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTCCATGTCTCCTATAAAAAC	0.348000														29			12		0	0	0.000978	0	0
ABCA2	20	broad.mit.edu	37	9	139905529	139905529	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:139905529G>A	uc004ckm.1	-	38	6089	c.6039C>T	c.(6037-6039)ttC>ttT	p.F2013F	ABCA2_uc022bpy.1_Silent_p.F1914F|ABCA2_uc022bpz.1_Silent_p.F1984F|ABCA2_uc011mem.1_Silent_p.F1983F|ABCA2_uc004ckl.1_Silent_p.F1914F|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1983					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCCCACTCGAACGGGGACT	0.672000														5			18		0	0	0.004990	0	0
ADH7	131	broad.mit.edu	37	4	100340194	100340194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100340194C>T	uc003huv.2	-	6	1187	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ADH7_uc021xqj.1_Missense_Mutation_p.D324N	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	316					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AACATCGGGTCATAGGTGAGC	0.517000														24			16		0	0	0.000743	0	0
PET112	5188	broad.mit.edu	37	4	152679989	152679989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:152679989G>A	uc003iml.3	-	1	303	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	PET112_uc003imm.4_Missense_Mutation_p.R88C	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	88						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTGAAAAGCGAACTTGAGAT	0.383000														79			59		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179454202	179454202	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179454202C>T	uc021vsy.1	-	252	54771	c.54546G>A	c.(54544-54546)ggG>ggA	p.G18182G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G11877G|TTN_uc021vta.1_Silent_p.G11810G|TTN_uc021vtb.1_Silent_p.G11685G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19109	Ig-like 105.						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)			AGTCACTTTCCCCACCTTCAT	0.398000														29			26		0	0	0.003330	0	0
THEG	51298	broad.mit.edu	37	19	373504	373504	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:373504G>A	uc002lol.3	-	3	574	c.531C>T	c.(529-531)ttC>ttT	p.F177F	THEG_uc002lom.3_Silent_p.F153F	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	177					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCTCAAGGAACCGCTCGG	0.682000														23			15		0	0	0.004990	0	0
abParts	0	broad.mit.edu	37	14	107048827	107048827	+	RNA	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:107048827C>T	uc021ser.1	-	169		c.7203G>A								Parts of antibodies, mostly variable regions.																		GAGACCCACTCCAGCCCCTTC	0.572000														15			77		0	0	0.003610	0	0
STK31	56164	broad.mit.edu	37	7	23776684	23776684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:23776684C>T	uc003sws.4	+	7	1071	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	STK31_uc003swt.4_Missense_Mutation_p.A312V|STK31_uc011jze.2_Missense_Mutation_p.A335V|STK31_uc010kuq.3_Missense_Mutation_p.A312V	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	335							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCAGATTGCCCAGGAGCTG	0.403000														18			8		0	0	0.003080	0	0
MUC5B	727897	broad.mit.edu	37	11	1156663	1156663	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1156663G>A	uc021qbr.1	+	6	726	c.679_splice	c.e6+1	p.N227_splice				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	223	VWFD 1.				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)		CTCTCCCACAGTAAGGCCCCA	0.612000														25			18		0	0	0.000743	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364501	42364501	+	Silent	SNP	C	T	T	rs143657689	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42364501C>T	uc001zox.3	-	13	1502	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	469	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAGATTGTTCTCTTTGACAT	0.577000														78			41		0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92734745	92734745	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92734745A>C	uc003umf.3	-	2	936	c.666T>G	c.(664-666)ttT>ttG	p.F222L	SAMD9_uc003umg.3_Missense_Mutation_p.F222L|SAMD9_uc022ahg.1_Missense_Mutation_p.F222L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	222						cytoplasm		p.R221*(2)|p.R221R(1)|p.R221L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGCTGAAGCAAATCGGAAAA	0.388000														114			44		0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121262996	121262996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121262996G>A	uc003yox.3	+	21	3008	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	COL14A1_uc003yoy.3_Missense_Mutation_p.V593M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	915	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACAGGCATGGTGAAAACATG	0.493000														19			33		0	0	0.003755	0	0
TP73	7161	broad.mit.edu	37	1	3638758	3638758	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3638758G>A	uc001akp.3	+	4	713	c.603G>A	c.(601-603)agG>agA	p.R201R	TP73_uc021ofb.1_Silent_p.R201R|TP73_uc021ofc.1_Silent_p.R201R|TP73_uc021ofd.1_Silent_p.R201R|TP73_uc021ofe.1_Silent_p.R201R|TP73_uc021off.1_Silent_p.R201R|TP73_uc010nzj.2_Silent_p.R152R|TP73_uc021ofg.1_Silent_p.R152R|TP73_uc021ofh.1_Silent_p.R152R|TP73_uc021ofi.1_Silent_p.R152R|TP73_uc001akr.3_Silent_p.R152R|TP73_uc009vlk.2_Silent_p.R152R|TP73_uc001aks.3_Silent_p.R152R|TP73_uc010nzk.2_Silent_p.R130R	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	201	DNA-binding (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGCTCGGGAGGGACTTCAACG	0.662000														20			5		0	0	0.001168	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824557	96824557	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96824557C>T	uc001kkb.3	-	4	737	c.642_splice	c.e4+1	p.Q214_splice	CYP2C8_uc010qoa.2_Splice_Site_p.Q144_splice|CYP2C8_uc010qoc.2_Splice_Site_p.Q112_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.Q128_splice|CYP2C8_uc021pwl.1_Splice_Site_p.Q144_splice|CYP2C8_uc010qod.1_Splice_Site_p.Q128_splice	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	214					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTGGCCTTACCTGGATCCATG	0.328000														28			13		0	0	0.001368	0	0
EXOC1	55763	broad.mit.edu	37	4	56726626	56726626	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:56726626C>T	uc003hbe.1	+	2	332	c.174C>T	c.(172-174)tcC>tcT	p.S58S	EXOC1_uc003hbf.1_Silent_p.S58S|EXOC1_uc003hbg.1_Silent_p.S58S	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	58					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TCAAGAAATCCGATAAGGGAG	0.418000														26			28		0	0	0.001271	0	0
OR2G3	81469	broad.mit.edu	37	1	247768917	247768917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247768917G>A	uc010pyz.2	+	0	30	c.30G>A	c.(28-30)atG>atA	p.M10I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M10I(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)			GTTCCCTAATGGATTTCATCC	0.463000														55			29		0	0	0.001512	0	0
PCDH15	65217	broad.mit.edu	37	10	55582262	55582262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55582262G>A	uc010qhy.1	-	34	5640	c.5245C>T	c.(5245-5247)Cct>Tct	p.P1749S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1744S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1719S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1739S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1702S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1673S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1744S|PCDH15_uc010qia.1_Missense_Mutation_p.P1722S|PCDH15_uc001jju.1_Missense_Mutation_p.P1742S|PCDH15_uc010qib.1_Missense_Mutation_p.P1719S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1742	Poly-Pro.				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)				CAGGCAGAAGGAGAGATGTTT	0.458000										HNSCC(58;0.16)				9			7		0	0	0.001984	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975909	76975909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:76975909C>T	uc002snr.3	-	3	2100	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	LRRTM4_uc002snq.3_Missense_Mutation_p.G562D	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	562						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAGCTCCAGGCCGGGGCTTTC	0.597000														61			32		0	0	0.002836	0	0
OR5K2	402135	broad.mit.edu	37	3	98216596	98216596	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:98216596G>A	uc011bgx.2	+	0	72	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	24					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						CTGAGCTGAAGACTCTGCTGT	0.418000														56			42		0	0	0.003610	0	0
FAM5C	339479	broad.mit.edu	37	1	190067466	190067466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:190067466C>T	uc001gse.1	-	7	2215	c.1983G>A	c.(1981-1983)atG>atA	p.M661I	FAM5C_uc010pot.1_Missense_Mutation_p.M559I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	661						extracellular region		p.Y660Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TATTGATTTTCATATAGCCCA	0.453000														83			33		0	0	0.002445	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902777	30902777	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30902777G>A	uc009yjk.1	-	24	3565	c.3496C>T	c.(3496-3498)Cag>Tag	p.Q1166*	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Nonsense_Mutation_p.Q825*|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	68					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TCCCAGGACTGAATTGGCTCT	0.498000														30			25		0	0	0.004656	0	0
PIAS3	10401	broad.mit.edu	37	1	145584814	145584814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145584814C>T	uc001eoc.1	+	12	1689	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	PIAS3_uc001eod.1_Missense_Mutation_p.S202L	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	533					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATTTATTTTCATTTCTTCAG	0.438000														56			13		0	0	0.002450	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281586	145281587	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145281586_145281587GG>TT	uc001emn.4	+	3	886_887	c.516_517GG>TT	c.(514-519)cagggc>caTTgc	p.172_173QG>HC	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.172_173QG>HC|NOTCH2NL_uc001emo.2_Missense_Mutation_p.172_173QG>HC|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	172	EGF-like 5; calcium-binding (Potential).				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.G173V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGCCTTCAGGGCTTCACAGG	0.559000														891			22		0	0	0.004672	0	0
OVOL2	58495	broad.mit.edu	37	20	18005396	18005396	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:18005396G>C	uc002wqi.1	-	3	955	c.712C>G	c.(712-714)Ccg>Gcg	p.P238A		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	238					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GAGCTGCCCGGATGGGCACTG	0.577000														1			16		0	0	0.004007	0	0
PSKH2	85481	broad.mit.edu	37	8	87076613	87076613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:87076613G>A	uc011lfy.2	-	1	433	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	145	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CGATCAAAGAGCTCCCCTCCG	0.522000														49			17		0	0	0.004990	0	0
GPR68	8111	broad.mit.edu	37	14	91700725	91700725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91700725C>T	uc021ryk.1	-	0	670	c.670G>A	c.(670-672)Gac>Aac	p.D224N	GPR68_uc001xzg.3_Missense_Mutation_p.D224N|GPR68_uc001xzh.3_Missense_Mutation_p.D224N	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	224					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGATCTGGTCCTTGCGGCTC	0.677000														2			8		0	0	0.004482	0	0
CRH	1392	broad.mit.edu	37	8	67089270	67089271	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:67089270_67089271GG>AA	uc022avj.1	-	0	442_443	c.442_443CC>TT	c.(442-444)ccg>TTg	p.P148L	CRH_uc003xvy.2_Missense_Mutation_p.P148L	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	148					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TTCTCTCTCCGGTGCCTCCTGG	0.678000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			9		0	0	0.004672	0	0
CA8	767	broad.mit.edu	37	8	61178561	61178561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:61178561C>T	uc003xtz.1	-	2	588	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CA8_uc003xua.1_Missense_Mutation_p.E114K|CA8_uc003xub.3_Missense_Mutation_p.E114K	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	114					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.Y113Y(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AATCTCACTTCGTACAGTTCA	0.403000														24			20		0	0	0.001216	0	0
TMEM130	222865	broad.mit.edu	37	7	98457810	98457810	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:98457810G>A	uc003upo.3	-	2	732	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMEM130_uc011kiq.2_Silent_p.F162F|TMEM130_uc011kir.2_Silent_p.F181F|TMEM130_uc003upn.3_Silent_p.F79F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	181	PKD.					Golgi membrane|integral to membrane		p.F181F(2)		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)			ACCCGTCCCCGAAGTCCCAGC	0.582000														13			13		0	0	0.004007	0	0
PTGER4	5734	broad.mit.edu	37	5	40681542	40681542	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:40681542C>T	uc003jlz.3	+	1	1039	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	149					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.L149L(2)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCAACGTGCTCTTTTGCGCGC	0.602000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			37		0	0	0.004289	0	0
CD53	963	broad.mit.edu	37	1	111435132	111435132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:111435132G>A	uc001dzw.3	+	3	400	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CD53_uc001dzx.3_Missense_Mutation_p.E77K|CD53_uc010owa.2_Missense_Mutation_p.E77K	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	77					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CTCTATCAAGGAAAACAAGTG	0.517000														122			55		0	0	0.003610	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553706	45553706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45553706G>A	uc001cnd.2	-	1	1027	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	267							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCGGAGATAGGAAGACGCAAT	0.448000														65			48		0	0	0.003610	0	0
PDE1C	5137	broad.mit.edu	37	7	31855591	31855591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31855591G>A	uc003tcm.2	-	14	2221	c.1760C>T	c.(1759-1761)cCt>cTt	p.P587L	PDE1C_uc003tcn.1_Missense_Mutation_p.P587L|PDE1C_uc003tco.2_Missense_Mutation_p.P647L|PDE1C_uc003tcr.3_Missense_Mutation_p.P587L|PDE1C_uc003tcs.3_Missense_Mutation_p.P587L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	587					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)			TTTCCCACGAGGGTTGTCACT	0.473000														128			57		0	0	0.003610	0	0
CIB2	10518	broad.mit.edu	37	15	78416051	78416051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:78416051G>A	uc010ums.1	-	1	403	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	CIB2_uc002bdb.1_Missense_Mutation_p.L28F|CIB2_uc002bdc.1_Intron	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	28							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						ACTTACTTGAGGATGTCCTTC	0.577000														27			17		0	0	0.000958	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601385	46601385	+	Silent	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:46601385C>T	uc009zkj.1	-	6	1093	c.408G>A	c.(406-408)aaG>aaA	p.K136K	SLC38A1_uc001rpb.3_Silent_p.K136K|SLC38A1_uc001rpc.3_Silent_p.K136K|SLC38A1_uc001rpd.3_Silent_p.K136K|SLC38A1_uc001rpe.3_Silent_p.K136K|SLC38A1_uc010slh.2_Silent_p.K109K|SLC38A1_uc001rpa.3_Silent_p.K136K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	136					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)			GTTCCCCCAGCTTTTCATACA	0.378000														67			33		0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179514546	179514546	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179514546T>G	uc021vsy.1	-	164	32816	c.32591A>C	c.(32590-32592)aAa>aCa	p.K10864T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11791	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAGTACCTTTAGGAGGCGG	0.348000														70			45		0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78582525	78582525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:78582525G>A	uc001syp.3	+	32	6196	c.6023G>A	c.(6022-6024)gGa>gAa	p.G2008E	NAV3_uc001syo.3_Missense_Mutation_p.G1986E|NAV3_uc010sub.2_Missense_Mutation_p.G1465E|NAV3_uc009zsf.3_Missense_Mutation_p.G817E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2008						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						TACCTTGTTGGAGATAATAAC	0.408000										HNSCC(70;0.22)				48			42		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140362110	140362110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140362110C>T	uc003lii.3	+	2	3280	c.2675C>T	c.(2674-2676)cCt>cTt	p.P892L	PCDHAC2_uc003lha.2_Missense_Mutation_p.P571L|PCDHAC2_uc003lhb.2_Missense_Mutation_p.P835L|PCDHAC2_uc003lhd.2_Missense_Mutation_p.P833L|PCDHAC2_uc003lhf.2_Missense_Mutation_p.P835L|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P832L|PCDHAC2_uc003lhi.2_Missense_Mutation_p.P832L|PCDHAC2_uc003lhl.2_Missense_Mutation_p.P821L|PCDHAC2_uc003lhk.1_Missense_Mutation_p.P821L|PCDHAC2_uc003lho.2_Missense_Mutation_p.P835L|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P571L|PCDHAC2_uc003lhq.2_Missense_Mutation_p.P822L|PCDHAC2_uc003lhs.2_Missense_Mutation_p.P835L|PCDHAC2_uc003lhu.2_Missense_Mutation_p.P835L|PCDHAC2_uc003lhw.2_Missense_Mutation_p.P570L|PCDHAC2_uc003lhx.2_Missense_Mutation_p.P833L|PCDHAC2_uc003lia.2_Missense_Mutation_p.P834L|PCDHAC2_uc003lic.2_Missense_Mutation_p.P826L|PCDHAC2_uc003lif.2_Missense_Mutation_p.P835L|PCDHAC2_uc003lie.1_Missense_Mutation_p.P835L|PCDHAC2_uc003lih.2_Missense_Mutation_p.P848L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	892	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)			CCAGGAGGGCCTGATCAGCAG	0.493000														10			20		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179664562C>T	uc021vsy.1	-	4	884	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_uc021vsz.1_Missense_Mutation_p.R220Q|TTN_uc021vta.1_Missense_Mutation_p.R220Q|TTN_uc021vtb.1_Missense_Mutation_p.R220Q|TTN_uc002unb.2_Missense_Mutation_p.R220Q|TTN_uc002und.3_Missense_Mutation_p.R220Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220P(7)|p.R220R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCAATTCGGGTTTGTCT	0.403000														30			23		0	0	0.005443	0	0
NRXN1	9378	broad.mit.edu	37	2	50724718	50724719	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:50724718_50724719CC>TT	uc021vhh.1	-	12	3552_3553	c.2631_2632GG>AA	c.(2629-2634)atggca>atAAca	p.877_878MA>IT	NRXN1_uc002rxb.4_Missense_Mutation_p.549_550MA>IT|NRXN1_uc021vhg.1_Missense_Mutation_p.917_918MA>IT|NRXN1_uc021vhi.1_Missense_Mutation_p.913_914MA>IT|NRXN1_uc021vhj.1_Missense_Mutation_p.873_874MA>IT|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	877	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCAATGTATGCCATTCCATTAA	0.436000														36			14		0	0	0.004672	0	0
FTMT	94033	broad.mit.edu	37	5	121188116	121188116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:121188116G>A	uc003kss.3	+	0	467	c.458G>A	c.(457-459)tGg>tAg	p.W153*		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	153	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CAGGACGACTGGGAAAGCGGG	0.582000														8			20		0	0	0.001523	0	0
CSN2	1447	broad.mit.edu	37	4	70823160	70823160	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70823160C>T	uc003hes.4	-	4	520	c.507G>A	c.(505-507)tgG>tgA	p.W169*	CSN2_uc003het.4_Nonsense_Mutation_p.W168*	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	169					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GAGGAACAGACCACAGGGGCT	0.562000														19			13		0	0	0.001368	0	0
MMP26	56547	broad.mit.edu	37	11	5011062	5011062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5011062G>A	uc001lzv.3	+	1	302	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	95					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCTCGCCAGGAAGATGCAAG	0.522000														17			11		0	0	0.002450	0	0
OR6F1	343169	broad.mit.edu	37	1	247875599	247875599	+	Silent	SNP	G	A	A	rs144440883	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247875599G>A	uc001idj.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153L(2)|p.F153F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAATGGCCACGAAACCACACA	0.587000														25			37		0	0	0.005524	0	0
EGFR	1956	broad.mit.edu	37	7	55259465	55259465	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:55259465G>A	uc003tqk.3	+	20	2769	c.2523G>A	c.(2521-2523)agG>agA	p.R841R	EGFR_uc022adm.1_Silent_p.R841R|EGFR_uc010kzg.2_Silent_p.R796R|EGFR_uc022adn.1_Silent_p.R796R|EGFR_uc011kco.2_Silent_p.R788R|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Silent_p.R76R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	841	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R841K(2)|p.A840A(1)|p.A840T(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGCAGCCAGGAACGTACTGG	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				54			16		0	0	0.000743	0	0
RPRD2	23248	broad.mit.edu	37	1	150445749	150445749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150445749C>T	uc009wlr.3	+	10	4526	c.4325C>T	c.(4324-4326)cCt>cTt	p.P1442L	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1416L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1442	Pro-rich.						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						CCCAGGCCACCTTTTGCTAGG	0.512000														64			30		0	0	0.002096	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411144	32411144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32411144C>T	uc003obh.3	+	2	620	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	HLA-DRA_uc003obi.3_Missense_Mutation_p.R146C	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	171	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCACCTTTTCCGCAAGTTCCA	0.562000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					35			18		0	0	0.001523	0	0
NRCAM	4897	broad.mit.edu	37	7	107807368	107807368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107807368G>A	uc022aka.1	-	26	3570	c.3464C>T	c.(3463-3465)cCa>cTa	p.P1155L	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1155					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCTCACCTGGGCCTGTCTC	0.572000														10			13		0	0	0.003163	0	0
FAT4	79633	broad.mit.edu	37	4	126401004	126401004	+	Silent	SNP	G	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126401004G>A	uc003ifj.4	+	13	12582	c.12582G>A	c.(12580-12582)ggG>ggA	p.G4194G	FAT4_uc011cgp.2_Intron|FAT4_uc003ifi.1_Silent_p.G1672G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4194	EGF-like 5.				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						GACTCACTGGGAAATACTGTG	0.423000														25			11		0	0	0.000978	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369087	86369087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:86369087C>T	uc001vll.1	-	1	2016	c.1557G>A	c.(1555-1557)tgG>tgA	p.W519*	SLITRK6_uc021rla.1_Nonsense_Mutation_p.W519*	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	519	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGGAGCAGTCCCAGGGGTTAT	0.448000														8			27		0	0	0.001786	0	0
UTP20	27340	broad.mit.edu	37	12	101711290	101711290	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101711290C>A	uc001tia.1	+	21	2743	c.2587C>A	c.(2587-2589)Cca>Aca	p.P863T		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	863					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAAGTTGCTCCAACCCAGGA	0.493000														29			22		5.35356e-11	1.12341e-10	0.002780	1	0
OR2M3	127062	broad.mit.edu	37	1	248366915	248366916	+	Frame_Shift_Ins	INS	-	T	T	rs141760284	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248366915_248366916insT	uc010pzg.2	+	0	546_547	c.546_547insT	c.(544-549)ccctccfs	p.P182fs		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGACTTCCCCTCCCTACTAAT	0.421													---	150	---	---	70	---					
RASA2	5922	broad.mit.edu	37	3	141277785	141277785	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141277785delA	uc010huq.1	+	7	742	c.742delA	c.(742-744)attfs	p.I248fs	RASA2_uc003etz.1_Frame_Shift_Del_p.I248fs|RASA2_uc003eua.1_Frame_Shift_Del_p.I248fs|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	248	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAGGAGGACATTGAAAAGCT	0.318													---	31	---	---	49	---					
GYPA	2993	broad.mit.edu	37	4	144940417	144940417	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:144940417delT	uc003ijm.1	-	0	80	c.24delA	c.(22-24)gtafs	p.V8fs	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Non-coding_Transcript|GYPA_uc011chx.1_Non-coding_Transcript|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	8					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ACAATAGTAATACAAAGATTA	0.343													---	19	---	---	8	---					
TAS2R1	50834	broad.mit.edu	37	5	9629698	9629698	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:9629698delC	uc003jem.1	-	0	766	c.447delG	c.(445-447)gggfs	p.G149fs		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	149					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGACCATAAACCCTGCATATT	0.393													---	43	---	---	24	---					
DYNC2H1	79659	broad.mit.edu	37	11	103033810	103033832	+	Frame_Shift_Del	DEL	GAAGGAATGTGTTACTACTGGGC	-	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:103033810_103033832delGAAGGAATGTGTTACTACTGGGC	uc001phn.1	+	29	4689_4711	c.4545_4567delGAAGGAATGTGTTACTACTGGGC	c.(4543-4569)ttgaaggaatgtgttactactgggcgafs	p.L1515fs	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.L1515fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1515	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACAGTTGTTGAAGGAATGTGTTACTACTGGGCGAAGTTCTCA	0.395													---	238	---	---	9	---					
CCDC15	80071	broad.mit.edu	37	11	124856681	124856681	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124856681delT	uc001qbm.4	+	6	1056	c.797delT	c.(796-798)cttfs	p.L266fs		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	266						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TCTTCATCTCTTGTAACTGAT	0.453													---	4	---	---	2	---					
HCFC2	29915	broad.mit.edu	37	12	104496938	104496942	+	Frame_Shift_Del	DEL	ACATC	-	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104496938_104496942delACATC	uc001tkj.4	+	14	2369_2373	c.2266_2270delACATC	c.(2266-2271)acatccfs	p.T756fs	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	756	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TATTGATTATACATCCAGGCCTGCC	0.400													---	69	---	---	27	---					
ZNF831	128611	broad.mit.edu	37	20	57829676	57829677	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:57829676_57829677insT	uc002yan.3	+	4	4912_4913	c.4912_4913insT	c.(4912-4914)attfs	p.I1638fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1638						intracellular	nucleic acid binding|zinc ion binding	p.E1637*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCATAGAAATTCCTGAAGCC	0.480													---	77	---	---	21	---